Providing information for patients and professionals on research and clinical care in genetic types of diabetes.

Publications

Departmental Publications from 1995 to date
Taken from PubMed

 543.

High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes.

McDonald TJ, Shields BM, Lawry J, Owen KR, Gloyn AL, Ellard S, Hattersley AT.Diabetes Care. 2011 Jun 23. [Epub ahead of print]PMID: 21700917 [PubMed - as supplied by publisher]

542.

Messenger RNA processing and its role in diabetes.

Harries LW.

Diabet Med. 2011 Jun 23. doi: 10.1111/j.1464-5491.2011.03373.x. [Epub ahead of print]

PMID: 21699562 [PubMed - as supplied by publisher]

541.

Identification of HNF1A-MODY and HNF4A-MODY in Irish families: Phenotypic characteristics and therapeutic implications.

Kyithar MP, Bacon S, Pannu KK, Rizvi SR, Colclough K, Ellard S, Byrne MM.

Diabetes Metab. 2011 Jun 15. [Epub ahead of print] PMID: 21683639 [PubMed - as supplied by publisher]

  

540.

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.

Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, Harmer SC, Shield JP, Tinker A, Ellard S, Hussain K.

Diabetologia. 2011 Jun 15. [Epub ahead of print]

PMID: 21674179 [PubMed - as supplied by publisher]

539.

Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing.

Harries LW, Hernandez D, Henley W, Wood A, Holly AC, Bradley-Smith RM, Yaghootkar H, Dutta A, Murray A, Frayling TM, Guralnik JM, Bandinelli S, Singleton A, Ferrucci L, Melzer D.

Aging Cell. 2011 Jun 13. doi: 10.1111/j.1474-9726.2011.00726.x. [Epub ahead of print]

PMID: 21668623 [PubMed - as supplied by publisher]

538.

Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.

Männikkö R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM.

Diabetes. 2011 Jun;60(6):1813-22.

PMID: 21617188 [PubMed - in process]

537.

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

Steele AM, Tribble ND, Caswell R, Wensley KJ, Hattersley AT, Gloyn AL, Ellard S.

Diabetologia. 2011 May 21. [Epub ahead of print] No abstract available.

PMID: 21604084 [PubMed - as supplied by publisher]

536.

Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index.

Freathy RM, Kazeem GR, Morris RW, Johnson PC, Paternoster L, Ebrahim S, Hattersley AT, Hill A, Hingorani AD, Holst C, Jefferis BJ, Kring SI, Mooser V, Padmanabhan S, Preisig M, Ring SM, Sattar N, Upton MN, Vollenweider P, Waeber G, Sørensen TI, Frayling TM, Watt G, Lawlor DA, Whincup PH, Tozzi F, Davey Smith G, Munafò M.

Int J Epidemiol. 2011 May 18. [Epub ahead of print]

PMID: 21593077 [PubMed - as supplied by publisher]

535.

Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes.

Edghill EL, Khamis A, Weedon MN, Walker M, Hitman GA, McCarthy MI, Owen KR, Ellard S, T Hattersley A, Frayling TM.

Diabet Med. 2011 Jun;28(6):681-4. doi: 10.1111/j.1464-5491.2011.03269.x.

PMID: 21569088 [PubMed - in process]

534.

A Conserved Tryptophan at the Membrane-Water Interface Acts as a Gatekeeper for Kir6.2/SUR1 Channels and Causes Neonatal Diabetes when Mutated.

Männikkö R, Stansfeld P, Ashcroft AS, Hattersley AT, Sansom M, Ellard S, Ashcroft FM.

J Physiol. 2011 May 3. [Epub ahead of print]

PMID: 21540348 [PubMed - as supplied by publisher]

533.

Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.

Zhai G, Teumer A, Stolk L, Perry JR, Vandenput L, Coviello AD, Koster A, Bell JT, Bhasin S, Eriksson J, Eriksson A, Ernst F, Ferrucci L, Frayling TM, Glass D, Grundberg E, Haring R, Hedman AK, Hofman A, Kiel DP, Kroemer HK, Liu Y, Lunetta KL, Maggio M, Lorentzon M, Mangino M, Melzer D, Miljkovic I; MuTHER Consortium, Nica A, Penninx BW, Vasan RS, Rivadeneira F, Small KS, Soranzo N, Uitterlinden AG, Völzke H, Wilson SG, Xi L, Zhuang WV, Harris TB, Murabito JM, Ohlsson C, Murray A, de Jong FH, Spector TD, Wallaschofski H.

PLoS Genet. 2011 Apr;7(4):e1002025. Epub 2011 Apr 14.

PMID: 21533175 [PubMed - in process]

532.

Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children.

Hameed S, Ellard S, Woodhead HJ, Neville KA, Walker JL, Craig ME, Armstrong T, Yu L, Eisenbarth GS, Hattersley AT, Verge CF.

Pediatr Diabetes. 2011 May;12(3 Pt 1):142-9. doi: 10.1111/j.1399-5448.2010.00681.x. Epub 2010 Sep 6.

PMID: 21518407 [PubMed - in process]

531.

Discovery of a Novel Site Regulating Glucokinase Activity following Characterization of a New Mutation Causing Hyperinsulinemic Hypoglycemia in Humans.

Beer NL, van de Bunt M, Colclough K, Lukacs C, Arundel P, Chik CL, Grimsby J, Ellard S, Gloyn AL.

J Biol Chem. 2011 May 27;286(21):19118-26. Epub 2011 Mar 29.

PMID: 21454522 [PubMed - in process]

530.

Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.

Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW.

Eur J Endocrinol. 2011 Jun;164(6):919-926. Epub 2011 Mar 21.

PMID: 21422196 PubMed - as supplied by publisher]

529.

Fetal thyroid hormone level at birth is associated with fetal growth.

Shields BM, Knight BA, Hill A, Hattersley AT, Vaidya B.

J Clin Endocrinol Metab. 2011 Jun;96(6):E934-8. Epub 2011 Mar 16.

PMID: 21411545 [PubMed - in process]

528.

In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy.

Powell PD, Bellanné-Chantelot C, Flanagan SE, Ellard S, Rooman R, Hussain K, Skae M, Clayton P, de Lonlay P, Dunne MJ, Cosgrove KE.

Diabetes. 2011 Apr;60(4):1223-8. Epub 2011 Mar 16.

PMID: 21411514 [PubMed - indexed for MEDLINE]

527.

Genomic inflation factors under polygenic inheritance.

Yang J, Weedon MN, Purcell S, Lettre G, Estrada K, Willer CJ, Smith AV, Ingelsson E, O'Connell JR, Mangino M, Mägi R, Madden PA, Heath AC, Nyholt DR, Martin NG, Montgomery GW, Frayling TM, Hirschhorn JN, McCarthy MI, Goddard ME, Visscher PM.

Eur J Hum Genet. 2011 Jul;19(7):807-12. doi: 10.1038/ejhg.2011.39. Epub 2011 Mar 16.

PMID: 21407268 [PubMed - in process]

526.

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from 1 diabetes.Type

McDonald TJ, Colclough K, Brown R, Shields B, Shepherd M, Bingley P, Williams A, Hattersley AT, Ellard S.

Diabet Med. 2011 Mar 12. doi: 10.1111/j.1464-5491.2011.03287.x. [Epub ahead of print]

PMID: 21395678 [PubMed - as supplied by publisher]

525.

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.

Rubio-Cabezas O, Jensen JN, Hodgson MI, Codner E, Ellard S, Serup P, Hattersley AT.

Diabetes. 2011 Apr;60(4):1349-53. Epub 2011 Mar 4.

PMID: 21378176 [PubMed - indexed for MEDLINE]

524.

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.

Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE, Dunne MJ, Clayton PE.

Eur J Endocrinol. 2011 May;164(5):733-40. Epub 2011 Mar 4.

PMID: 21378087 [PubMed - indexed for MEDLINE]

 

523.

KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.

Ioannou YS, Ellard S, Hattersley A, Skordis N.

Pediatr Diabetes. 2011 Mar;12(2):133-7. doi: 10.1111/j.1399-5448.2010.00743.x.

PMID: 21352428 [PubMed - indexed for MEDLINE]

522.

Piecing together the FTO jigsaw.

Frayling TM, Ong K.

Genome Biol. 2011 Feb 24;12(2):104. [Epub ahead of print]

PMID: 21349207 [PubMed - as supplied by publisher]

521.

A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement.

Taylor PN, Panicker V, Sayers A, Shields B, Iqbal A, Bremner AP, Beilby JP, Leedman PJ, Hattersley AT, Vaidya B, Frayling T, Evans J, Tobias JH, Timpson NJ, Walsh JP, Dayan CM.

Eur J Endocrinol. 2011 May;164(5):773-80. Epub 2011 Feb 11.

PMID:21317282[PubMed - indexed for MEDLINE]

520.

An FTO variant is associated with Type 2 diabetes in South Asian populations after accounting for body mass index and waist circumference.

Rees SD, Islam M, Hydrie MZ, Chaudhary B, Bellary S, Hashmi S, O'Hare JP, Kumar S, Sanghera DK, Chaturvedi N, Barnett AH, Shera AS, Weedon MN, Basit A, Frayling TM, Kelly MA, Jafar TH.

Diabet Med. 2011 Jun;28(6):673-80. doi: 10.1111/j.1464-5491.2011.03257.x.

PMID: 21294771 [PubMed - in process]

519.

Urine C-peptide creatinine ratio is a noninvasive alternative to the mixed-meal tolerance test in children and adults with type 1 diabetes.

Besser RE, Ludvigsson J, Jones AG, McDonald TJ, Shields BM, Knight BA, Hattersley AT.

Diabetes Care. 2011 Mar;34(3):607-9. Epub 2011 Feb 1.

PMID: 21285386 [PubMed - indexed for MEDLINE]

518.

Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance.

De Silva NM, Freathy RM, Palmer TM, Donnelly LA, Luan J, Gaunt T, Langenberg C, Weedon MN, Shields B, Knight BA, Ward KJ, Sandhu MS, Harbord RM, McCarthy MI, Smith GD, Ebrahim S, Hattersley AT, Wareham N, Lawlor DA, Morris AD, Palmer CN, Frayling TM.

Diabetes. 2011 Mar;60(3):1008-18. Epub 2011 Jan 31.

PMID: 21282362 [PubMed - indexed for MEDLINE]

517.

Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes.

Besser RE, Shepherd MH, McDonald TJ, Shields BM, Knight BA, Ellard S, Hattersley AT.

Diabetes Care. 2011 Feb;34(2):286-91.

PMID: 21270186 [PubMed - indexed for MEDLINE]

516.

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.

Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, Ellard S.

J Clin Endocrinol Metab. 2011 Mar;96(3):E498-502. Epub 2011 Jan 20.

PMID: 21252247 [PubMed - indexed for MEDLINE]

515.

Dysregulation of Hnf1b gene expression in cultured beta-cells in response to cytotoxic fatty acid.

Johnstone KA, Diakogiannaki E, Dhayal S, Morgan NG, Harries LW.

JOP. 2011 Jan 5;12(1):6-10.

PMID: 21206094 [PubMed - indexed for MEDLINE]

514.

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.

GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group; Wellcome Trust Case Control Consortium 2, Zhou K, Bellenguez C, Spencer CC, Bennett AJ, Coleman RL, Tavendale R, Hawley SA, Donnelly LA, Schofield C, Groves CJ, Burch L, Carr F, Strange A, Freeman C, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Craddock N, Deloukas P, Dronov S, Duncanson A, Edkins S, Gray E, Hunt S, Jankowski J, Langford C, Markus HS, Mathew CG, Plomin R, Rautanen A, Sawcer SJ, Samani NJ, Trembath R, Viswanathan AC, Wood NW; MAGIC investigators, Harries LW, Hattersley AT, Doney AS, Colhoun H, Morris AD, Sutherland C, Hardie DG, Peltonen L, McCarthy MI, Holman RR, Palmer CN, Donnelly P, Pearson ER.

Nat Genet. 2011 Feb;43(2):117-20. Epub 2010 Dec 26.

PMID: 21186350 [PubMed - indexed for MEDLINE]

513.

Common nonsynonymous substitutions in SLCO1B1 predispose to statin intolerance in routinely treated individuals with type 2 diabetes: a go-DARTS study.

Donnelly LA, Doney AS, Tavendale R, Lang CC, Pearson ER, Colhoun HM, McCarthy MI, Hattersley AT, Morris AD, Palmer CN.

Clin Pharmacol Ther. 2011 Feb;89(2):210-6. Epub 2010 Dec 22.

PMID: 21178985 [PubMed - indexed for MEDLINE]

512.

Novel GLIS3 mutations demonstrate an extended multisystem phenotype.

Dimitri P, Warner JT, Minton JA, Patch AM, Ellard S, Hattersley AT, Barr S, Hawkes D, Wales JK, Gregory JW.

Eur J Endocrinol. 2011 Mar;164(3):437-43. Epub 2010 Dec 7.

PMID: 21139041 [PubMed - indexed for MEDLINE]

511.

Genome-wide association scan allowing for epistasis in type 2 diabetes.

Bell JT, Timpson NJ, Rayner NW, Zeggini E, Frayling TM, Hattersley AT, Morris AP, McCarthy MI.

Ann Hum Genet. 2011 Jan;75(1):10-9. doi: 10.1111/j.1469-1809.2010.00629.x. Epub 2010 Dec 6.

PMID: 21133856 [PubMed - indexed for MEDLINE]

510.

Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus.

Bell CG, Finer S, Lindgren CM, Wilson GA, Rakyan VK, Teschendorff AE, Akan P, Stupka E, Down TA, Prokopenko I, Morison IM, Mill J, Pidsley R; International Type 2 Diabetes 1q Consortium, Deloukas P, Frayling TM, Hattersley AT, McCarthy MI, Beck S, Hitman GA.

PLoS One. 2010 Nov 18;5(11):e14040.

PMID: 21124985 [PubMed - indexed for MEDLINE]

509.

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.

Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, Visser JA, Byrne EM, Cousminer DL, Gudbjartsson DF, Esko T, Feenstra B, Hottenga JJ, Koller DL, Kutalik Z, Lin P, Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden SH, Zhao JH, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson PK, Smith EN, Ulivi S, Warrington NM, Zgaga L, Alavere H, Amin N, Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S, Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H, Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, d'Adamo P, de Faire U, de Geus EJ, Deloukas P, Döring A, Smith GD, Easton DF, Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR, Foroud T, Garcia M, Gasparini P, Geller F, Gieger C; GIANT Consortium, Gudnason V, Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A, Hu FB, Illig T, Järvelin MR, Johnson AD, Karasik D, Khaw KT, Kiel DP, Kilpeläinen TO, Kolcic I, Kraft P, Launer LJ, Laven JS, Li S, Liu J, Levy D, Martin NG, McArdle WL, Melbye M, Mooser V, Murray JC, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K, Oostra BA, Peacock M, Palmer LJ, Palotie A, Paré G, Parker AN, Pedersen NL, Peltonen L, Pennell CE, Pharoah P, Polasek O, Plump AS, Pouta A, Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F, Rudan I, Sala C, Salomaa V, Sanna S, Schlessinger D, Schork NJ, Scuteri A, Segrè AV, Shuldiner AR, Soranzo N, Sovio U, Srinivasan SR, Strachan DP, Tammesoo ML, Tikkanen E, Toniolo D, Tsui K, Tryggvadottir L, Tyrer J, Uda M, van Dam RM, van Meurs JB, Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Weedon MN, Wichmann HE, Willemsen G, Wilson JF, Wright AF, Young L, Zhai G, Zhuang WV, Bierut LJ, Boomsma DI, Boyd HA, Crisponi L, Demerath EW, van Duijn CM, Econs MJ, Harris TB, Hunter DJ, Loos RJ, Metspalu A, Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K, Thorsteinsdottir U, Uitterlinden AG, Widen E, Murabito JM, Ong KK, Murray A.

Nat Genet. 2010 Dec;42(12):1077-85.

PMID: 21102462 [PubMed - indexed for MEDLINE]

508.

Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation.

Simms RJ, Sayer JA, Quinton R, Walker M, Ellard S, Goodship TH.

QJM. 2010 Nov 4. [Epub ahead of print] No abstract available.

PMID: 21051477 [PubMed - as supplied by publisher]

507.

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

Carr IM, Camm N, Taylor GR, Charlton R, Ellard S, Sheridan EG, Markham AF, Bonthron DT.

J Med Genet. 2011 Feb;48(2):123-30. Epub 2010 Oct 30.

PMID: 21037276 [PubMed - indexed for MEDLINE]

506.

Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study.

Murray A, Bennett CE, Perry JR, Weedon MN, Jacobs PA, Morris DH, Orr N, Schoemaker MJ, Jones M, Ashworth A, Swerdlow AJ; ReproGen Consortium.

Hum Mol Genet. 2011 Jan 1;20(1):186-92. Epub 2010 Oct 17.

PMID: 20952801 [PubMed - indexed for MEDLINE]

505.

Familial focal congenital hyperinsulinism.

Ismail D, Smith VV, de Lonlay P, Ribeiro MJ, Rahier J, Blankenstein O, Flanagan SE, Bellanné-Chantelot C, Verkarre V, Aigrain Y, Pierro A, Ellard S, Hussain K.

J Clin Endocrinol Metab. 2011 Jan;96(1):24-8. Epub 2010 Oct 13.

PMID: 20943779 [PubMed - indexed for MEDLINE]

504.

Mutation surveyor: software for DNA sequence analysis.

Minton JA, Flanagan SE, Ellard S.

Methods Mol Biol. 2011;688:143-53.

PMID: 20938837 [PubMed - indexed for MEDLINE]

503.

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Allen HL, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, Heid IM, Steinthorsdottir V, Stringham HM, Weedon MN, Wheeler E, Wood AR, Ferreira T, Weyant RJ, Segrè AV, Estrada K, Liang L, Nemesh J, Park JH, Gustafsson S, Kilpeläinen TO, Yang J, Bouatia-Naji N, Esko T, Feitosa MF, Kutalik Z, Mangino M, Raychaudhuri S, Scherag A, Smith AV, Welch R, Zhao JH, Aben KK, Absher DM, Amin N, Dixon AL, Fisher E, Glazer NL, Goddard ME, Heard-Costa NL, Hoesel V, Hottenga JJ, Johansson A, Johnson T, Ketkar S, Lamina C, Li S, Moffatt MF, Myers RH, Narisu N, Perry JR, Peters MJ, Preuss M, Ripatti S, Rivadeneira F, Sandholt C, Scott LJ, Timpson NJ, Tyrer JP, van Wingerden S, Watanabe RM, White CC, Wiklund F, Barlassina C, Chasman DI, Cooper MN, Jansson JO, Lawrence RW, Pellikka N, Prokopenko I, Shi J, Thiering E, Alavere H, Alibrandi MT, Almgren P, Arnold AM, Aspelund T, Atwood LD, Balkau B, Balmforth AJ, Bennett AJ, Ben-Shlomo Y, Bergman RN, Bergmann S, Biebermann H, Blakemore AI, Boes T, Bonnycastle LL, Bornstein SR, Brown MJ, Buchanan TA, Busonero F, Campbell H, Cappuccio FP, Cavalcanti-Proença C, Chen YD, Chen CM, Chines PS, Clarke R, Coin L, Connell J, Day IN, Heijer M, Duan J, Ebrahim S, Elliott P, Elosua R, Eiriksdottir G, Erdos MR, Eriksson JG, Facheris MF, Felix SB, Fischer-Posovszky P, Folsom AR, Friedrich N, Freimer NB, Fu M, Gaget S, Gejman PV, Geus EJ, Gieger C, Gjesing AP, Goel A, Goyette P, Grallert H, Grässler J, Greenawalt DM, Groves CJ, Gudnason V, Guiducci C, Hartikainen AL, Hassanali N, Hall AS, Havulinna AS, Hayward C, Heath AC, Hengstenberg C, Hicks AA, Hinney A, Hofman A, Homuth G, Hui J, Igl W, Iribarren C, Isomaa B, Jacobs KB, Jarick I, Jewell E, John U, Jørgensen T, Jousilahti P, Jula A, Kaakinen M, Kajantie E, Kaplan LM, Kathiresan S, Kettunen J, Kinnunen L, Knowles JW, Kolcic I, König IR, Koskinen S, Kovacs P, Kuusisto J, Kraft P, Kvaløy K, Laitinen J, Lantieri O, Lanzani C, Launer LJ, Lecoeur C, Lehtimäki T, Lettre G, Liu J, Lokki ML, Lorentzon M, Luben RN, Ludwig B; MAGIC, Manunta P, Marek D, Marre M, Martin NG, McArdle WL, McCarthy A, McKnight B, Meitinger T, Melander O, Meyre D, Midthjell K, Montgomery GW, Morken MA, Morris AP, Mulic R, Ngwa JS, Nelis M, Neville MJ, Nyholt DR, O'Donnell CJ, O'Rahilly S, Ong KK, Oostra B, Paré G, Parker AN, Perola M, Pichler I, Pietiläinen KH, Platou CG, Polasek O, Pouta A, Rafelt S, Raitakari O, Rayner NW, Ridderstråle M, Rief W, Ruokonen A, Robertson NR, Rzehak P, Salomaa V, Sanders AR, Sandhu MS, Sanna S, Saramies J, Savolainen MJ, Scherag S, Schipf S, Schreiber S, Schunkert H, Silander K, Sinisalo J, Siscovick DS, Smit JH, Soranzo N, Sovio U, Stephens J, Surakka I, Swift AJ, Tammesoo ML, Tardif JC, Teder-Laving M, Teslovich TM, Thompson JR, Thomson B, Tönjes A, Tuomi T, van Meurs JB, van Ommen GJ, Vatin V, Viikari J, Visvikis-Siest S, Vitart V, Vogel CI, Voight BF, Waite LL, Wallaschofski H, Walters GB, Widen E, Wiegand S, Wild SH, Willemsen G, Witte DR, Witteman JC, Xu J, Zhang Q, Zgaga L, Ziegler A, Zitting P, Beilby JP, Farooqi IS, Hebebrand J, Huikuri HV, James AL, Kähönen M, Levinson DF, Macciardi F, Nieminen MS, Ohlsson C, Palmer LJ, Ridker PM, Stumvoll M, Beckmann JS, Boeing H, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ, Collins FS, Cupples LA, Smith GD, Erdmann J, Froguel P, Grönberg H, Gyllensten U, Hall P, Hansen T, Harris TB, Hattersley AT, Hayes RB, Heinrich J, Hu FB, Hveem K, Illig T, Jarvelin MR, Kaprio J, Karpe F, Khaw KT, Kiemeney LA, Krude H, Laakso M, Lawlor DA, Metspalu A, Munroe PB, Ouwehand WH, Pedersen O, Penninx BW, Peters A, Pramstaller PP, Quertermous T, Reinehr T, Rissanen A, Rudan I, Samani NJ, Schwarz PE, Shuldiner AR, Spector TD, Tuomilehto J, Uda M, Uitterlinden A, Valle TT, Wabitsch M, Waeber G, Wareham NJ, Watkins H; Procardis Consortium, Wilson JF, Wright AF, Zillikens MC, Chatterjee N, McCarroll SA, Purcell S, Schadt EE, Visscher PM, Assimes TL, Borecki IB, Deloukas P, Fox CS, Groop LC, Haritunians T, Hunter DJ, Kaplan RC, Mohlke KL, O'Connell JR, Peltonen L, Schlessinger D, Strachan DP, van Duijn CM, Wichmann HE, Frayling TM, Thorsteinsdottir U, Abecasis GR, Barroso I, Boehnke M, Stefansson K, North KE, McCarthy MI, Hirschhorn JN, Ingelsson E, Loos RJ.

Nat Genet. 2010 Nov;42(11):937-48. Epub 2010 Oct 10.

PMID: 20935630 [PubMed - indexed for MEDLINE]

502.

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.

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Nat Genet. 2010 Nov;42(11):949-60. Epub 2010 Oct 10.

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501.

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Webster RJ, Warrington NM, Beilby JP, Frayling TM, Palmer LJ.

BMC Med Genet. 2010 Oct 8;11:140.

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500.

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Edghill EL, Flanagan SE, Ellard S.

Rev Endocr Metab Disord. 2010 Sep;11(3):193-8. Review.

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500.

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Indian J Pediatr. 2010 Dec;77(12):1429-31. Epub 2010 Oct 2.

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499.

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Nature. 2010 Oct 14;467(7317):832-8. Epub 2010 Sep 29.

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498.

A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.

Jafar-Mohammadi B, Groves CJ, Gjesing AP, Herrera BM, Winckler W, Stringham HM, Morris AP, Lauritzen T, Doney AS, Morris AD, Weedon MN, Swift AJ, Kuusisto J, Laakso M, Altshuler D, Hattersley AT, Collins FS, Boehnke M, Hansen T, Pedersen O, Palmer CN, Frayling TM; DIAGRAM Consortium, Gloyn AL, McCarthy MI.

Diabetologia. 2011 Jan;54(1):111-9. Epub 2010 Sep 29.

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497.

Focal congenital hyperinsulinism in a patient with septo-optic dysplasia.

Padidela R, Kapoor RR, Moyo Y, Gilbert C, Flanagan SE, Ellard S, Hussain K.

Nat Rev Endocrinol. 2010 Nov;6(11):646-50. Epub 2010 Sep 14.

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496.

In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets.

Piper Hanley K, Hearn T, Berry A, Carvell MJ, Patch AM, Williams LJ, Sugden SA, Wilson DI, Ellard S, Hanley NA.

J Endocrinol. 2010 Nov;207(2):151-61. Epub 2010 Aug 31.

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495.

C-reactive protein levels and body mass index: elucidating direction of causation through reciprocal Mendelian randomization.

Timpson NJ, Nordestgaard BG, Harbord RM, Zacho J, Frayling TM, Tybjærg-Hansen A, Smith GD.

Int J Obes (Lond). 2011 Feb;35(2):300-8. Epub 2010 Aug 17.

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494.

Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies.

Nettleton JA, McKeown NM, Kanoni S, Lemaitre RN, Hivert MF, Ngwa J, van Rooij FJ, Sonestedt E, Wojczynski MK, Ye Z, Tanaka T, Garcia M, Anderson JS, Follis JL, Djousse L, Mukamal K, Papoutsakis C, Mozaffarian D, Zillikens MC, Bandinelli S, Bennett AJ, Borecki IB, Feitosa MF, Ferrucci L, Forouhi NG, Groves CJ, Hallmans G, Harris T, Hofman A, Houston DK, Hu FB, Johansson I, Kritchevsky SB, Langenberg C, Launer L, Liu Y, Loos RJ, Nalls M, Orho-Melander M, Renstrom F, Rice K, Riserus U, Rolandsson O, Rotter JI, Saylor G, Sijbrands EJ, Sjogren P, Smith A, Steingrímsdóttir L, Uitterlinden AG, Wareham NJ, Prokopenko I, Pankow JS, van Duijn CM, Florez JC, Witteman JC; MAGIC Investigators, Dupuis J, Dedoussis GV, Ordovas JM, Ingelsson E, Cupples LA, Siscovick DS, Franks PW, Meigs JB.

Diabetes Care. 2010 Dec;33(12):2684-91. Epub 2010 Aug 6. Erratum in: Diabetes Care. 2011 Mar;34(3):785-6. multiple author names added; multiple investigator names added.

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493.

Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the International Association of Diabetes and Pregnancy Study Groups.

Freathy RM, Hayes MG, Urbanek M, Lowe LP, Lee H, Ackerman C, Frayling TM, Cox NJ, Dunger DB, Dyer AR, Hattersley AT, Metzger BE, Lowe WL Jr; HAPO Study Cooperative Research Group.

Diabetes. 2010 Oct;59(10):2682-9. Epub 2010 Aug 3.

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492.

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.

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Genet Test Mol Biomarkers. 2010 Aug;14(4):533-7. Erratum in: Genet Test Mol Biomarkers. 2010 Oct;14(5):730.

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491.

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.

Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C.

Am J Obstet Gynecol. 2010 Oct;203(4):364.e1-5. Epub 2010 Jul 15.

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490.

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.

Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Langenberg C, Hofmann OM, Dupuis J, Qi L, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Bengtsson Boström K, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Couper DJ, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Klopp N, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Perry JR, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet-Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Mohlke KL, Morris AD, Palmer CN, Pramstaller PP, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Wareham NJ, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Hu FB, Meigs JB, Pankow JS, Pedersen O, Wichmann HE, Barroso I, Florez JC, Frayling TM, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI; MAGIC investigators; GIANT Consortium.

Nat Genet. 2010 Jul;42(7):579-89. Erratum in: Nat Genet. 2011 Apr;43(4):388.

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489.

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.

Rubio-Cabezas O, Minton JA, Kantor I, Williams D, Ellard S, Hattersley AT.

Diabetes. 2010 Sep;59(9):2326-31. Epub 2010 Jun 23.

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488.

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.

Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S.

Clin Genet. 2011 Jun;79(6):582-7. doi: 10.1111/j.1399-0004.2010.01476.x.

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487.

Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer.

Harries LW, Perry JR, McCullagh P, Crundwell M.

BMC Cancer. 2010 Jun 22;10:315.

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486.

Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV).

Grulich-Henn J, Wagner V, Thon A, Schober E, Marg W, Kapellen TM, Haberland H, Raile K, Ellard S, Flanagan SE, Hattersley AT, Holl RW.

Diabet Med. 2010 Jun;27(6):709-12.

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485.

Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro.

Wirsing A, Johnstone KA, Harries LW, Ellard S, Ryffel GU, Stanik J, Gasperikova D, Klimes I, Murphy R.

Diabet Med. 2010 Jun;27(6):631-5.

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484.

Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene.

Steele AM, Shields BM, Shepherd M, Ellard S, Hattersley AT, Pearson ER.

Diabet Med. 2010 Feb;27(2):157-61.

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483.

[Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2].

Ille J, Putarek NR, Radica A, Hattersley A, Ellard S, Dumić M.

Lijec Vjesn. 2010 Mar-Apr;132(3-4):90-3. Croatian.

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482.

Incorrect and incomplete coding and classification of diabetes: a systematic review.

Stone MA, Camosso-Stefinovic J, Wilkinson J, de Lusignan S, Hattersley AT, Khunti K.

Diabet Med. 2010 May;27(5):491-7. Review. Erratum in: Diabet Med. 2010 Jun;27(6):732.

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481.

Changes in apoptotic gene expression in lymphocytes from rheumatoid arthritis and systemic lupus erythematosus patients compared with healthy lymphocytes.

Eggleton P, Harries LW, Alberigo G, Wordsworth P, Viner N, Haigh R, Donnelly S, Jones HW, Chikanza IC, O'Conner TW, Thomson AE, Winyard PG.

J Clin Immunol. 2010 Sep;30(5):649-58. Epub 2010 Jun 9.

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480.

Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus.

Rafiq S, Frayling TM, Vyse TJ, Cunninghame Graham DS, Eggleton P.

Clin Exp Immunol. 2010 Aug;161(2):284-9. Epub 2010 May 28.

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479.

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.

Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S, Grossman AB, Korbonits M; International FIPA Consortium.

Hum Mutat. 2010 Aug;31(8):950-60.

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478.

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.

Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD.

Am J Med Genet A. 2010 Jun;152A(6):1378-82.

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477.

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S.

Diabetologia. 2010 Dec;53(12):2504-8. Epub 2010 May 25.

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 476.

Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes.

Boraska V, Rayner NW, Groves CJ, Frayling TM, Diakite M, Rockett KA, Kwiatkowski DP, Day-Williams AG, McCarthy MI, Zeggini E.

BMC Med Genet. 2010 May 6;11:69.

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475.

KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes.

Khadilkar VV, Khadilkar AV, Kapoor RR, Hussain K, Hattersley AT, Ellard S.

Indian J Pediatr. 2010 May;77(5):551-4. Epub 2010 Apr 17.

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474.

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.

Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, Lange LA, Bradfield JP, Kerkhof M, Marsh JA, Mägi R, Chen CM, Lyon HN, Kirin M, Adair LS, Aulchenko YS, Bennett AJ, Borja JB, Bouatia-Naji N, Charoen P, Coin LJ, Cousminer DL, de Geus EJ, Deloukas P, Elliott P, Evans DM, Froguel P; Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Glaser B, Groves CJ, Hartikainen AL, Hassanali N, Hirschhorn JN, Hofman A, Holly JM, Hyppönen E, Kanoni S, Knight BA, Laitinen J, Lindgren CM; Meta-Analyses of Glucose and Insulin-related traits Consortium, McArdle WL, O'Reilly PF, Pennell CE, Postma DS, Pouta A, Ramasamy A, Rayner NW, Ring SM, Rivadeneira F, Shields BM, Strachan DP, Surakka I, Taanila A, Tiesler C, Uitterlinden AG, van Duijn CM; Wellcome Trust Case Control Consortium, Wijga AH, Willemsen G, Zhang H, Zhao J, Wilson JF, Steegers EA, Hattersley AT, Eriksson JG, Peltonen L, Mohlke KL, Grant SF, Hakonarson H, Koppelman GH, Dedoussis GV, Heinrich J, Gillman MW, Palmer LJ, Frayling TM, Boomsma DI, Davey Smith G, Power C, Jaddoe VW, Jarvelin MR; Early Growth Genetics (EGG) Consortium, McCarthy MI.

Nat Genet. 2010 May;42(5):430-5. Epub 2010 Apr 6.

PMID: 20372150 [PubMed - indexed for MEDLINE]

473.

Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age.

Jones AG, Hattersley AT.

Nat Rev Endocrinol. 2010 Jun;6(6):347-51. Epub 2010 Apr 6.

PMID: 20368737 [PubMed - indexed for MEDLINE]

472.

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Armer M, Maller J, Mansfield J, Martin P, Massey DC, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C, Myers S, Newman W, Nimmo ER, O'Donovan MC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Pernet D, Perry JR, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick, Ring SM, Robertson N, Russell E, St Clair D, Sambrook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DP, Thompson JR, Thomson W, Travers ME, Turnbull C, Valsesia A, Walker M, Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand W, Parkes M, Rahman N, Todd JA, Samani NJ, Donnelly P.

Nature. 2010 Apr 1;464(7289):713-20.

PMID: 20360734 [PubMed - indexed for MEDLINE]

471.

Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.

Bennett CE, Conway GS, Macpherson JN, Jacobs PA, Murray A.

Hum Reprod. 2010 May;25(5):1335-8. Epub 2010 Mar 13.

PMID: 20228389 [PubMed - indexed for MEDLINE]

470.

Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks.

Kumaran A, Kapoor RR, Flanagan SE, Ellard S, Hussain K.

Horm Res Paediatr. 2010;73(4):287-92. Epub 2010 Mar 9.

PMID: 20215776 [PubMed - indexed for MEDLINE]

469.

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

Flanagan SE, Kapoor RR, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, Shield JP, Hussain K, Ellard S.

Eur J Endocrinol. 2010 May;162(5):987-92. Epub 2010 Feb 17.

PMID: 20164212 [PubMed - indexed for MEDLINE]

468.

Rfx6 directs islet formation and insulin production in mice and humans.

Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y, Patch AM, Grabs R, Wang J, Lynn FC, Miyatsuka T, Mitchell J, Seerke R, Désir J, Eijnden SV, Abramowicz M, Kacet N, Weill J, Renard ME, Gentile M, Hansen I, Dewar K, Hattersley AT, Wang R, Wilson ME, Johnson JD, Polychronakos C, German MS.

Nature. 2010 Feb 11;463(7282):775-80.

PMID: 20148032 [PubMed - indexed for MEDLINE]

467.

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group, Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT.

Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-10. Epub 2010 Jan 28.

PMID: 20133622 [PubMed - indexed for MEDLINE]

466.

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

Balasubramanian M, Shield JP, Acerini CL, Walker J, Ellard S, Marchand M, Polak M, Vaxillaire M, Crolla JA, Bunyan DJ, Mackay DJ, Temple IK.

Am J Med Genet A. 2010 Feb;152A(2):340-6.

PMID: 20082465 [PubMed - indexed for MEDLINE]

465.

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, Elliott P, Rybin D, Thorleifsson G, Steinthorsdottir V, Henneman P, Grallert H, Dehghan A, Hottenga JJ, Franklin CS, Navarro P, Song K, Goel A, Perry JR, Egan JM, Lajunen T, Grarup N, Sparsø T, Doney A, Voight BF, Stringham HM, Li M, Kanoni S, Shrader P, Cavalcanti-Proença C, Kumari M, Qi L, Timpson NJ, Gieger C, Zabena C, Rocheleau G, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA, Payne F, Roccasecca RM, Pattou F, Sethupathy P, Ardlie K, Ariyurek Y, Balkau B, Barter P, Beilby JP, Ben-Shlomo Y, Benediktsson R, Bennett AJ, Bergmann S, Bochud M, Boerwinkle E, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Charpentier G, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Cornelis M, Crawford G, Crisponi L, Day IN, de Geus EJ, Delplanque J, Dina C, Erdos MR, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Fox CS, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Groves CJ, Grundy S, Gwilliam R, Gyllensten U, Hadjadj S, Hallmans G, Hammond N, Han X, Hartikainen AL, Hassanali N, Hayward C, Heath SC, Hercberg S, Herder C, Hicks AA, Hillman DR, Hingorani AD, Hofman A, Hui J, Hung J, Isomaa B, Johnson PR, Jørgensen T, Jula A, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Lyssenko V, Mahley R, Mangino M, Manning AK, Martínez-Larrad MT, McAteer JB, McCulloch LJ, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Morken MA, Mukherjee S, Naitza S, Narisu N, Neville MJ, Oostra BA, Orrù M, Pakyz R, Palmer CN, Paolisso G, Pattaro C, Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I, Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM, Rathmann W, Rayner NW, Rice K, Ripatti S, Rivadeneira F, Roden M, Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P, Scott LJ, Seedorf U, Sharp SJ, Shields B, Sigurethsson G, Sijbrands EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A, Syddall H, Syvänen AC, Tanaka T, Thorand B, Tichet J, Tönjes A, Tuomi T, Uitterlinden AG, van Dijk KW, van Hoek M, Varma D, Visvikis-Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ, Walley A, Walters GB, Ward KL, Watkins H, Weedon MN, Wild SH, Willemsen G, Witteman JC, Yarnell JW, Zeggini E, Zelenika D, Zethelius B, Zhai G, Zhao JH, Zillikens MC; DIAGRAM Consortium; GIANT Consortium; Global BPgen Consortium, Borecki IB, Loos RJ, Meneton P, Magnusson PK, Nathan DM, Williams GH, Hattersley AT, Silander K, Salomaa V, Smith GD, Bornstein SR, Schwarz P, Spranger J, Karpe F, Shuldiner AR, Cooper C, Dedoussis GV, Serrano-Ríos M, Morris AD, Lind L, Palmer LJ, Hu FB, Franks PW, Ebrahim S, Marmot M, Kao WH, Pankow JS, Sampson MJ, Kuusisto J, Laakso M, Hansen T, Pedersen O, Pramstaller PP, Wichmann HE, Illig T, Rudan I, Wright AF, Stumvoll M, Campbell H, Wilson JF; Anders Hamsten on behalf of Procardis Consortium; MAGIC investigators, Bergman RN, Buchanan TA, Collins FS, Mohlke KL, Tuomilehto J, Valle TT, Altshuler D, Rotter JI, Siscovick DS, Penninx BW, Boomsma DI, Deloukas P, Spector TD, Frayling TM, Ferrucci L, Kong A, Thorsteinsdottir U, Stefansson K, van Duijn CM, Aulchenko YS, Cao A, Scuteri A, Schlessinger D, Uda M, Ruokonen A, Jarvelin MR, Waterworth DM, Vollenweider P, Peltonen L, Mooser V, Abecasis GR, Wareham NJ, Sladek R, Froguel P, Watanabe RM, Meigs JB, Groop L, Boehnke M, McCarthy MI, Florez JC, Barroso I.

Nat Genet. 2010 Feb;42(2):105-16. Epub 2010 Jan 17. Erratum in: Nat Genet.2010 May;42(5):464.

PMID: 20081858 [PubMed - indexed for MEDLINE]

464.

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.

Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, Stringham HM, Prokopenko I, Johnson T, Grarup N, Boesgaard TW, Lecoeur C, Shrader P, O'Connell J, Ingelsson E, Couper DJ, Rice K, Song K, Andreasen CH, Dina C, Köttgen A, Le Bacquer O, Pattou F, Taneera J, Steinthorsdottir V, Rybin D, Ardlie K, Sampson M, Qi L, van Hoek M, Weedon MN, Aulchenko YS, Voight BF, Grallert H, Balkau B, Bergman RN, Bielinski SJ, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Buchanan TA, Bumpstead SJ, Cavalcanti-Proença C, Charpentier G, Chen YD, Chines PS, Collins FS, Cornelis M, J Crawford G, Delplanque J, Doney A, Egan JM, Erdos MR, Firmann M, Forouhi NG, Fox CS, Goodarzi MO, Graessler J, Hingorani A, Isomaa B, Jørgensen T, Kivimaki M, Kovacs P, Krohn K, Kumari M, Lauritzen T, Lévy-Marchal C, Mayor V, McAteer JB, Meyre D, Mitchell BD, Mohlke KL, Morken MA, Narisu N, Palmer CN, Pakyz R, Pascoe L, Payne F, Pearson D, Rathmann W, Sandbaek A, Sayer AA, Scott LJ, Sharp SJ, Sijbrands E, Singleton A, Siscovick DS, Smith NL, Sparsø T, Swift AJ, Syddall H, Thorleifsson G, Tönjes A, Tuomi T, Tuomilehto J, Valle TT, Waeber G, Walley A, Waterworth DM, Zeggini E, Zhao JH; GIANT consortium; MAGIC investigators, Illig T, Wichmann HE, Wilson JF, van Duijn C, Hu FB, Morris AD, Frayling TM, Hattersley AT, Thorsteinsdottir U, Stefansson K, Nilsson P, Syvänen AC, Shuldiner AR, Walker M, Bornstein SR, Schwarz P, Williams GH, Nathan DM, Kuusisto J, Laakso M, Cooper C, Marmot M, Ferrucci L, Mooser V, Stumvoll M, Loos RJ, Altshuler D, Psaty BM, Rotter JI, Boerwinkle E, Hansen T, Pedersen O, Florez JC, McCarthy MI, Boehnke M, Barroso I, Sladek R, Froguel P, Meigs JB, Groop L, Wareham NJ, Watanabe RM.

Nat Genet. 2010 Feb;42(2):142-8. Epub 2010 Jan 17.

PMID: 20081857 [PubMed - indexed for MEDLINE]

463.

Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.

Edghill EL, Minton JA, Groves CJ, Flanagan SE, Patch AM, Rubio-Cabezas O, Shepherd M, Lenzen S, McCarthy MI, Ellard S, Hattersley AT.

JOP. 2010 Jan 8;11(1):14-7.

PMID: 20065546 [PubMed - indexed for MEDLINE]

462.

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.

Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CA, Petz O, Mannikko R, Kapoor RR, Hussain K, Skae M, Clayton P, Hattersley A, Ellard S, Ashcroft FM.

EMBO Mol Med. 2009 Jun;1(3):166-77.

PMID: 20049716 [PubMed - indexed for MEDLINE]

461.

A powerful approach to sub-phenotype analysis in population-based genetic association studies.

Morris AP, Lindgren CM, Zeggini E, Timpson NJ, Frayling TM, Hattersley AT, McCarthy MI.

Genet Epidemiol. 2010 May;34(4):335-43.

PMID: 20039379 [PubMed - indexed for MEDLINE]

460.

The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people.

Cluett C, McDermott MM, Guralnik J, Ferrucci L, Bandinelli S, Miljkovic I, Zmuda JM, Li R, Tranah G, Harris T, Rice N, Henley W, Frayling TM, Murray A, Melzer D.

Circ Cardiovasc Genet. 2009 Aug;2(4):347-53. Epub 2009 Jun 23.

PMID: 20031606 [PubMed - indexed for MEDLINE]

459.

Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.

Fawcett KA, Wheeler E, Morris AP, Ricketts SL, Hallmans G, Rolandsson O, Daly A, Wasson J, Permutt A, Hattersley AT, Glaser B, Franks PW, McCarthy MI, Wareham NJ, Sandhu MS, Barroso I.

Diabetes. 2010 Mar;59(3):741-6. Epub 2009 Dec 22.

PMID: 20028947 [PubMed - indexed for MEDLINE]

458.

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

Männikkö R, Jefferies C, Flanagan SE, Hattersley A, Ellard S, Ashcroft FM.

Hum Mol Genet. 2010 Mar 15;19(6):963-72. Epub 2009 Dec 18.

PMID: 20022885 [PubMed - indexed for MEDLINE]

457.

Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.

Heid IM, Henneman P, Hicks A, Coassin S, Winkler T, Aulchenko YS, Fuchsberger C, Song K, Hivert MF, Waterworth DM, Timpson NJ, Richards JB, Perry JR, Tanaka T, Amin N, Kollerits B, Pichler I, Oostra BA, Thorand B, Frants RR, Illig T, Dupuis J, Glaser B, Spector T, Guralnik J, Egan JM, Florez JC, Evans DM, Soranzo N, Bandinelli S, Carlson OD, Frayling TM, Burling K, Smith GD, Mooser V, Ferrucci L, Meigs JB, Vollenweider P, Dijk KW, Pramstaller P, Kronenberg F, van Duijn CM.

Atherosclerosis. 2010 Feb;208(2):412-20. Epub 2009 Dec 2.

PMID: 20018283 [PubMed - indexed for MEDLINE]

456.

A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.

Richards JB, Waterworth D, O'Rahilly S, Hivert MF, Loos RJ, Perry JR, Tanaka T, Timpson NJ, Semple RK, Soranzo N, Song K, Rocha N, Grundberg E, Dupuis J, Florez JC, Langenberg C, Prokopenko I, Saxena R, Sladek R, Aulchenko Y, Evans D, Waeber G, Erdmann J, Burnett MS, Sattar N, Devaney J, Willenborg C, Hingorani A, Witteman JC, Vollenweider P, Glaser B, Hengstenberg C, Ferrucci L, Melzer D, Stark K, Deanfield J, Winogradow J, Grassl M, Hall AS, Egan JM, Thompson JR, Ricketts SL, König IR, Reinhard W, Grundy S, Wichmann HE, Barter P, Mahley R, Kesaniemi YA, Rader DJ, Reilly MP, Epstein SE, Stewart AF, Van Duijn CM, Schunkert H, Burling K, Deloukas P, Pastinen T, Samani NJ, McPherson R, Davey Smith G, Frayling TM, Wareham NJ, Meigs JB, Mooser V, Spector TD; GIANT Consortium.

PLoS Genet. 2009 Dec;5(12):e1000768. Epub 2009 Dec 11.

PMID: 20011104 [PubMed - indexed for MEDLINE]

455.

Novel biological insights emerging from genetic studies of type 2 diabetes and related metabolic traits.

De Silva NM, Frayling TM.

Curr Opin Lipidol. 2010 Feb;21(1):44-50. Review.

PMIID: 19956073 [PubMed - indexed for MEDLINE]

454.

Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes.

Perry JR, Weedon MN, Langenberg C, Jackson AU, Lyssenko V, Sparsø T, Thorleifsson G, Grallert H, Ferrucci L, Maggio M, Paolisso G, Walker M, Palmer CN, Payne F, Young E, Herder C, Narisu N, Morken MA, Bonnycastle LL, Owen KR, Shields B, Knight B, Bennett A, Groves CJ, Ruokonen A, Jarvelin MR, Pearson E, Pascoe L, Ferrannini E, Bornstein SR, Stringham HM, Scott LJ, Kuusisto J, Nilsson P, Neptin M, Gjesing AP, Pisinger C, Lauritzen T, Sandbaek A, Sampson M; MAGIC, Zeggini E, Lindgren CM, Steinthorsdottir V, Thorsteinsdottir U, Hansen T, Schwarz P, Illig T, Laakso M, Stefansson K, Morris AD, Groop L, Pedersen O, Boehnke M, Barroso I, Wareham NJ, Hattersley AT, McCarthy MI, Frayling TM.

Hum Mol Genet. 2010 Feb 1;19(3):535-44. Epub 2009 Nov 18.

PMID: 19933169 [PubMed - indexed for MEDLINE]

453.

Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes.

Harries LW, Brown JE, Gloyn AL.

PLoS One. 2009 Nov 16;4(11):e7855.

PMID: 19924231 [PubMed - indexed for MEDLINE]

452.

Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes.

Rubio-Cabezas O, Edghill EL, Argente J, Hattersley AT.

Diabet Med. 2009 Oct;26(10):1070-4.

PMID: 19900242 [PubMed - indexed for MEDLINE]

451.

Genetic association analysis of LARS2 with type 2 diabetes.

Reiling E, Jafar-Mohammadi B, van 't Riet E, Weedon MN, van Vliet-Ostaptchouk JV, Hansen T, Saxena R, van Haeften TW, Arp PA, Das S, Nijpels G, Groenewoud MJ, van Hove EC, Uitterlinden AG, Smit JW, Morris AD, Doney AS, Palmer CN, Guiducci C, Hattersley AT, Frayling TM, Pedersen O, Slagboom PE, Altshuler DM, Groop L, Romijn JA, Maassen JA, Hofker MH, Dekker JM, McCarthy MI, 't Hart LM.

Diabetologia. 2010 Jan;53(1):103-10. Epub 2009 Oct 22.

PMID: 19847392 [PubMed - indexed for MEDLINE]

450.

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. Epub 2009 Oct 16. Erratum in: J Clin Endocrinol Metab. 2010 Mar;95(3):1480. Tukkahrman, Doga [corrected to Turkkahraman, Doga].

PMID: 19837917 [PubMed - indexed for MEDLINE]

449.

Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy.

Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B.

J Clin Endocrinol Metab. 2009 Nov;94(11):4608-12. Epub 2009 Oct 9.

PMID: 19820008 [PubMed - indexed for MEDLINE]

448.

Loss-of-function CYP2C9 variants improve therapeutic response to sulfonylureas in type 2 diabetes: a Go-DARTS study.

Zhou K, Donnelly L, Burch L, Tavendale R, Doney AS, Leese G, Hattersley AT, McCarthy MI, Morris AD, Lang CC, Palmer CN, Pearson ER.

Clin Pharmacol Ther. 2010 Jan;87(1):52-6. Epub 2009 Sep 30.

PMID: 19794412 [PubMed - indexed for MEDLINE]

447.

Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.

Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, Hattersley AT, Weedon MN.

Diabetes. 2010 Jan;59(1):266-71. Epub 2009 Sep 30.

PMID: 19794065 [PubMed - indexed for MEDLINE]

446.

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL.

Hum Mutat. 2009 Nov;30(11):1512-26. Review.

PMID: 19790256 [PubMed - indexed for MEDLINE]

445.

Investigating the targets of MIR-15a and MIR-16-1 in patients with chronic lymphocytic leukemia (CLL).

Hanlon K, Rudin CE, Harries LW.

PLoS One. 2009 Sep 25;4(9):e7169.

PMID: 19779621 [PubMed - indexed for MEDLINE]

444.

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.

Torsvik J, Johansson S, Johansen A, Ek J, Minton J, Raeder H, Ellard S, Hattersley A, Pedersen O, Hansen T, Molven A, Njølstad PR.

Hum Genet. 2010 Jan;127(1):55-64. Epub 2009 Sep 17.

PMID: 19760265 [PubMed - indexed for MEDLINE]

443.

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

Suliman SG, Stanik J, McCulloch LJ, Wilson N, Edghill EL, Misovicova N, Gasperikova D, Sandrikova V, Elliott KS, Barak L, Ellard S, Volpi EV, Klimes I, Gloyn AL.

Diabetes. 2009 Dec;58(12):2954-61. Epub 2009 Aug 31.

PMID: 19720790 [PubMed - indexed for MEDLINE]

442.

Stability and reproducibility of a single-sample urinary C-peptide/creatinine ratio and its correlation with 24-h urinary C-peptide.

McDonald TJ, Knight BA, Shields BM, Bowman P, Salzmann MB, Hattersley AT.

Clin Chem. 2009 Nov;55(11):2035-9. Epub 2009 Aug 27.

PMID: 19713273 [PubMed - indexed for MEDLINE]

441.

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.

Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Ben-Omran T, Banerjee I, Shield JP, Ellard S, Hussain K.

Eur J Endocrinol. 2009 Nov;161(5):731-5. Epub 2009 Aug 18.

PMID: 19690084 [PubMed - indexed for MEDLINE]

440.

Randomized phase II study comparing two schedules of everolimus in patients with recurrent/metastatic breast cancer: NCIC Clinical Trials Group IND.163.

Ellard SL, Clemons M, Gelmon KA, Norris B, Kennecke H, Chia S, Pritchard K, Eisen A, Vandenberg T, Taylor M, Sauerbrei E, Mishaeli M, Huntsman D, Walsh W, Olivo M, McIntosh L, Seymour L.

J Clin Oncol. 2009 Sep 20;27(27):4536-41. Epub 2009 Aug 17.

PMID: 19687332 [PubMed - indexed for MEDLINE]

439.

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.

Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL.

PLoS One. 2009 Aug 12;4(8):e6615.

PMID: 19672314 [PubMed - indexed for MEDLINE]

438.

Circulating beta-carotene levels and type 2 diabetes-cause or effect?

Perry JR, Ferrucci L, Bandinelli S, Guralnik J, Semba RD, Rice N, Melzer D; DIAGRAM Consortium, Saxena R, Scott LJ, McCarthy MI, Hattersley AT, Zeggini E, Weedon MN, Frayling TM.

Diabetologia. 2009 Oct;52(10):2117-21. Epub 2009 Aug 7.

PMID: 19662379 [PubMed - indexed for MEDLINE]

437.

The paraoxonase (PON1) Q192R polymorphism is not associated with poor health status or depression in the ELSA or INCHIANTI studies.

Rice NE, Bandinelli S, Corsi AM, Ferrucci L, Guralnik JM, Miller MA, Kumari M, Murray A, Frayling TM, Melzer D.

Int J Epidemiol. 2009 Oct;38(5):1374-9. Epub 2009 Aug 3.

PMID: 19651761 [PubMed - indexed for MEDLINE]

436.

Variants in the isoform-specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young-onset diabetes or renal cysts and diabetes (RCAD).

Locke JM, Ellard S, Norwood VF, Harries LW.

Diabet Med. 2009 May;26(5):569-70. No abstract available.

PMID: 19646202 [PubMed - indexed for MEDLINE]

435.

Evaluation of 13q14 status in multiple myeloma by digital single nucleotide polymorphism technology.

Hanlon K, Harries LW, Ellard S, Rudin CE.

J Mol Diagn. 2009 Sep;11(5):450-7. Epub 2009 Jul 30.

PMID: 19644022 [PubMed - indexed for MEDLINE]

434.

Interleukin-18 polymorphism and physical functioning in older people: a replication study and meta-analysis.

Thomas K, Rafiq S, Frayling TM, Ebrahim S, Kumari M, Gallacher J, Ferrucci L, Bandinelli S, Wallace RB, Melzer D, Martin RM, Ben-Shlomo Y.

J Gerontol A Biol Sci Med Sci. 2009 Nov;64(11):1177-82. Epub 2009 Jul 24.

PMID: 19633236 [PubMed - indexed for MEDLINE]

433.

Underlying genetic models of inheritance in established type 2 diabetes associations.

Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I, Boehnke M, Cornelis MC, Frayling TM, Grallert H, Grarup N, Groop L, Hansen T, Hattersley AT, Hu FB, Hveem K, Illig T, Kuusisto J, Laakso M, Langenberg C, Lyssenko V, McCarthy MI, Morris A, Morris AD, Palmer CN, Payne F, Platou CG, Scott LJ, Voight BF, Wareham NJ, Zeggini E, Ioannidis JP.

Am J Epidemiol. 2009 Sep 1;170(5):537-45. Epub 2009 Jul 14.

PMID: 19602701 [PubMed - indexed for MEDLINE]

432.

Commentary: A new dawn for genetic epidemiology?

Frayling TM.

Int J Epidemiol. 2009 Aug;38(4):975-7. Epub 2009 Jul 7. No abstract available.

PMID: 19584124 [PubMed - indexed for MEDLINE]

431

Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes.

Edghill EL, Hameed S, Verge CF, Rubio-Cabezas O, Argente J, Sumnik Z, Dusatkova P, Cliffe ST, Hennekam RC, Buckley MF, Hussain K, Ellard S, Attersley AT.

JOP. 2009 Jul 6;10(4):457-8. No abstract available.

PMID: 19581757 [PubMed - indexed for MEDLINE]

430.

Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene.

Conn JJ, Simm PJ, Oats JJ, Nankervis AJ, Jacobs SE, Ellard S, Hattersley AT.

Aust N Z J Obstet Gynaecol. 2009 Jun;49(3):328-30.

PMID: 19566570 [PubMed - indexed for MEDLINE]

429.

Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.

Abdul-Rahman OA, Edghill EL, Kwan A, Enns GM, Hattersley AT.

J Pediatr Hematol Oncol. 2009 Jul;31(7):527-9.

PMID: 19564751 [PubMed - indexed for MEDLINE]

428.

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V, Qi L, Speliotes EK, Thorleifsson G, Willer CJ, Herrera BM, Jackson AU, Lim N, Scheet P, Soranzo N, Amin N, Aulchenko YS, Chambers JC, Drong A, Luan J, Lyon HN, Rivadeneira F, Sanna S, Timpson NJ, Zillikens MC, Zhao JH, Almgren P, Bandinelli S, Bennett AJ, Bergman RN, Bonnycastle LL, Bumpstead SJ, Chanock SJ, Cherkas L, Chines P, Coin L, Cooper C, Crawford G, Doering A, Dominiczak A, Doney AS, Ebrahim S, Elliott P, Erdos MR, Estrada K, Ferrucci L, Fischer G, Forouhi NG, Gieger C, Grallert H, Groves CJ, Grundy S, Guiducci C, Hadley D, Hamsten A, Havulinna AS, Hofman A, Holle R, Holloway JW, Illig T, Isomaa B, Jacobs LC, Jameson K, Jousilahti P, Karpe F, Kuusisto J, Laitinen J, Lathrop GM, Lawlor DA, Mangino M, McArdle WL, Meitinger T, Morken MA, Morris AP, Munroe P, Narisu N, Nordström A, Nordström P, Oostra BA, Palmer CN, Payne F, Peden JF, Prokopenko I, Renström F, Ruokonen A, Salomaa V, Sandhu MS, Scott LJ, Scuteri A, Silander K, Song K, Yuan X, Stringham HM, Swift AJ, Tuomi T, Uda M, Vollenweider P, Waeber G, Wallace C, Walters GB, Weedon MN; Wellcome Trust Case Control Consortium, Witteman JC, Zhang C, Zhang W, Caulfield MJ, Collins FS, Davey Smith G, Day IN, Franks PW, Hattersley AT, Hu FB, Jarvelin MR, Kong A, Kooner JS, Laakso M, Lakatta E, Mooser V, Morris AD, Peltonen L, Samani NJ, Spector TD, Strachan DP, Tanaka T, Tuomilehto J, Uitterlinden AG, van Duijn CM, Wareham NJ, Hugh Watkins; Procardis Consortia, Waterworth DM, Boehnke M, Deloukas P, Groop L, Hunter DJ, Thorsteinsdottir U, Schlessinger D, Wichmann HE, Frayling TM, Abecasis GR, Hirschhorn JN, Loos RJ, Stefansson K, Mohlke KL, Barroso I, McCarthy MI; Giant Consortium.

PLoS Genet. 2009 Jun;5(6):e1000508. Epub 2009 Jun 26. Erratum in: PLoS Genet. 2009 Jul;5(7). doi: 10.1371/annotation/b6e8f9f6-2496-4a40-b0e3-e1d1390c1928.

PMID: 19557161 [PubMed - indexed for MEDLINE]

427.

Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

Southam L, Soranzo N, Montgomery SB, Frayling TM, McCarthy MI, Barroso I, Zeggini E.

Diabetologia. 2009 Sep;52(9):1846-51. Epub 2009 Jun 13.

PMID: 19526209 [PubMed - indexed for MEDLINE]

426.

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births.

Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, Mlynarski W, Malecki MT, Hattersley AT, Ellard S.

Diabetologia. 2009 Aug;52(8):1683-5. Epub 2009 Jun 5. No abstract available.

PMID: 19499210 [PubMed - indexed for MEDLINE]

425.

Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.

Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, Steichen E, Meraner D, Zimmerhackl LB, Hattersley AT, Ellard S, Hofer S.

Pediatr Diabetes. 2010 Feb;11(1):18-23. Epub 2009 Jun 3.

PMID: 19496964 [PubMed - indexed for MEDLINE]

424.

Evaluation of 13q14 status in patients with chronic lymphocytic leukemia using single nucleotide polymorphism-based techniques.

Hanlon K, Ellard S, Rudin CE, Thorne S, Davies T, Harries LW.

J Mol Diagn. 2009 Jul;11(4):298-305. Epub 2009 May 21.

PMID: 19460942 [PubMed - indexed for MEDLINE]

423

Common genetic variation in the melatonin receptor 1B gene (MTNR1B) is associated with decreased early-phase insulin response.

Langenberg C, Pascoe L, Mari A, Tura A, Laakso M, Frayling TM, Barroso I, Loos RJ, Wareham NJ, Walker M; RISC Consortium.

Diabetologia. 2009 Aug;52(8):1537-42. Epub 2009 May 20.

PMID: 19455304 [PubMed - indexed for MEDLINE]

422.

Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.

Perry JR, Stolk L, Franceschini N, Lunetta KL, Zhai G, McArdle PF, Smith AV, Aspelund T, Bandinelli S, Boerwinkle E, Cherkas L, Eiriksdottir G, Estrada K, Ferrucci L, Folsom AR, Garcia M, Gudnason V, Hofman A, Karasik D, Kiel DP, Launer LJ, van Meurs J, Nalls MA, Rivadeneira F, Shuldiner AR, Singleton A, Soranzo N, Tanaka T, Visser JA, Weedon MN, Wilson SG, Zhuang V, Streeten EA, Harris TB, Murray A, Spector TD, Demerath EW, Uitterlinden AG, Murabito JM.

Nat Genet. 2009 Jun;41(6):648-50. Epub 2009 May 17.

PMID: 19448620 [PubMed - indexed for MEDLINE]

421.

Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.

Kumaraguru J, Flanagan SE, Greeley SA, Nuboer R, Støy J, Philipson LH, Hattersley AT, Rubio-Cabezas O.

Diabetes Care. 2009 Aug;32(8):1428-30. Epub 2009 May 12.

PMID: 19435956 [PubMed - indexed for MEDLINE]

420.

Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.

Murray A, Cluett C, Bandinelli S, Corsi AM, Ferrucci L, Guralnik J, Singleton A, Frayling T, Melzer D.

Eur Heart J. 2009 Jul;30(14):1711-9. Epub 2009 May 12.

PMID: 19435741 [PubMed - indexed for MEDLINE]

419.

A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy.

Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT.

Hum Mol Genet. 2009 Aug 1;18(15):2922-7. Epub 2009 May 9.

PMID: 19429911 [PubMed - indexed for MEDLINE]

418.

3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, Hussain K.

J Clin Endocrinol Metab. 2009 Jul;94(7):2221-5. Epub 2009 May 5.

PMID: 19417036 [PubMed - indexed for MEDLINE]

417.

Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.

Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, Bereczková E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S, Klimes I, Gloyn AL.

Diabetes. 2009 Aug;58(8):1929-35. Epub 2009 May 1.

PMID: 19411616 [PubMed - indexed for MEDLINE]

416.

Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.

Ellard S, Shields B, Tysoe C, Treacy R, Yau S, Mattocks C, Wallace A.

Genet Test Mol Biomarkers. 2009 Jun;13(3):381-6.

PMID: 19405871 [PubMed - indexed for MEDLINE]

415.

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2009 May;20(5):1123-31. Epub 2009 Apr 23.

PMID: 19389850 [PubMed - indexed for MEDLINE]

414.

Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q.

Prokopenko I, Zeggini E, Hanson RL, Mitchell BD, Rayner NW, Akan P, Baier L, Das SK, Elliott KS, Fu M, Frayling TM, Groves CJ, Gwilliam R, Scott LJ, Voight BF, Hattersley AT, Hu C, Morris AD, Ng M, Palmer CN, Tello-Ruiz M, Vaxillaire M, Wang CR, Stein L, Chan J, Jia W, Froguel P, Elbein SC, Deloukas P, Bogardus C, Shuldiner AR, McCarthy MI; International Type 2 Diabetes 1q Consortium.

Diabetes. 2009 Jul;58(7):1704-9. Epub 2009 Apr 23.

PMID: 19389826 [PubMed - indexed for MEDLINE]

413.

A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.

Shepherd M, Shields B, Ellard S, Rubio-Cabezas O, Hattersley AT.

Diabet Med. 2009 Apr;26(4):437-41.

PMID: 19388975 [PubMed - indexed for MEDLINE]

412.

Spondylocostal dysostosis associated with methylmalonic aciduria.

Honjo RS, Casella EB, Vieira MA, Bertola DR, Albano LM, Oliveira LA, Nomachi S, Hanai J, Benoist JF, Ellard S, Young E, Kim CA.

Genet Test Mol Biomarkers. 2009 Apr;13(2):181-3.

PMID: 19371216 [PubMed - indexed for MEDLINE]

411.

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.

Craig TJ, Shimomura K, Holl RW, Flanagan SE, Ellard S, Ashcroft FM.

J Clin Endocrinol Metab. 2009 Jul;94(7):2551-7. Epub 2009 Apr 7.

PMID: 19351728 [PubMed - indexed for MEDLINE]

410.

Reduced-function SLC22A1 polymorphisms encoding organic cation transporter 1 and glycemic response to metformin: a GoDARTS study.

Zhou K, Donnelly LA, Kimber CH, Donnan PT, Doney AS, Leese G, Hattersley AT, McCarthy MI, Morris AD, Palmer CN, Pearson ER.

Diabetes. 2009 Jun;58(6):1434-9. Epub 2009 Mar 31.

PMID: 19336679 [PubMed - indexed for MEDLINE]

409.

FTO gene variation and measures of body mass in an African population.

Hennig BJ, Fulford AJ, Sirugo G, Rayco-Solon P, Hattersley AT, Frayling TM, Prentice AM.

BMC Med Genet. 2009 Mar 5;10:21.

PMID: 19265514 [PubMed - indexed for MEDLINE]

408.

Dietary energy density affects fat mass in early adolescence and is not modified by FTO variants.

Johnson L, van Jaarsveld CH, Emmett PM, Rogers IS, Ness AR, Hattersley AT, Timpson NJ, Smith GD, Jebb SA.

PLoS One. 2009;4(3):e4594. Epub 2009 Mar 4.

PMID: 19259258 [PubMed - indexed for MEDLINE]

 

407.

Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach.

Perry JR, McCarthy MI, Hattersley AT, Zeggini E; Wellcome Trust Case Control Consortium, Weedon MN, Frayling TM.

Diabetes. 2009 Jun;58(6):1463-7. Epub 2009 Feb 27.

PMID: 19252133 [PubMed - indexed for MEDLINE]

406.

Type 2 diabetes risk alleles are associated with reduced size at birth.

Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, Perry JR, Pouta A, Ruokonen A, Hyppönen E, Power C, Elliott P, Strachan DP, Järvelin MR, Smith GD, McCarthy MI, Frayling TM, Hattersley AT.

Diabetes. 2009 Jun;58(6):1428-33. Epub 2009 Feb 19.

PMID: 19228808 [PubMed - indexed for MEDLINE]

405.

Predicting human height by Victorian and genomic methods.

Aulchenko YS, Struchalin MV, Belonogova NM, Axenovich TI, Weedon MN, Hofman A, Uitterlinden AG, Kayser M, Oostra BA, van Duijn CM, Janssens AC, Borodin PM.

Eur J Hum Genet. 2009 Aug;17(8):1070-5. Epub 2009 Feb 18.

PMID: 19223933 [PubMed - indexed for MEDLINE]

404.

Hyperinsulinaemic hypoglycaemia.

Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K.

Arch Dis Child. 2009 Jun;94(6):450-7. Epub 2009 Feb 4. Review.

PMID: 19193661 [PubMed - indexed for MEDLINE]

403.

Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients.

Panicker V, Saravanan P, Vaidya B, Evans J, Hattersley AT, Frayling TM, Dayan CM.

J Clin Endocrinol Metab. 2009 May;94(5):1623-9. Epub 2009 Feb 3.

PMID: 19190113 [PubMed - indexed for MEDLINE]

402.

Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.

Ferrucci L, Perry JR, Matteini A, Perola M, Tanaka T, Silander K, Rice N, Melzer D, Murray A, Cluett C, Fried LP, Albanes D, Corsi AM, Cherubini A, Guralnik J, Bandinelli S, Singleton A, Virtamo J, Walston J, Semba RD, Frayling TM.

Am J Hum Genet. 2009 Feb;84(2):123-33. Epub 2009 Jan 29.

PMID: 19185284 [PubMed - indexed for MEDLINE]

401.

Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.

Della Manna T, Battistim C, Radonsky V, Savoldelli RD, Damiani D, Kok F, Pearson ER, Ellard S, Hattersley AT, Reis AF.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1350-5.

PMID: 19169493 [PubMed - indexed for MEDLINE]

400.

Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction.

Edghill EL, McCulloch L, Fulton P, Beer N, Hattersley AT, Gloyn AL.

Diabet Med. 2009 Jan;26(1):113-4. No abstract available.

PMID: 19125775 [PubMed - indexed for MEDLINE]

399.

Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation.

Spyer G, Macleod KM, Shepherd M, Ellard S, Hattersley AT.

Diabet Med. 2009 Jan;26(1):14-8.

PMID: 19125755 [PubMed - indexed for MEDLINE]

398.

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.

Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, Qi L, Randall JC, Roccasecca RM, Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JH, Jacobs LC, Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP, Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GD, Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM, Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D, Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB, Johnson T, Jousilahti P, Jovanovic Z, Khaw KT, Kraft P, Kuokkanen M, Kuusisto J, Laitinen J, Lakatta EG, Luan J, Luben RN, Mangino M, McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR, Northstone K, O'Rahilly S, Purmann C, Rees MG, Ridderstråle M, Ring SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ, Scuteri A, Silander K, Sims MA, Song K, Stephens J, Stevens S, Stringham HM, Tung YC, Valle TT, Van Duijn CM, Vimaleswaran KS, Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM, Watkins N; Wellcome Trust Case Control Consortium, Witteman JC, Zeggini E, Zhai G, Zillikens MC, Altshuler D, Caulfield MJ, Chanock SJ, Farooqi IS, Ferrucci L, Guralnik JM, Hattersley AT, Hu FB, Jarvelin MR, Laakso M, Mooser V, Ong KK, Ouwehand WH, Salomaa V, Samani NJ, Spector TD, Tuomi T, Tuomilehto J, Uda M, Uitterlinden AG, Wareham NJ, Deloukas P, Frayling TM, Groop LC, Hayes RB, Hunter DJ, Mohlke KL, Peltonen L, Schlessinger D, Strachan DP, Wichmann HE, McCarthy MI, Boehnke M, Barroso I, Abecasis GR, Hirschhorn JN; Genetic Investigation of ANthropometric Traits Consortium.

Nat Genet. 2009 Jan;41(1):25-34. Epub 2008 Dec 14.

PMID: 19079261 [PubMed - indexed for MEDLINE]

397.

Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.

Timpson NJ, Lindgren CM, Weedon MN, Randall J, Ouwehand WH, Strachan DP, Rayner NW, Walker M, Hitman GA, Doney AS, Palmer CN, Morris AD, Hattersley AT, Zeggini E, Frayling TM, McCarthy MI.

Diabetes. 2009 Feb;58(2):505-10. Epub 2008 Dec 3.

PMID: 19056611 [PubMed - indexed for MEDLINE]

396.

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.

Klupa T, Kowalska I, Wyka K, Skupien J, Patch AM, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, Sieradzki J, Mlynarski W, Malecki MT.

Clin Endocrinol (Oxf). 2009 Sep;71(3):358-62. Epub 2008 Nov 18.

PMID: 19021632 [PubMed - indexed for MEDLINE]

395.

The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits.

Webster RJ, Warrington NM, Weedon MN, Hattersley AT, McCaskie PA, Beilby JP, Palmer LJ, Frayling TM.

Diabetologia. 2009 Jan;52(1):106-14. Epub 2008 Nov 19.

PMID: 19018513 [PubMed - indexed for MEDLINE]

394.

Cigarette smoking during pregnancy is associated with alterations in maternal and fetal thyroid function.

Shields B, Hill A, Bilous M, Knight B, Hattersley AT, Bilous RW, Vaidya B.

J Clin Endocrinol Metab. 2009 Feb;94(2):570-4. Epub 2008 Nov 18.

PMID: 19017761 [PubMed - indexed for MEDLINE]

393.

FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians.

Yajnik CS, Janipalli CS, Bhaskar S, Kulkarni SR, Freathy RM, Prakash S, Mani KR, Weedon MN, Kale SD, Deshpande J, Krishnaveni GV, Veena SR, Fall CH, McCarthy MI, Frayling TM, Hattersley AT, Chandak GR.

Diabetologia. 2009 Feb;52(2):247-52. Epub 2008 Nov 13.

PMID: 19005641 [PubMed - indexed for MEDLINE]

392.

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

Gloyn AL, van de Bunt M, Stratton IM, Lonie L, Tucker L, Ellard S, Holman RR.

Diabetologia. 2009 Jan;52(1):172-4. Epub 2008 Nov 11. No abstract available.

PMID: 19002431 [PubMed - indexed for MEDLINE]

391.

Identification of mutations in the Kir6.2 subunit of the K(ATP) channel.

Flanagan SE, Ellard S.

Methods Mol Biol. 2008;491:235-45.

PMID: 18998097 [PubMed - indexed for MEDLINE]

390.

Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.

Ahamed A, Unnikrishnan AG, Pendsey SS, Nampoothiri S, Bhavani N, Praveen VP, Kumar H, Jayakumar RV, Nair V, Ellard S, Edghill EL.

JOP. 2008 Nov 3;9(6):715-8.

PMID: 18981553 [PubMed - indexed for MEDLINE]

389.

Glucokinase, the pancreatic glucose sensor, is not the gut glucose sensor.

Murphy R, Tura A, Clark PM, Holst JJ, Mari A, Hattersley AT.

Diabetologia. 2009 Jan;52(1):154-9. Epub 2008 Oct 31.

PMID: 18974968 [PubMed - indexed for MEDLINE]

388.

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.

Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, Li M, Derohannessian S, de Bakker PI, Bailey SD, Montpetit A, Edmondson AC, Taylor K, Gai X, Wang SS, Fornage M, Shaikh T, Groop L, Boehnke M, Hall AS, Hattersley AT, Frackelton E, Patterson N, Chiang CW, Kim CE, Fabsitz RR, Ouwehand W, Price AL, Munroe P, Caulfield M, Drake T, Boerwinkle E, Reich D, Whitehead AS, Cappola TP, Samani NJ, Lusis AJ, Schadt E, Wilson JG, Koenig W, McCarthy MI, Kathiresan S, Gabriel SB, Hakonarson H, Anand SS, Reilly M, Engert JC, Nickerson DA, Rader DJ, Hirschhorn JN, Fitzgerald GA.

PLoS One. 2008;3(10):e3583. Epub 2008 Oct 31.

PMID: 18974833 [PubMed - indexed for MEDLINE]

387.

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes.

McCarthy MI, Hattersley AT.

Diabetes. 2008 Nov;57(11):2889-98. No abstract available.

PMID: 18971436 [PubMed - indexed for MEDLINE]

386.

Reaching new heights: insights into the genetics of human stature.

Weedon MN, Frayling TM.

Trends Genet. 2008 Dec;24(12):595-603. Epub 2008 Oct 22. Review.

PMID: 18950892 [PubMed - indexed for MEDLINE]

385.

Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

Yuan X, Waterworth D, Perry JR, Lim N, Song K, Chambers JC, Zhang W, Vollenweider P, Stirnadel H, Johnson T, Bergmann S, Beckmann ND, Li Y, Ferrucci L, Melzer D, Hernandez D, Singleton A, Scott J, Elliott P, Waeber G, Cardon L, Frayling TM, Kooner JS, Mooser V.

Am J Hum Genet. 2008 Oct;83(4):520-8.

PMID: 18940312 [PubMed - indexed for MEDLINE]

384.

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.

Rubio-Cabezas O, Minton JA, Caswell R, Shield JP, Deiss D, Sumnik Z, Cayssials A, Herr M, Loew A, Lewis V, Ellard S, Hattersley AT.

Diabetes Care. 2009 Jan;32(1):111-6. Epub 2008 Oct 17.

PMID: 18931102 [PubMed - in process]

383.

Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

Rafiq S, Melzer D, Weedon MN, Lango H, Saxena R, Scott LJ; DIAGRAM Consortium, Palmer CN, Morris AD, McCarthy MI, Ferrucci L, Hattersley AT, Zeggini E, Frayling TM.

Diabetologia. 2008 Dec;51(12):2205-13. Epub 2008 Oct 14.

PMID: 18853133 [PubMed - indexed for MEDLINE]

382.

Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older people.

Cluett C, Brayne C, Clarke R, Evans G, Matthews F, Rubinsztein DC, Huppert F, Llewellyn DJ, Rice N, Henley W, Frayling TM, Murray A, Melzer D.

Neurobiol Aging. 2010 Sep;31(9):1563-8. Epub 2008 Oct 9.

PMID: 18848371 [PubMed - indexed for MEDLINE]

381.

The fat mass- and obesity-associated locus and dietary intake in children.

Timpson NJ, Emmett PM, Frayling TM, Rogers I, Hattersley AT, McCarthy MI, Davey Smith G.

Am J Clin Nutr. 2008 Oct;88(4):971-8.

PMID: 18842783 [PubMed - indexed for MEDLINE]

380.

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S.

Hum Mutat. 2009 Feb;30(2):170-80. Review.

PMID: 18767144 [PubMed - indexed for MEDLINE]

 

 

379: Frayling TM, Colhoun H, Florez JC.

A genetic link between type 2 diabetes and prostate cancer. Diabetologia. 2008 Oct;51(10):1757-60. Epub 2008 Aug 12. PMID: 18696045

378: Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S.

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2008 Sep 2. [Epub ahead of print] PMID: 18767144

377: Rice NE, Patel BD, Lang IA, Kumari M, Frayling TM, Murray A, Melzer D.

Filaggrin gene mutations are associated with asthma and eczema in later life. J Allergy Clin Immunol. 2008 Aug 28. [Epub ahead of print] No abstract available. PMID: 18760831

376: Barroso I, Luan J, Wheeler E, Whittaker P, Wasson J, Zeggini E, Weedon MN, Hunt S, Venkatesh R, Frayling TM, Delgado M, Neuman RJ, Zhao J, Sherva R, Glaser B, Walker M, Hitman G, McCarthy MI, Hattersley AT, Permutt MA, Wareham NJ, Deloukas P.

Population-specific risk of type 2 diabetes (T2D) conferred by HNF4A P2 promoter variants: a lesson for replication studies. Diabetes. 2008 Aug 26. [Epub ahead of print] PMID: 18728231

375: Murphy R, Baptista J, Holly J, Umpleby AM, Ellard S, Harries LW, Crolla J, Cundy T, Hattersley AT.

SEVERE INTRAUTERINE GROWTH RETARDATION AND ATYPICAL DIABETES ASSOCIATED WITH A TRANSLOCATION BREAKPOINT DISRUPTING REGULATION OF THE INSULIN-LIKE GROWTH FACTOR 2 GENE. J Clin Endocrinol Metab. 2008 Aug 26. [Epub ahead of print] PMID: 18728168

374: Pascoe L, Frayling TM, Weedon MN, Mari A, Tura A, Ferrannini E, Walker M; on behalf of the RISC Consortium.

Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk alleles. Diabetologia. 2008 Aug 22. [Epub ahead of print] PMID: 18719881

373: Engelmann G, Meyburg J, Shahbek N, Al-Ali M, Hairetis MH, Baker AJ, Rodenburg RJ, Wenning D, Flechtenmacher C, Ellard S, Smeitink JA, Hoffmann GF, Buchanan CR.

Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. J Inherit Metab Dis. 2008 Aug;31(4):540-6. Epub 2008 Aug 16. PMID: 18704764

372: Owens M, Stals K, Ellard S, Vaidya B.

Germline mutations in the CDKN1B gene encoding p27(Kip1) are a rare cause of Multiple Endocrine Neoplasia type 1. Clin Endocrinol (Oxf). 2008 Jul 31. [Epub ahead of print] No abstract available. PMID: 18673462

371: Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK.

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet. 2008 Aug;40(8):949-51. Epub 2008 Jul 11. PMID: 18622393

370: Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC.

Human CHN1 Mutations Hyperactivate {alpha}2-Chimaerin and Cause Duane's Retraction Syndrome. Science. 2008 Jul 24. [Epub ahead of print] PMID: 18653847

369: Perry JR, Frayling TM

New gene variants alter type 2 diabetes risk predominantly through reduced beta-cell function. Curr Opin Clin Nutr Metab Care. 2008 Jul;11(4):371-7. PMID: 18541994

368: Turkkahraman D, Bircan I, Tribble ND, Akçurin S, Ellard S, Gloyn AL.

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. J Pediatr. 2008 Jul;153(1):122-6. Epub 2008 Mar 6. PMID: 18571549

367: Lango H; The UK Type 2 Diabetes Genetics Consortium, Palmer CN, Morris AD, Zeggini E, Hattersley AT, McCarthy MI, Frayling TM, Weedon MN

Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes. 2008 Jun 30. [Epub ahead of print] PMID: 18591388

366: Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S.

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A. 2008 Jun 15;146A(12):1530-42. PMID: 18478590

365: Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, Ashcroft FM, Klimes I.

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes. Diabetes Care. 2008 Jun 12. [Epub ahead of print] PMID: 18556340

364: Thomas CP, Erlandson JC, Edghill EL, Hattersley AT, Stolpen AH.

A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes. Kidney Int. 2008 Jun 4. [Epub ahead of print] No abstract available. PMID: 18528323

363: Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O.

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008 Jun;82(6):1334-41. Epub 2008 May 15. PMID: 18485326

362: Shepherd M.

Our evolving understanding of monogenic diabetes: possibilities of improving glycaemic control following transfer from insulin to sulphonylureas. Prim Care Diabetes. 2008 Jun;2(2):87-90. Epub 2008 Apr 18. No abstract available. PMID: 18684428

361: Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI; Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GD, Day I, Dina C, De S, Dermitzakis ET, Doney AS, Elliott KS, Elliott P, Evans DM, Sadaf Farooqi I, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM; KORA, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Herrera B, Hinney A, Hunt SE, Jarvelin MR, Johnson T, Jolley JD, Karpe F, Keniry A, Khaw KT, Luben RN, Mangino M, Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O'Rahilly S, Owen KR, Palmer CN, Papadakis K, Potter S, Pouta A, Qi L; Nurses' Health Study, Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA, Song K, Soranzo N, Speliotes EK; Diabetes Genetics Initiative, Syddall HE, Teichmann SA, Timpson NJ, Tobias JH, Uda M; SardiNIA Study, Vogel CI, Wallace C, Waterworth DM, Weedon MN; Wellcome Trust Case Control Consortium, Willer CJ; FUSION, Wraight, Yuan X, Zeggini E, Hirschhorn JN, Strachan DP, Ouwehand WH, Caulfield MJ, Samani NJ, Frayling TM, Vollenweider P, Waeber G, Mooser V, Deloukas P, McCarthy MI, Wareham NJ, Barroso I, Jacobs KB, Chanock SJ, Hayes RB, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Kraft P, Hankinson SE, Hunter DJ, Hu FB, Lyon HN, Voight BF, Ridderstrale M, Groop L, Scheet P, Sanna S, Abecasis GR, Albai G, Nagaraja R, Schlessinger D, Jackson AU, Tuomilehto J, Collins FS, Boehnke M, Mohlke KL.

Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet. 2008 Jun;40(6):768-75. Epub 2008 May 4. PMID: 18454148

360: Fisher SA, Tremelling M, Anderson CA, Gwilliam R, Bumpstead S, Prescott NJ, Nimmo ER, Massey D, Berzuini C, Johnson C, Barrett JC, Cummings FR, Drummond H, Lees CW, Onnie CM, Hanson CE, Blaszczyk K, Inouye M, Ewels P, Ravindrarajah R, Keniry A, Hunt S, Carter M, Watkins N, Ouwehand W, Lewis CM, Cardon L; Wellcome Trust Case Control Consortium, Lobo A, Forbes A, Sanderson J, Jewell DP, Mansfield JC, Deloukas P, Mathew CG, Parkes M, Satsangi J.

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet. 2008 Jun;40(6):710-2. Epub 2008 Apr 27. PMID: 18438406

359: Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow Y.

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A. 2008 May 29;146A(13):1713-1717. [Epub ahead of print] PMID: 18512226

358: de Wet H, Proks P, Lafond M, Aittoniemi J, Sansom MS, Flanagan SE, Pearson ER, Hattersley AT, Ashcroft FM.

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. EMBO Rep. 2008 May 23. [Epub ahead of print] PMID: 18497752

357: Panicker V, Cluett C, Shields B, Murray A, Parnell KS, Perry JR, Weedon MN, Singleton A, Hernandez D, Evans J, Durant C, Ferrucci L, Melzer D, Saravanan P, Visser TJ, Ceresini G, Hattersley AT, Vaidya B, Dayan CM, Frayling TM

A Common variation in Deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triidothyronine. J Clin Endocrinol Metab. 2008 May 20. [Epub ahead of print] PMID: 18492748

356: Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N, Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB, Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI, Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM, Singleton A, Ferrucci L.

A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet. 2008 May 9;4(5):e1000072. PMID: 18464913

355: Christesen H, Tribble N, Molven A, Siddiqui J, Sandal T, Brusgaard K, Ellard S, Njoelstad P, Alm J, Jacobsen B, Hussain K, Gloyn A.

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterization of a novel GCK mutation. Eur J Endocrinol. 2008 May 1. [Epub ahead of print] PMID: 18450771

354: Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JR, Stevens S, Hall AS, Samani NJ, Shields B, Prokopenko I, Farrall M, Dominiczak A; Diabetes Genetics Initiative; Wellcome Trust Case Control Consortium, Johnson T, Bergmann S, Beckmann JS, Vollenweider P, Waterworth DM, Mooser V, Palmer CN, Morris AD, Ouwehand WH; Cambridge GEM Consortium, Zhao JH, Li S, Loos RJ, Barroso I, Deloukas P, Sandhu MS, Wheeler E, Soranzo N, Inouye M, Wareham NJ, Caulfield M, Munroe PB, Hattersley AT, McCarthy MI, Frayling TM.

Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet. 2008 May;40(5):575-83. Epub 2008 Apr 6. PMID: 18391952

353: Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Boström KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, Burtt NP, Chen H, Chines PS, Daly MJ, Deodhar P, Ding CJ, Doney AS, Duren WL, Elliott KS, Erdos MR, Frayling TM, Freathy RM, Gianniny L, Grallert H, Grarup N, Groves CJ, Guiducci C, Hansen T, Herder C, Hitman GA, Hughes TE, Isomaa B, Jackson AU, Jørgensen T, Kong A, Kubalanza K, Kuruvilla FG, Kuusisto J, Langenberg C, Lango H, Lauritzen T, Li Y, Lindgren CM, Lyssenko V, Marvelle AF, Meisinger C, Midthjell K, Mohlke KL, Morken MA, Morris AD, Narisu N, Nilsson P, Owen KR, Palmer CN, Payne F, Perry JR, Pettersen E, Platou C, Prokopenko I, Qi L, Qin L, Rayner NW, Rees M, Roix JJ, Sandbaek A, Shields B, Sjögren M, Steinthorsdottir V, Stringham HM, Swift AJ, Thorleifsson G, Thorsteinsdottir U, Timpson NJ, Tuomi T, Tuomilehto J, Walker M, Watanabe RM, Weedon MN, Willer CJ; Wellcome Trust Case Control Consortium, Illig T, Hveem K, Hu FB, Laakso M, Stefansson K, Pedersen O, Wareham NJ, Barroso I, Hattersley AT, Collins FS, Groop L, McCarthy MI, Boehnke M, Altshuler D.

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet. 2008 May;40(5):638-45. Epub 2008 Mar 30. PMID: 18372903

352: Tysoe C, Law CJ, Caswell R, Clayton P, Ellard S

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata. Prenat Diagn. 2008 May;28(5):384-8. PMID: 18395876

351: Dudziak K, Mottalebi N, Senkel S, Edghill EL, Rosengarten S, Roose M, Bingham C, Ellard S, Ryffel GU.

Transcription factor HNF1beta and novel partners affect nephrogenesis. Kidney Int. 2008 Apr 16. [Epub ahead of print] PMID: 18418350

350: Harries LW, Sloman MJ, Sellers EA, Hattersley AT, Ellard S

DIABETES SUSCEPTIBILITY IN THE CANADIAN OJI-CREE POPULATION IS MODERATED BY ABNORMAL mRNA PROCESSING OF HNF1A G319S TRANSCRIPTS. Diabetes. 2008 Apr 14. [Epub ahead of print] PMID: 18411242

349: Ellard S, Bellanné-Chantelot C, Hattersley AT; European Molecular Genetics Quality Network (EMQN) MODY group.

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia. 2008 Apr;51(4):546-53. Epub 2008 Feb 23. PMID: 18297260

348: Murphy R, Ellard S, Hattersley AT.

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab. 2008 Apr;4(4):200-13. Epub 2008 Feb 26. PMID: 18301398

347: Harries LW, Locke JM, Shields B, Hanley NA, Piper Hanley K, Steele A, Njølstad PR, Ellard S, Hattersley AT.

The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes. 2008 Mar 20; [Epub ahead of print] PMID: 18356407

346: Freathy RM, Timpson NJ, Lawlor DA, Pouta A, Ben-Shlomo Y, Ruokonen A, Ebrahim S, Shields B, Zeggini E, Weedon MN, Lindgren CM, Lango H, Melzer D, Ferrucci L, Paolisso G, Neville MJ, Karpe F, Palmer CN, Morris AD, Elliott P, Jarvelin MR, Smith GD, McCarthy MI, Hattersley AT, Frayling TM.

Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected, given its effect on BMI. Diabetes. 2008 Mar 17; [Epub ahead of print] PMID: 18346983

345: Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM.

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications. Diabetologia. 2008 Mar 12; [Epub ahead of print] PMID: 18335204

344: Lawlor DA, Timpson NJ, Harbord RM, Leary S, Ness A, McCarthy MI, Frayling TM, Hattersley AT, Smith GD.

Exploring the Developmental Overnutrition Hypothesis Using Parental-Offspring Associations and FTO as an Instrumental Variable. PLoS Med. 2008 Mar 11;5(3):e33. PMID: 18336062

343: van de Bunt M, Edghill EL, Hussain K, Ellard S, Gloyn AL.

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans. Mol Genet Metab. 2008 Mar 4; [Epub ahead of print] No abstract available. PMID: 18325809

342: Slingerland AS, Hurkx W, Noordam K, Flanagan SE, Jukema JW, Meiners LC, Bruining GJ, Hattersley AT, Hadders-Algra M.

Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med. 2008 Mar;25(3):277-81. PMID: 18307455

341: Murphy R, Turnbull DM, Walker M, Hattersley AT.

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med. 2008 Feb 18; [Epub ahead of print] PMID: 18294221

340: Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K.

Persistent Hyperinsulinaemic Hypoglycaemia and Maturity Onset Diabetes of the Young (MODY) due to Heterozygous HNF4A Mutations. Diabetes. 2008 Feb 11; [Epub ahead of print] PMID: 18268044

339: Stratigopoulos G, Padilla S, Leduc CA, Watson E, Hattersley AT, McCarthy MI, Zeltser LM, Chung WK, Leibel RL.

Regulation of Fto/Ftm gene expression in mice and humans. Am J Physiol Regul Integr Comp Physiol. 2008 Feb 6; [Epub ahead of print] PMID: 18256137

338: Guan W, Pluzhnikov A, Cox NJ, Boehnke M; International Type 2 Diabetes Linkage Analysis Consortium.

Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium. Hum Hered. 2008;66(1):35-49. Epub 2007 Jan 28. PMID: 18223311

337: Shields BM, Spyer G, Slingerland AS, Knight BA, Ellard S, Clark PM, Mouzon SH, Hattersley AT.

Mutations in the glucokinase gene of the fetus result in reduced placental weight. Diabetes Care. 2008 Jan 9; [Epub ahead of print] PMID: 18184897

336: Akcurin S, Turkkahraman D, Tysoe C, Ellard S, De Leener A, Vassart G, Costagliola S.

A family with a novel TSH receptor activating germline mutation (p.Ala485Val). Eur J Pediatr. 2008 Jan 4; [Epub ahead of print] PMID: 18175146

335: Lango H, Weedon MN.

What will whole genome searches for susceptibility genes for common complex disease offer to clinical practice? J Intern Med. 2008 Jan;263(1):16-27. PMID: 18088250

334: Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, Macdonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; the Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

Insulin Mutation Screening in 1044 Patients with Diabetes: Mutations in the INS gene are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes Diagnosed in Childhood or Adulthood. Diabetes. 2007 Dec 27; [Epub ahead of print] PMID: 18162506

333: Gill-Carey O, Hattersley AT.

Genetics and type 2 diabetes in youth. Pediatr Diabetes. 2007 Dec;8 Suppl 9:42-7. PMID: 17991132

332: Wabitsch M, Lahr G, Van de Bunt M, Marchant C, Lindner M, von Puttkamer J, Fenneberg A, Debatin KM, Klein R, Ellard S, Clark A, Gloyn AL.

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy. Diabet Med. 2007 Dec;24(12):1393-9. Epub 2007 Nov 1. PMID: 17976205

331: Wabitsch M, Lahr G, Van de Bunt M, Marchant C, Lindner M, von Puttkamer J, Fenneberg A, Debatin KM, Klein R, Ellard S, Clark A, Gloyn AL.

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy. Diabet Med. 2007 Dec;24(12):1393-9. Epub 2007 Nov 1. PMID: 17976205

330: de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch AM, Flanagan SE, Ellard S, Hattersley AT, Sansom MS, Ashcroft FM.

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes Proc Natl Acad Sci U S A. 2007 Nov 27;104(48):18988-92. Epub 2007 Nov 19. PMID: 18025464

329: Rafiq M, Flanagan SE, Patch AM, Shields BM; Neonatal Diabetes International Collaborative Group, Ellard S, Hattersley AT.

Effective treatment with oral sulfonylureas in patients with diabetes due to SUR1 Mutations. Diabetes Care. 2007 Nov 19; [Epub ahead of print] PMID: 18025408

328: Nejentsev S, Howson JM, Walker NM, Szeszko J, Field SF, Stevens HE, Reynolds P, Hardy M, King E, Masters J, Hulme J, Maier LM, Smyth D, Bailey R, Cooper JD, Ribas G, Campbell RD, Clayton DG, Todd JA; The Wellcome Trust Case Control Consortium; Management committee, Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P; Analysis committee, Barrett JC, Burton PR, Davison D, Donnelly P, Easton D, Evans D, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Cardon LR, Clayton DG; UK blood services and University of Cambridge controls, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Todd JA, Ouwehand WH; 1958 birth cohort controls, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M; Bipolar disorder, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskvina V, Nikolov I, O'Donovan MC, Owen MJ, Craddock N, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Nicol Ferrier I; Coronary artery disease, Ball SG, Balmforth AJ, Barrett JH, Bishop DT, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Burton PR, Dixon RJ, Mangino M, Stevens S, Tobin MD, Thompson JR, Samani NJ; Crohn’s disease, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Mathew CG, Barbour J, Khalid Mohiuddin M, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP; Hypertension, Webster J, Brown MJ, Clayton DG, Lathrop GM, Connell J, Dominiczak A, Samani NJ, Braga CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M; Rheumatoid arthritis, Barton A; The Biologics in RA Genetics and Genomics Study Syndicate (BRAGGS) Steering Committee, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hider SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J; Type 1 diabetes, Clayton DG, Dunger DB, Nutland S, Stevens HE, Walker NM, Widmer B, Todd JA; Type 2 diabetes, Frayling TM, Freathy RM, Lango H, Perry JR, Shields BM, Weedon MN, Hattersley AT, Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, McCarthy MI; Tuberculosis, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AV; Ankylosing spondylitis, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA; Autoimmune thyroid disease, Franklyn JA, Heward JM, Simmonds MJ, Gough SC; Breast cancer, Seal S; Breast Cancer Susceptibility Collaboration (UK), Stratton MR, Rahman N; Multiple sclerosis, Ban M, Goris A, Sawcer SJ, Compston A; Gambian controls, Conway D, Jallow M, Newport M, Sirugo G, Rockett KA, Kwiatkowski DP; DNA, genotyping, data QC and informatics, Bryan C, Bumpstead SJ, Chaney A, Downes K, Ghori J, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Withers D, Deloukas P, Leung HT, Nutland S, Stevens HE, Walker NM, Todd JA; Statistics, Easton D, Clayton DG, Burton PR, Tobin MD, Barrett JC, Evans D, Morris AP, Cardon LR, Cardin NJ, Davison D, Ferreira T, Pereira-Gale J, Hallgrimsdóttir IB, Howie BN, Marchini JL, Spencer CC, Su Z, Ying Teo Y, Vukcevic D, Donnelly P; Primary investigators, Bentley D, Brown MA, Cardon LR, Caulfield M, Clayton DG, Compston A, Craddock N, Deloukas P, Donnelly P, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Kwiatkowski DP, Mathew CG, McCarthy MI, Ouwehand WH, Parkes M, Pembrey M, Rahman N, Samani NJ, Stratton MR, Todd JA, Worthington J.

Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature. 2007 Nov 14; [Epub ahead of print] PMID: 18004301

327: Patch AM, Flanagan SE, Boustred C, Hattersley AT, Ellard S.

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. Diabetes Obes Metab. 2007 Nov;9 Suppl 2:28-39. PMID: 17919176

326: Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C.

Hepatocyte nuclear factor-1{beta} gene deletions a common cause of renal disease. Nephrol Dial Transplant. 2007 Oct 30; [Epub ahead of print] PMID: 17971380

325: Wellcome Trust Case Control Consortium, Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly Chair P; Analysis Committee:, Barrett JC, Burton PR, Davison D, Donnelly P, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Cardon LR, Clayton DG; UK Blood Services & University of Cambridge Controls:, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Todd JA, Ouwehand WH; 1958 Birth Cohort Controls:, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M; Bipolar Disorder (Aberdeen):, Breen G, Clair DS; (Birmingham):, Caesar S, Gordon-Smith K, Jones L; (Cardiff):, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O'Donovan MC, Owen MJ, Craddock N; (London):, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P; (Newcastle):, Young AH, Ferrier IN; Coronary Artery Disease (Leeds):, Ball SG, Balmforth AJ, Barrett JH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS; (Leicester):, Braund PS, Burton PR, Dixon RJ, Mangino M, Stevens S, Tobin MD, Thompson JR, Samani NJ; Crohn's Disease (Cambridge):, Bredin F, Tremelling M, Parkes M; (Edinburgh):, Drummond H, Lees CW, Nimmo ER, Satsangi J; (London):, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Matthew CG; (Newcastle):, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC; (Oxford):, Ahmad T, Cummings FR, Jewell DP; Hypertension (Aberdeen):, Webster J; (Cambridge):, Brown MJ, Clayton DG; (Evry, France):, Lathrop MG; (Glasgow):, Connell J, Dominiczak A; (Leicester):, Samani NJ; (London):, Marcano CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M; (Oxford):, Farrall M; Rheumatoid Arthritis:, Barton A; The Biologics in RA Genetics and Genomics Study Syndicate (BRAGGS) Steering Committee*,, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hilder SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J; Type 1 Diabetes:, Clayton DG, Dunger DB, Nutland S, Stevens HE, Walker NM, Widmer B, Todd JA; Type 2 Diabetes (Exeter):, Frayling TM, Freathy RM, Lango H, Perry JR, Shields BM, Weedon MN, Hattersley AT; (London):, Hitman GA; (Newcastle):, Walker M; (Oxford):, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, McCarthy MI; Tuberculosis (Gambia):, Newport M, Sirugo G; (Oxford):, Lyons E, Vannberg F, Hill AV; Ankylosing Spondylitis:, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA; Autoimmune Thyroid Disease:, Franklyn JA, Heward JM, Simmonds MJ, Gough SC; Breast Cancer:, Seal S; Breast Cancer Susceptibility Collaboration (UK)*,, Stratton MR, Rahman N; Multiple Sclerosis:, Ban M, Goris A, Sawcer SJ, Compston A; Gambian Controls (Gambia):, Conway D, Jallow M, Newport M, Sirugo G; (Oxford):, Rockett KA, Kwiatkowski DP; DNA, Genotyping, Data QC and Informatics (Wellcome Trust Sanger Institute, Hinxton):, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Deloukas P; (Cambridge):, Leung HT, Nutland S, Stevens HE, Walker NM, Todd JA; Statistics (Cambridge):, Easton D, Clayton DG; (Leicester):, Burton PR, Tobin MD; (Oxford):, Barrett JC, Evans DM, Morris AP, Cardon LR; (Oxford):, Cardin NJ, Davison D, Ferreira T, Pereira-Gale J, Hallgrimsdottir IB, Howie BN, Marchini JL, Spencer CC, Su Z, Teo YY, Vukcevic D, Donnelly P; Principal Investigators:, Bentley D, Brown MA, Cardon LR, Caulfield M, Clayton DG, Compston A, Craddock N, Deloukas P, Donnelly P, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Kwiatkowski DP, Matthew CG, McCarthy MI, Ouwehand WH, Parkes M, Pembrey M, Rahman N, Samani NJ, Stratton MR, Todd JA, Worthington J; AITD Replication Group:, Mitchell SL, Newby PR, Brand OJ, Carr-Smith J, Pearce SH, Gough SC; IL23R replication:, McGinnis R, Keniry A, Deloukas P; The Australo-Anglo-American Spondylitis Consortium (TASC), Reveille JD, Zhou X, Bradbury LA, Sims AM, Dowling A, Taylor J, Doan T, Cardon LR, Davis JC, Pointon JJ, Savage L, Ward MM, Learch TL, Weisman MH, Wordsworth P, Brown MA.

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007 Oct 21; [Epub ahead of print] PMID: 17952073

324: Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S.

An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes. 2007 Oct 17; [Epub ahead of print] PMID: 17942822

323: Shield JP, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S.

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy. Diabetes. 2007 Oct 17; [Epub ahead of print] PMID: 17942821

322: Frayling TM.

Commentary: Genetic association studies see light at the end of the tunnel. Int J Epidemiol. 2007 Oct 5; [Epub ahead of print] No abstract available. PMID: 17921192

321: Frayling TM, McCarthy MI.

Genetic studies of diabetes following the advent of the genome-wide association study: where do we go from here? Diabetologia. 2007 Nov;50(11):2229-33. No abstract available. PMID: 17909877

320: Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H, Pedersen O, Shepherd MH, Hansen T, Harries LW, Hattersley AT.

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia. 2007 Nov;50(11):2313-7. Epub 2007 Sep 8. PMID: 17828387

319: De Silva NM, Steele A, Shields B, Knight B, Parnell K, Weedon MN, Hattersley AT, Frayling TM.

The transcription factor 7-like 2 (TCF7L2) gene is associated with Type 2 diabetes in UK community-based cases, but the risk allele frequency is reduced compared with UK cases selected for genetic studies. Diabet Med. 2007 Oct;24(10):1067-72. Epub 2007 Aug 24. PMID: 17725629

318: Weedon MN.

The importance of TCF7L2. Diabet Med. 2007 Oct;24(10):1062-6. Review PMID: 17888129

317: Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JR, Elliott KS, Hackett R, Guiducci C, Shields B, Zeggini E, Lango H, Lyssenko V, Timpson NJ, Burtt NP, Rayner NW, Saxena R, Ardlie K, Tobias JH, Ness AR, Ring SM, Palmer CN, Morris AD, Peltonen L, Salomaa V; The Diabetes Genetics Initiative; The Wellcome Trust Case Control Consortium, Smith GD, Groop LC, Hattersley AT, McCarthy MI, Hirschhorn JN, Frayling TM.

A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet. 2007 Oct;39(10):1245-1250. Epub 2007 Sep 2. PMID: 17767157

316: Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group.

Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. Epub 2007 Sep 12. PMID: 17855560

315: Owens M, Ellard S, Vaidya B.

Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf). 2007 Sep 14; [Epub ahead of print] PMID: 17854391

314: Pascoe L, Tura A, Patel SK, Ibrahim IM, Ferrannini E; The RISC Consortium; The UK Type 2 Diabetes Genetics Consortium, Zeggini E, Weedon MN, Mari A, Hattersley AT, McCarthy MI, Frayling TM, Walker M.

Common variants of the novel type 2 diabetes genes, CDKAL1 and HHEX/IDE, are associated with decreased pancreatic {beta}-cell function. Diabetes. 2007 Sep 5; [Epub ahead of print] PMID: 17804762

313: Hattersley AT.

Prime suspect: the TCF7L2 gene and type 2 diabetes risk. J Clin Invest. 2007 Aug;117(8):2077-9. PMID: 17671643

312: Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM.

Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects. Am J Hum Genet. 2007 Aug;81(2):375-82. Epub 2007 Jun 29. PMID: 17668386

311: Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann RJ, Sherva R, Blech I, Pharoah PD, Palmer CN, Kimber C, Tavendale R, Morris AD, McCarthy MI, Walker M, Hitman G, Glaser B, Permutt MA, Hattersley AT, Wareham NJ, Barroso I.

Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet. 2007 Aug;39(8):951-953. Epub 2007 Jul 1. PMID: 17603484

310: Rafiq S, Frayling TM, Murray A, Hurst A, Stevens K, Weedon MN, Henley W, Ferrucci L, Bandinelli S, Corsi AM, Guralnik JM, Melzer D.

A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects. Genes Immun. 2007 Aug 2; [Epub ahead of print] PMID: 17671508

309: Shimomura K, Horster F, Wet HD, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F.

A novel mutation causing DEND syndrome. Neurology. 2007 Jul 25; [Epub ahead of print] PMID: 17652641

308: Minton JA, van de Bunt M, Boustred C, Hussain K, Hattersley AT, Ellard S, Gloyn AL.

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction. Diabetologia. 2007 Jul 6; [Epub ahead of print] No abstract available. PMID: 17618412

307: Singh R, Edghill E, Bingham C, Ellard S, Hattersley AT, Harries LW.

Low prevalence of mitochondrial DNA 3243A>G point mutation in Caucasians with unexplained renal disease. Diabet Med. 2007 Jul;24(7):804-6. No abstract available. PMID: 17596244

306: Frayling TM.

A new era in finding Type 2 diabetes genes-the unusual suspects. Diabet Med. 2007 Jul;24(7):696-701. Epub 2007 Jun 11. PMID: 17561964

305: Singh R, Hattersley AT, Harries LW.

Reduced peripheral blood mitochondrial DNA content is not a risk factor for Type 2 diabetes. Diabet Med. 2007 Jul;24(7):784-7. Epub 2007 May 29. PMID: 17535293

304: Saukko PM, Ellard S, Richards SH, Shepherd MH, Campbell JL.

Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia. BMC Health Serv Res. 2007 Jun 12;7(1):82 [Epub ahead of print] PMID: 17565670

303: Chinnery PF, Mowbray C, Patel SK, Elson JL, Sampson M, Hitman GA, McCarthy MI, Hattersley AT, Walker M.

Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls. J Med Genet. 2007 Jun;44(6):e80. PMID: 17551080

302: Freathy RM, Weedon MN, Bennett A, Hypponen E, Relton CL, Knight B, Shields B, Parnell KS, Groves CJ, Ring SM, Pembrey ME, Ben-Shlomo Y, Strachan DP, Power C, Jarvelin MR, McCarthy MI, Davey Smith G, Hattersley AT, Frayling TM.

Type 2 Diabetes TCF7L2 Risk Genotypes Alter Birth Weight: A Study of 24,053 Individuals. Am J Hum Genet. 2007 Jun;80(6):1150-61. Epub 2007 Apr 23. PMID: 17503332

301: Pearson ER, Donnelly LA, Kimber C, Whitley A, Doney AS, McCarthy MI, Hattersley AT, Morris AD, Palmer CN.

Variation in TCF7L2 influences therapeutic response to sulfonylureas: A GoDARTs study. Diabetes. 2007 May 22; [Epub ahead of print] PMID: 17519421

300: Shields BM, Knight B, Hopper H, Hill A, Powell RJ, Hattersley AT, Clark PM.

Measurement of cord insulin and insulin related peptides suggests females are more insulin resistant than males at birth. Diabetes Care. 2007 May 2; [Epub ahead of print] PMID: 17475939

299: Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney AS, McCarthy MI, Hattersley AT.

Replication of Genome-Wide Association Signals in U.K. Samples Reveals Risk Loci for Type 2 Diabetes. Science. 2007 Apr 26; [Epub ahead of print] PMID: 17463249 ~

298: Melzer D, Frayling TM, Murray A, Hurst AJ, Harries LW, Song H, Khaw K, Luben R, Surtees PG, Bandinelli SS, Corsi AM, Ferrucci L, Guralnik JM, Wallace RB, Hattersley AT, Pharoah PD.

A common variant of the p16(INK4a) genetic region is associated with physical function in older people. Mech Ageing Dev. 2007 Mar 27; [Epub ahead of print] PMID: 17459456

297: Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet. 2007 May 18;8(1):26 [Epub ahead of print] PMID: 17511870

296: Jenkins D, Bitner-Glindzicz M, Thomasson L, Malcolm S, Warne SA, Feather SA, Flanagan SE, Ellard S, Bingham C, Santos L, Henkemeyer M, Zinn A, Baker LA, Wilcox DT, Woolf AS.

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. J Pediatr Urol. 2007 Feb;3(1):2-9. PMID: 17476318

295: Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT.

Mutations in KATP Channel Genes cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood. Diabetes. 2007 Apr 19; [Epub ahead of print] PMID: 17446535

294: Rafiq S, Stevens K, Hurst AJ, Murray A, Henley W, Weedon MN, Bandinelli S, Corsi AM, Guralnik JM, Ferruci L, Melzer D, Frayling TM.

Common genetic variation in the gene encoding interleukin-1-receptor antagonist (IL-1RA) is associated with altered circulating IL-1RA levels. Genes Immun. 2007 Apr 19; [Epub ahead of print] PMID: 17443229

293: .Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JR, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch AM, Ness AR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin MR, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJ, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CN, Doney AS, Morris AD, Davey-Smith G; The Wellcome Trust Case Control Consortium; Hattersley AT, McCarthy MI.

A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity. Science. 2007 Apr 12; [Epub ahead of print] PMID: 17434869

292: .Kimber CH, Doney AS, Pearson ER, McCarthy MI, Hattersley AT, Leese GP, Morris AD, Palmer CN.

TCF7L2 in the Go-DARTS study: evidence for a gene dose effect on both diabetes susceptibility and control of glucose levels. Diabetologia. 2007 Apr 11; [Epub ahead of print] PMID: 17429603

291: .Meirhaeghe A, Sandhu MS, McCarthy MI, de Groote P, Cottel D, Arveiler D, Ferrieres J, Groves CJ, Hattersley AT, Hitman GA, Walker M, Wareham NJ, Amouyel P.

Association between the T-381C polymorphism of the Brain Natriuretic Peptide gene and risk of type 2 diabetes in human populations. Hum Mol Genet. 2007 Apr 5; [Epub ahead of print] PMID: 17412758

290: Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT.

Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene. PLoS Med. 2007 Apr 3;4(4):e118 [Epub ahead of print] PMID: 17407387

289: .Gueorguiev M, Wiltshire S, Garcia EA, Mein C, Lecoeur C, Kristen B, Allotey R, Hattersley AT, Walker M, O'rahilly S, Froguel P, Grossman AB, McCarthy MI, Hitman GA, Korbonits M.

Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a UK population with type 2 diabetes. J Clin Endocrinol Metab. 2007 Mar 27; [Epub ahead of print] PMID: 17389697

288: .Codner E, Flanagan SE, Ugarte F, Garcia H, Vidal T, Ellard S, Hattersley AT.

Sulfonylurea Treatment in Young Children with Neonatal Diabetes: Dealing with Hyperglycaemia, Hypoglycaemia and Sickdays. Diabetes Care. 2007 Mar 2; [Epub ahead of print] No abstract available. PMID: 17337505

287: Owen KR, Groves CJ, Hanson RL, Knowler WC, Shuldiner AR, Elbein SC, Mitchell BD, Froguel P, Ng MC, Chan JC, Jia W, Deloukas P, Hitman GA, Walker M, Frayling TM, Hattersley AT, Zeggini E, McCarthy MI.

Common Variation in the LMNA Gene (Encoding Lamin A/C) and Type 2 Diabetes: Association Analyses in 9,518 Subjects. Diabetes. 2007 Mar;56(3):879-83. PMID: 17327460

286: Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Bostrom KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, Daly MJ, Frayling TM, Groop L, Altshuler D.

Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes. Diabetes. 2007 Mar;56(3):685-93. PMID: 17327436

285: Edghill EL, Gloyn AL, Goriely A, Harries LW, Flanagan SE, Rankin J, Hattersley AT, Ellard S.

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. J Clin Endocrinol Metab. 2007 Feb 27; [Epub ahead of print] PMID: 17327377

284: Singh R, Pearson ER, Clark PM, Hattersley AT.

The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations. Diabetologia. 2007 Mar;50(3):620-4. Epub 2007 Jan 10. PMID: 17216282

283: Wolstencroft EC, Hanlon K, Harries LW, Standen GR, Sternberg A, Ellard S.

Development of a Quantitative Real-Time Polymerase Chain Reaction Assay for the Detection of the JAK2 V617F Mutation. J Mol Diagn. 2007 Feb;9(1):42-6. PMID: 17251334

282: Frayling TM, Rafiq S, Murray A, Hurst AJ, Weedon MN, Henley W, Bandinelli S, Corsi AM, Ferrucci L, Guralnik JM, Wallace RB, Melzer D.

An interleukin-18 polymorphism is associated with reduced serum concentrations and better physical functioning in older people. J Gerontol A Biol Sci Med Sci. 2007 Jan;62(1):73-8. PMID: 17301041

281: Knight B, Shields BM, Hill A, Powell RJ, Wright D, Hattersley AT.

The impact of maternal glycemia and obesity on early postnatal growth in a non-diabetic Caucasian population. Diabetes Care. 2007 Jan 24; [Epub ahead of print] PMID: 17251277

280: Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I.

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab. 2007 Jan 9; [Epub ahead of print] PMID: 17213273

279: Desai M, Zeggini E, Horton VA, Owen KR, Hattersley AT, Levy JC, Walker M, Gillespie KM, Bingley PJ, Hitman GA, Holman RR, McCarthy MI, Clark A.

An association analysis of the HLA gene region in latent autoimmune diabetes in adults. Diabetologia. 2007 Jan;50(1):68-73. Epub 2006 Dec 2.PMID: 17143607

278: Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, Voss LD, Jeffery AN, Metcalf B, Ferrucci L, Corsi AM, Murray A, Melzer D, Knight B, Shields B, Smith GD, Hattersley AT, Di Rienzo A, Frayling TM.

A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. Am J Hum Genet. 2006 Dec;79(6):991-1001. Epub 2006 Oct 6. PMID: 17186458 [PubMed - in process]

277: Melzer D, Murray A, Hurst AJ, Weedon MN, Bandinelli S, Corsi AM, Ferrucci L, Paulisso G, Guralnik JM, Frayling TM.

Effects of the diabetes linked TCF7L2 polymorphism in a representative older population. BMC Med. 2006 Dec 20;4(1):34 [Epub ahead of print] PMID: 17181866

276: Slingerland AS.

Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient. Rev Endocr Metab Disord. 2006 Dec 22; [Epub ahead of print] PMID: 17186387

275: Edghill EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, Hattersley AT.

Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development. Diabet Med. 2006 Dec;23(12):1301-6. PMID: 17116179

274: Freathy RM, Mitchell SM, Knight B, Shields B, Weedon MN, Hattersley AT, Frayling TM.

A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population. J Negat Results Biomed. 2006 Nov 24;5:18. PMID: 17125497

273: Eller P, Kaser S, Lhotta K, Edghill EL, Ellard S, Ebenbichler C, Patsch JR.

Renal cysts and diabetes due to a heterozygous HNF-1{beta} gene deletion. Nephrol Dial Transplant. 2006 Nov 24; [Epub ahead of print] No abstract available. PMID: 17127696

272: Chandak GR, Janipalli CS, Bhaskar S, Kulkarni SR, Mohankrishna P, Hattersley AT, Frayling TM, Yajnik CS.

Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population. Diabetologia. 2006 Nov 9; [Epub ahead of print] PMID: 17093941

271: Wiltshire S, Bell JT, Groves CJ, Dina C, Hattersley AT, Frayling TM, Walker M, Hitman GA, Vaxillaire M, Farrall M, Froguel P, McCarthy MI.

Epistasis between type 2 diabetes susceptibility Loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans. Ann Hum Genet. 2006 Nov;70(Pt 6):726-37. PMID: 17044847

270: Porter JR, Rangasami JJ, Ellard S, Gloyn AL, Shields BM, Edwards J, Anderson JM, Shaw NJ, Hattersley AT, Frayling TM, Plunkett M, Barrett TG.

Asian MODY: are we missing an important diagnosis? Diabet Med. 2006 Nov;23(11):1257-60. PMID: 17054605

269: Stenhouse E, Wright DE, Hattersley AT, Millward BA.

Maternal glucose levels influence birthweight and 'catch-up' and 'catch-down' growth in a large contemporary cohort. Diabet Med. 2006 Nov;23(11):1207-12. PMID: 17054596

268: .Weedon MN, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM.

No Evidence of Association of ENPP1 Variants With Type 2 Diabetes or Obesity in a Study of 8,089 U.K. Caucasians. Diabetes. 2006 Nov;55(11):3175-9. PMID: 17065358

267: Tarasov AI, Welters HJ, Senkel S, Ryffel GU, Hattersley AT, Morgan NG, Ashcroft FM.

A Kir6.2 Mutation Causing Neonatal Diabetes Impairs Electrical Activity and Insulin Secretion From INS-1 {beta}-Cells. Diabetes. 2006 Nov;55(11):3075-82. PMID: 17065345

266: Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ.

Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Diabetologia. 2006 Nov;49(11):2559-63. Epub 2006 Sep 19. PMID: 17047922

265: Chandak GR, Ward KJ, Yajnik CS, Pandit AN, Bavdekar A, Joglekar CV, Fall CH, Mohankrishna P, Wilkin TJ, Metcalf BS, Weedon MN, Frayling TM, Hattersley AT.

Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans. BMC Med Genet. 2006 Oct 10;7:76. PMID: 17032446

264: Vaidya B, Anthony S, Bilous M, Shields B, Drury J, Hutchison S, Bilous R.

Detection of thyroid dysfunction in early pregnancy: Universal screening or targeted high-risk case finding? J Clin Endocrinol Metab. 2006 Oct 10; [Epub ahead of print] PMID: 17032713

263: Weedon MN, McCarthy MI, Hitman G, Walker M, Groves CJ, Zeggini E, Rayner NW, Shields B, Owen KR, Hattersley AT, Frayling TM.

Combining Information from Common Type 2 Diabetes Risk Polymorphisms Improves Disease Prediction. PLoS Med. 2006 Oct 3;3(10) [Epub ahead of print] PMID: 17020404

262: Rankin J, Ellard S.

The laminopathies: a clinical review. Clin Genet. 2006 Oct;70(4):261-74. PMID: 16965317

261: Kerecuk L, Sajoo A, McGregor L, Berg J, Haq MR, Sebire NJ, Bingham C, Edghill EL, Ellard S, Taylor J, Rigden S, Flinter FA, Woolf AS.

Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred. Nephrol Dial Transplant. 2006 Sep 23; [Epub ahead of print] No abstract available. PMID: 16998226

260: Knight B, Shields BM, Hill A, Powell RJ, Round A, Hamilton W, Hattersley AT.

Offspring birthweight is not associated with paternal insulin resistance. Diabetologia. 2006 Sep 5; [Epub ahead of print] PMID: 16953379

259: Groves CJ, Zeggini E, Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, McCarthy MI.

Association Analysis of 6,736 U.K. Subjects Provides Replication and Confirms TCF7L2 as a Type 2 Diabetes Susceptibility Gene With a Substantial Effect on Individual Risk. Diabetes. 2006 Sep;55(9):2640-4. PMID: 16936215

258: Zeggini E, Damcott CM, Hanson RL, Karim MA, Rayner NW, Groves CJ, Baier LJ, Hale TC, Hattersley AT, Hitman GA, Hunt SE, Knowler WC, Mitchell BD, Ng MC, O'connell JR, Pollin TI, Vaxillaire M, Walker M, Wang X, Whittaker P, Kunsun X, Jia W, Chan JC, Froguel P, Deloukas P, Shuldiner AR, Elbein SC, McCarthy MI.

Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. Diabetes. 2006 Sep;55(9):2541-8. PMID: 16936202

257: Gloyn AL, Ellard S.

Defining the genetic aetiology of monogenic diabetes can improve treatment. Expert Opin Pharmacother. 2006 Sep;7(13):1759-67. PMID: 16925503 [PubMed - in process]

256: Shields BM, Knight BA, Powell RJ, Hattersley AT, Wright DE.

Assessing newborn body composition using principal components analysis: differences in the determinants of fat and skeletal size. BMC Pediatr. 2006 Aug 17;6(1):24 [Epub ahead of print] PMID: 16916439

255: Freathy RM, Lonnen KF, Steele AM, Minton JA, Frayling TM, Hattersley AT, Macleod KM.

The impact of the Angiotensin-converting enzyme insertion/deletion polymorphism on severe hypoglycemia in type 2 diabetes. Rev Diabet Stud. 2006 Summer;3(2):76-81. Epub 2006 Aug 10. PMID: 17487330

254: Ellard S, Colclough K.

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat. 2006 Aug 17;27(9):854-869 [Epub ahead of print] PMID: 16917892

253: Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Sovik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group.

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med. 2006 Aug 3;355(5):467-77. PMID: 16885550

252: Wickham CL, Harries LW, Sarsfield P, Joyner MV, Ellard S.

Large variation in t(11;14)(q13;q32) and t(14;18)(q32;q21) translocation product size is confirmed by sequence analysis of PCR products. Clin Lab Haematol. 2006 Aug;28(4):248-53. PMID: 16898964

251: Castleden HA, Shields B, Bingley PJ, Williams AJ, Sampson M, Walker M, Gibson JM, McCarthy MI, Hitman GA, Levy JC, Hattersley AT, Vaidya B, Pearson ER.

GAD antibodies in probands and their relatives in a cohort clinically selected for Type 2 diabetes. Diabet Med. 2006 Aug;23(8):834-8. PMID: 16911619

250: Gloyn AL, Mackay DJ, Weedon MN, McCarthy MI, Walker M, Hitman G, Knight BA, Owen KR, Hattersley AT, Frayling TM.

Assessment of the Role of Common Genetic Variation in the Transient Neonatal Diabetes Mellitus (TNDM) Region in Type 2 Diabetes: A Comparative Genomic and Tagging Single Nucleotide Polymorphism Approach. Diabetes. 2006 Aug;55(8):2272-6. PMID: 16873690

249: Spyer G, Ellard S, Turnpenny PD, Hattersley AT, Vaidya B.

Phenotypic Multiple Endocrine Neoplasia Type 2B, Without Endocrinopathy or RET Gene Mutation: Implications for Management. Thyroid. 2006 Jun;16(6):605-8. PMID: 16839263

248: Welters HJ, Senkel S, Klein-Hitpass L, Erdmann S, Thomas H, Harries LW, Pearson ER, Bingham C, Hattersley AT, Ryffel GU, Morgan NG.

Conditional expression of hepatocyte nuclear factor-1{beta}, the maturity-onset diabetes of the young-5 gene product, influences the viability and functional competence of pancreatic {beta}-cells. J Endocrinol. 2006 Jul;190(1):171-81. PMID: 16837621

247: Tsuchiya T, Schwarz PE, Bosque-Plata LD, Geoffrey Hayes M, Dina C, Froguel P, Wayne Towers G, Fischer S, Temelkova-Kurktschiev T, Rietzsch H, Graessler J, Vcelak J, Palyzova D, Selisko T, Bendlova B, Schulze J, Julius U, Hanefeld M, Weedon MN, Evans JC, Frayling TM, Hattersley AT, Orho-Melander M, Groop L, Malecki MT, Hansen T, Pedersen O, Fingerlin TE, Boehnke M, Hanis CL, Cox NJ, Bell GI.

Association of the calpain-10 gene with type 2 diabetes in Europeans: Results of pooled and meta-analyses. Mol Genet Metab. 2006 Jul 10; [Epub ahead of print] PMID: 16837224

246: Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT.

Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet. 2006 Jul 15;15(14):2216-24. Epub 2006 Jun 7. PMID: 16760222

245: Freathy RM, Weedon MN, Melzer D, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM.

The functional KL-VS variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians. BMC Med Genet. 2006 Jun 5;7(1):51 [Epub ahead of print] PMID: 16753056

244: Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM.

HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months. Diabetes. 2006 Jun;55(6):1895-8. PMID: 16731860

243: Desai M, Zeggini E, Horton VA, Owen KR, Hattersley AT, Levy JC, Hitman GA, Walker M, Holman RR, McCarthy MI, Clark A.

The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults. Diabetes. 2006 Jun;55(6):1890-4. PMID: 16731859

242: Groves CJ, Zeggini E, Walker M, Hitman GA, Levy JC, O'rahilly S, Hattersley AT, McCarthy MI, Wiltshire S.

Significant Linkage of BMI to Chromosome 10p in the U.K. Population and Evaluation of GAD2 as a Positional Candidate. Diabetes. 2006 Jun;55(6):1884-9. PMID: 16731858

241: Shimomura K, Girard CA, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersely AT, Barbetti F, Ashcroft FM.

Mutations at the Same Residue (R50) of Kir6.2 (KCNJ11) That Cause Neonatal Diabetes Produce Different Functional Effects. Diabetes. 2006 Jun;55(6):1705-12. PMID: 16731833

240: Shields BM, Knight B, Turner M, Wilkins-Wall B, Shakespeare L, Powell RJ, Hannemann M, Clark PM, Yajnik CS, Hattersley AT.

Paternal insulin resistance and its association with umbilical cord insulin concentrations. Diabetologia. 2006 May 16; [Epub ahead of print] PMID: 16703330

239: Singh R, Pearson E, Avery PJ, McCarthy MI, Levy JC, Hitman GA, Sampson M, Walker M, Hattersley AT.

Reduced beta cell function in offspring of mothers with young-onset type 2 diabetes. Diabetologia. 2006 May 16; [Epub ahead of print] PMID: 16703328

238: Freathy RM, Weedon MN, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM.

Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population. JOP. 2006 May 9;7(3):295-302. PMID: 16685110

237: Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanne-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ.

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet. 2006 May 3; [Epub ahead of print] PMID: 16670688

236: Ward KJ, Ellard S, Yajnik CS, Frayling TM, Hattersley AT, Venigalla PN, Chandak GR.

Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene. Lipids Health Dis. 2006 May 2;5(1):11 [Epub ahead of print] PMID: 16670016

235: Singh R, Ellard S, Hattersley A, Harries LW.

Rapid and Sensitive Real-Time Polymerase Chain Reaction Method for Detection and Quantification of 3243A>G Mitochondrial Point Mutation. J Mol Diagn. 2006 May;8(2):225-30. PMID: 16645209

234: Slingerland AS, Hattersley AT.

Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth as well as causing neonatal diabetes. J Clin Endocrinol Metab. 2006 Apr 24; [Epub ahead of print] PMID: 16636122

233: Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S.

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet. 2006 Apr 13; [Epub ahead of print] PMID: 16613899

232: Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT.

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia. 2006 Apr 12; [Epub ahead of print] PMID: 16609879

231: Patel S, Minton JA, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG.

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population. Diabetologia. 2006 Apr 7; [Epub ahead of print] PMID: 16601972

230: Hattersley AT, Pearson ER.

Mini Review: Pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology and genetics in diabetes. Endocrinology. 2006 Mar 23; [Epub ahead of print] PMID: 16556760

229: Agius E, Attard G, Shakespeare L, Clark P, Vidya MA, Hattersley AT, Fava S.

Familial factors in diabetic nephropathy: an offspring study. Diabet Med. 2006 Mar;23(3):331-4. PMID: 16492220

228: Knight B, Shields BM, Hattersley AT.

The Exeter Family Study of Childhood Health (EFSOCH): study protocol and methodology. Paediatr Perinat Epidemiol. 2006 Mar;20(2):172-9. PMID: 16466435

227: Gloyn AL, Siddiqui J, Ellard S.

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2006 Mar;27(3):220-31. PMID: 16416420

226: Brackenridge A, Pearson ER, Shojaee-Moradie F, Hattersley AT, Russell-Jones D, Umpleby AM.

Contrasting Insulin Sensitivity of Endogenous Glucose Production Rate in Subjects With Hepatocyte Nuclear Factor-1{beta} and -1{alpha} Mutations. Diabetes. 2006 Feb;55(2):405-11. PMID: 16443774

225: Donnelly LA, Doney AS, Hattersley AT, Morris AD, Pearson ER.

The effect of obesity on glycaemic response to metformin or sulphonylureas in Type 2 diabetes. Diabet Med. 2006 Feb;23(2):128-33. PMID: 16433709

224: Zeggini E, Parkinson JR, Halford S, Owen KR, Walker M, Hitman GA, Levy JC, Sampson MJ, Frayling TM, Hattersley AT, McCarthy MI.

Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples. Diabet Med. 2005 Dec;22(12):1696-700. PMID: 16401314

223: Hattersley AT.

Beyond the beta cell in diabetes. Nat Genet. 2006 Jan;38(1):12-3. PMID: 16380722

222: Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL.

Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype. Am J Hum Genet. 2006 Jan;78(1):28-37. Epub 2005 Nov 16. PMID: 16385447

221: Timpson NJ, Lawlor DA, Harbord RM, Gaunt TR, Day IN, Palmer LJ, Hattersley AT, Ebrahim S, Lowe GD, Rumley A, Davey Smith G.

C-reactive protein and its role in metabolic syndrome: mendelian randomisation study. Lancet. 2005 Dec 3;366(9501):1954-9. PMID: 16325697

220: Fava S, Hattersley AT.

Reported parental age of death in type 2 diabetic patients with and without established diabetic nephropathy. Eur J Intern Med. 2005 Nov;16(7):482-4. PMID: 16275540

219: Chinnery PF, Elliott HR, Patel S, Lambert C, Keers SM, Durham SE, McCarthy MI, Hitman GA, Hattersley AT, Walker M.

Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes. Lancet. 2005 Nov 5;366(9497):1650-1. PMID: 16271646

218: Hattersley AT.

Molecular genetics goes to the diabetes clinic. Clin Med. 2005 Sep-Oct;5(5):476-81. PMID: 16268330

217: Zeggini E, Rayner W, Morris AP, Hattersley AT, Walker M, Hitman GA, Deloukas P, Cardon LR, McCarthy MI.

An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets. Nat Genet. 2005 Dec;37(12):1320-2. Epub 2005 Oct 30. PMID: 16258542

216: Shields BM, Knight B, Shakespeare L, Babrah J, Powell RJ, Clark PM, Hattersley AT.

Determinants of insulin concentrations in healthy 1-week-old babies in the community: Applications of a bloodspot assay. Early Hum Dev. 2005 Oct 12; [Epub ahead of print] PMID: 16226857

215: Hattersley AT, McCarthy MI.

What makes a good genetic association study? Lancet. 2005 Oct 8;366(9493):1315-23. PMID: 16214603 [PubMed - indexed for MEDLINE]

214: Zeggini E, Groves CJ, Parkinson JR, Halford S, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, O'rahilly S, Hattersley AT, McCarthy MI.

Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes. Diabetologia. 2005 Oct;48(10):2013-7. Epub 2005 Aug 18. PMID: 16132956

213: Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S.

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay. Hum Genet. 2005 Nov;118(2):214-24. Epub 2005 Nov 15 PMID: 16133182

212: Hattersley AT, Ashcroft FM.

Activating mutations in kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes. 2005 Sep;54(9):2503-13. PMID: 16123337

211: Knight B, Shields BM, Turner M, Powell RJ, Yajnik CS, Hattersley AT.

Evidence of genetic regulation of fetal longitudinal growth. Early Hum Dev. 2005 Aug 5; PMID: 16085375

210: Schnyder S, Mullis PE, Ellard S, Hattersley AT, Fluck CE.

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss Med Wkly. 2005 Jun 11;135(23-24):352-6. PMID: 16059790

209: Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM.

A Large-Scale Association Analysis of Common Variation of the HNF1{alpha} Gene With Type 2 Diabetes in the U.K. Caucasian Population. Diabetes. 2005 Aug;54(8):2487-91. PMID: 16046319

208: Slingerland AS, Hattersley AT

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment. Ann Med. 2005;37(3):186-95. PMID: 16019717

207: Stride A, Ellard S, Clark P, Shakespeare L, Salzmann M, Shepherd M, Hattersley AT.

{beta}-Cell Dysfunction, Insulin Sensitivity, and Glycosuria Precede Diabetes in Hepatocyte Nuclear Factor-1{alpha} Mutation Carriers. Diabetes Care. 2005 Jul;28(7):1751-6. PMID: 15983330

206: Maeda S, Tsukada S, Kanazawa A, Sekine A, Tsunoda T, Koya D, Maegawa H, Kashiwagi A, Babazono T, Matsuda M, Tanaka Y, Fujioka T, Hirose H, Eguchi T, Ohno Y, Groves CJ, Hattersley AT, Hitman GA, Walker M, Kaku K, Iwamoto Y, Kawamori R, Kikkawa R, Kamatani N, McCarthy MI, Nakamura Y.

Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. J Hum Genet. 2005 Jun 50(6):283-92 PMID: 15940393

205: Edghill EL, Bingham C, Ellard S, Hattersley AT.

Mutations in hepatocyte nuclear factor-1{beta} and their related phenotypes. J Med Genet. 2005 Jun 8; [Epub ahead of print] PMID: 15930087

204: Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom MS, Ashcroft FM.

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep. 2005 May;6(5):470-5. PMID: 15864298

203: Klupa T, Edghill EL, Nazim J, Sieradzki J, Ellard S, Hattersley AT, Malecki MT.

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation. Diabetologia. 2005 Apr 19; [Epub ahead of print] No abstract available. PMID: 15838686

202: Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HA, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, Ellard S, Hansen T, Hattersley AT.

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia. 2005 Apr 14; [Epub ahead of print] PMID: 15830177

201: Gloyn AL, Odili S, Zelent D, Buettger C, Castleden HA, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, d'Annunzio G, Stanley CA, Kwagh J, van Schaftingen E, Veiga-da-Cunha M, Barbetti F, Dunten P, Han Y, Grimsby J, Taub R, Ellard S, Hattersley AT, Matschinsky FM.

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. J Biol Chem. 2005 Apr 8;280(14):14105-13. Epub 2005 Jan 25. PMID: 15677479

200: Sagen JV, Pearson ER, Johansen A, Spyer G, Sovik O, Pedersen O, Njolstad PR, Hattersley AT, Hansen T.

Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1alpha mutation carriers. Diabet Med. 2005 Apr;22(4):406-9. PMID: 15787664

199: Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT.

Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet. 2005 Apr 1;14(7):925-34. Epub 2005 Feb 17. PMID: 15718250

198: Codner E, Flanagan S, Ellard S, Garcia H, Hattersley AT.

High-Dose Glibenclamide Can Replace Insulin Therapy Despite Transitory Diarrhea in Early-Onset Diabetes Caused by a Novel R201L Kir6.2 Mutation. Diabetes Care. 2005 Mar;28(3):758-9. No abstract available. PMID: 15735229

197: Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT.

Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet. 2005 Feb 17; [Epub ahead of print] PMID: 15718250

196: Ellard S, Hattersley AT, Brewer CM, Vaidya B.

Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clin Endocrinol (Oxf). 2005 Feb;62(2):169-75. PMID: 15670192

195: Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L, Wilkin TJ, McCarthy A, Ben-Shlomo Y, Davey Smith G, Ring S, Jones R, Golding J, Byberg L, Mann V, Axelsson T, Syvanen AC, Leon D, Hattersley AT.

Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes. 2005 Feb;54(2):576-81. PMID: 15677518

194: Gloyn AL, Odili S, Zelent D, Castleden HA, Steele AM, Stride A, Magnuson MA, Lorini R, d'Annunzio G, Stanley CA, Kwagh J, van Schaftingen E, Barbetti F, Han Y, Grimsby J, Taub R, Ellard S, Hattersley AT, Matschinsky FM.

Insights into the structure and regulation of glucokinase from a novel mutation (V62M) which causes maturity-onset diabetes of the young. J Biol Chem. 2005 Jan 25; [Epub ahead of print] PMID: 15677479

193: Liew CF, Groves CJ, Wiltshire S, Zeggini E, Frayling TM, Owen KR, Walker M, Hitman GA, Levy JC, O'rahilly S, Hattersley AT, Johnston DG, McCarthy MI.

Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism. Diabetologia. 2004 Dec;47(12):2168-75. Epub 2004 Dec 15. PMID: 15662557

192: Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, Gloyn AL.

Permanent neonatal diabetes in an Asian infant. J Pediatr. 2005 Jan;146(1):131-3. PMID: 15644838

191: Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM.

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci U S A. 2004 Dec 14;101(50):17539-44. Epub 2004 Dec 06. PMID: 15583126

190: Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crino A, Lorini R, Cerutti F, Vanelli M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology.

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat. 2005 Jan;25(1):22-7. PMID: 15580558

189: Dobson L, Stride A, Bingham C, Elworthy S, Sheldon CD, Hattersley AT.

Microalbuminuria as a screening tool in cystic fibrosis-related diabetes. Pediatr Pulmonol. 2005 Feb;39(2):103-7. PMID: 15573388

188: Zeggini E, Parkinson J, Halford S, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, Sampson MJ, Feskens EJ, Hattersley AT, McCarthy MI.

Association Studies of Insulin Receptor Substrate 1 Gene (IRS1) Variants in Type 2 Diabetes Samples Enriched for Family History and Early Age of Onset. Diabetes. 2004 Dec;53(12):3319-22. PMID: 15561966

187: Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, J Coleman R, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS.

Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet. 2004 Dec;36(12):1301-1305. Epub 2004 Nov 14. PMID: 15543146

186: Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Love-Gregory LD, Permutt MA, Hattersley AT, Frayling TM.

Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population. Diabetes. 2004 Nov;53(11):3002-6. PMID: 15504983

185: Edghill EL, Gloyn AL, Gillespie KM, Lambert AP, Raymond NT, Swift PG, Ellard S, Gale EA, Hattersley AT.

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years. Diabetes. 2004 Nov;53(11):2998-3001. PMID: 15504982

184: Harries LW, Wickham CL, Evans JC, Rule SA, Joyner MV, Ellard S.

Analysis of haematopoietic chimaerism by quantitative real-time polymerase chain reaction. Bone Marrow Transplant. 2004 Nov 08; [Epub ahead of print] PMID: 15531894

183: Bingham C, Hattersley AT.

Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1{beta} Nephrol Dial Transplant. 2004 Nov;19(11):2703-2708. No abstract available. PMID: 15496559

182: Vaxillaire M, Populaire C, Busiah K, Cave H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M.

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes. 2004 Oct;53(10):2719-22. PMID: 15448107

181: Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Sovik O, Njolstad PR.

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2004 Oct;53(10):2713-8. PMID: 15448106

180: Stenhouse E, Wright DE, Hattersley AT, Millward BA.

Weight differences in Plymouth toddlers compared to the British Growth Reference Population. Arch Dis Child. 2004 Sep;89(9):843-4. PMID: 15321862

179: Stenhouse E, Wright DE, Hattersley AT, Millward A.

The accuracy of birth weight. J Clin Nurs. 2004 Sep;13(6):767-8. No abstract available. PMID: 15317518

178: Hattersley AT.

Unlocking the secrets of the pancreatic beta cell: man and mouse provide the key. J Clin Invest. 2004 Aug;114(3):314-6. Review. PMID: 15286795

177: Stride A, Pearson ER, Brown A, Gooding K, Castleden HA, Hattersley AT.

Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene. Diabet Med. 2004 Aug;21(8):928-30. PMID: 15270800

176: Gloyn AL, Cummings EA, Edghill EL, Harries LW, Scott R, Costa T, Temple IK, Hattersley AT, Ellard S.

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. J Clin Endocrinol Metab. 2004 Aug;89(8):3932-5. PMID: 15292329

175: Dobson L, Sheldon CD, Hattersley AT.

Understanding cystic-fibrosis-related diabetes: best thought of as insulin deficiency? J R Soc Med. 2004;97 Suppl 44:26-35. Review. PMID: 15239291

174: Burren CP, Hattersley AT.

Remitting Diabetes: A new genetic subgroup? Diabetes Care. 2004 Jul;27(7):1836. No abstract available. PMID: 15220275

173: Dobson L, Sheldon CD, Hattersley AT.

Conventional measures underestimate glycaemia in cystic fibrosis patients. Diabet Med. 2004 Jul;21(7):691-6. PMID: 15209760

172: Whittock NV, Ellard S, Duncan J, de Die-Smulders CE, Vles JS, Turnpenny PD.

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. Clin Genet. 2004 Jul;66(1):67-72. PMID: 15200511

171: Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD.

Mutated MESP2 Causes Spondylocostal Dysostosis in Humans. Am J Hum Genet. 2004 Jun;74(6):1249-54. Epub 2004 Apr 30. PMID: 15122512

170: Ehtisham S, Hattersley AT, Dunger DB, Barrett TG; British Society for Paediatric Endocrinology and Diabetes Clinical Trials Group.

First UK survey of paediatric type 2 diabetes and MODY. Arch Dis Child. 2004 Jun;89(6):526-9. PMID: 15155395

169: Vaidya B, Campbell V, Tripp JH, Spyer G, Hattersley AT, Ellard S.

Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. Clin Endocrinol (Oxf). 2004 Jun;60(6):711-8. PMID: 15163335

168: McCarron P, Davey Smith G, Hattersley AT.

Type 2 diabetes in grandparents and birth weight in offspring and grandchildren in the ALSPAC study. J Epidemiol Community Health. 2004 Jun;58(6):517-522. PMID: 15143122

167: Owen KR, Evans JC, McCarthy MI, Walker M, Hitman GA, Frayling TM, Hattersley AT.

Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes. Diabetologia. 2004 May; 47(5):957-8. PMID: 15133601

166: Pearson ER, Badman MK, Lockwood CR, Clark PM, Ellard S, Bingham C, Hattersley AT.

Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations. Diabetes Care. 2004 May;27(5):1102-7. PMID: 15111528

165: Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njolstad PR, Ashcroft FM, Hattersley AT.

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004 Apr 29;350(18):1838-49. PMID: 15115830

164: Harries LW, Ellard S, Jones RW, Hattersley AT, Bingham C.

Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. Diabetologia. 2004 Apr 15 [Epub ahead of print] PMID: 15085338

163: Shepherd M, Hattersley AT.

'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing. Clin Med. 2004 Mar-Apr;4(2):144-7. PMID: 15139733

162: Wiltshire S, Frayling TM, Groves CJ, Levy JC, Hitman GA, Sampson M, Walker M, Menzel S, Hattersley AT, Cardon LR, McCarthy MI.

Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24. Diabetes. 2004 Mar;53(3):855-60. PMID: 14988275

161: Mills GW, Avery PJ, McCarthy MI, Hattersley AT, Levy JC, Hitman GA, Sampson M, Walker M.

Heritability estimates for beta cell function and features of the insulin resistance syndrome in UK families with an increased susceptibility to Type 2 diabetes. Diabetologia. 2004 Feb 13 [Epub ahead of print] PMID: 14963647

160: Harries LW, Hattersley AT, Ellard S.

Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay. Diabetes. 2004 Feb;53(2):500-4. PMID: 14747304

159: Greaves CJ, Stead JW, Hattersley AT, Ewings P, Brown P, Evans PH.

A simple pragmatic system for detecting new cases of type 2 diabetes and impaired fasting glycaemia in primary care. Fam Pract. 2004 Feb;21(1):57-62. PMID: 14760046

158: Owen KR, Donohoe M, Ellard S, Clarke TJ, Nicholls AJ, Hattersley AT, Bingham C.

Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). Nephron Clin Pract. 2004;96(2):c35-8. PMID: 14988595

157: Mitchell SM, Hattersley AT, Knight B, Turner T, Metcalf BS, Voss LD, Davies D, McCarthy A, Wilkin TJ, Smith GD, Ben-Shlomo Y, Frayling TM.

Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations. J Clin Endocrinol Metab. 2004 Jan; 89(1): 310-7. PMID: 14715866

156: Weedon MN, Hattersley AT, Frayling TM.

Tall stories: the fundamental difficulties of genetic association studies. Clin Endocrinol (Oxf). 2004 Jan; 60(1): 145-6. No abstract available. PMID: 14678302

155: Ellard S.

Multiple endocrine neoplasia types 1 and 2. Methods Mol Med. 2004; 92: 267-83. No abstract available. PMID: 14733317

154: McCarthy MI, Gloyn AL.

Genetics for Endocrinologists: The Molecular Genetic Basis of Endocrine Disorders. Clin Endocrinol (Oxf). 2003 Dec;59(6):826. No abstract available. PMID: 14974932

153: Richter S, Shih DQ, Pearson ER, Wolfrum C, Fajans SS, Hattersley AT, Stoffel M.

Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels. Diabetes. 2003 Dec; 52(12): 2989-95. PMID: 14633861

152: Ward KJ, Shields B, Knight B, Salzmann MB, Hattersley AT, Frayling TM.

Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy. Lipids Health Dis. 2003 Nov 5; 2(1): 9. PMID: 14613578

151: Weedon MN, Schwarz PE, Horikawa Y, Iwasaki N, Illig T, Holle R, Rathmann W, Selisko T, Schulze J, Owen KR, Evans J, Del Bosque-Plata L, Hitman G, Walker M, Levy JC, Sampson M, Bell GI, McCarthy MI, Hattersley AT, Frayling TM.

Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am J Hum Genet. 2003 Nov;73(6):1208-12. No abstract available. PMID: 14574648

150: Shepherd M, Pearson ER, Houghton J, Salt G, Ellard S, Hattersley AT.

No Deterioration in Glycemic Control in HNF-1alpha Maturity-Onset Diabetes of the Young Following Transfer From Long-Term Insulin to Sulphonylureas. Diabetes Care. 2003 Nov;26(11):3191-2. No abstract available. PMID: 14578267

149: Gloyn AL.

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat. 2003 Nov;22(5):353-62. PMID: 14517946

148: Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LI, Beards F, Hattersley AT, Ellard S.

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). Hum Mutat. 2003 Nov;22(5):417. PMID: 14517956

147: Whittock NV, Izatt L, Mann A, Homfray T, Bennett C, Mansour S, Hurst J, Fryer A, Saggar AK, Barwell JG, Ellard S, Clayton PT.

Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). J Invest Dermatol. 2003 Oct; 121(4): 939-42. No abstract available. PMID: 14632217

146: Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT.

Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet. 2003 Oct 18;362(9392):1275-81. PMID: 14575972

145: Owen KR, Donohoe M, Ellard S, Hattersley AT.

Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. Diabet Med. 2003 Oct;20(10):823-7. PMID: 14510863

144: Gloyn AL, Noordam K, Willemsen MA, Ellard S, Lam WW, Campbell IW, Midgley P, Shiota C, Buettger C, Magnuson MA, Matschinsky FM, Hattersley AT.

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes. 2003 Sep;52(9):2433-40. PMID: 12941786

143: Weedon MN, Turner M, Knight B, Clark P, Hattersley AT, Frayling TM.

Variants in the aromatase gene and on the Y-chromosome are not associated with adult height or insulin resistance in a UK population. Clin Endocrinol (Oxf). 2003 Aug;59(2):175-9. PMID: 12864794

142: Bohn S, Thomas H, Turan G, Ellard S, Bingham C, Hattersley AT, Ryffel GU.

Distinct Molecular and Morphogenetic Properties of Mutations in the Human HNF1beta Gene That Lead to Defective Kidney Development. J Am Soc Nephrol. 2003 Aug;14(8):2033-41. PMID: 12874457

141: Frayling TM, Wiltshire S, Hitman GA, Walker M, Levy JC, Sampson M, Groves CJ, Menzel S, McCarthy MI, Hattersley AT.

Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11. Diabetes. 2003 Jul;52(7):1857-63. PMID: 12829657

140: Owen KR, Stride A, Ellard S, Hattersley AT.

Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes. Diabetes Care. 2003 Jul;26(7):2088-93. PMID: 12832318

139: Weedon MN, Gloyn AL, Frayling TM, Hattersley AT, Davey Smith G, Ben-Shlomo Y.

Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2. Diabetologia. 2003 Jul;46(7):1021-3. Epub 2003 Jun 18. No abstract available. PMID: 12819904

138: Whittock NV, Turnpenny PD, Tuerlings J, Ellard S.

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. Prenat Diagn. 2003 Jul;23(7):575-9. PMID: 12868087

137: Owen KR, Roland J, Smith K, Hattersley AT.

Adolescent onset Type 2 diabetes in a non-obese Caucasian patient with an unbalanced translocation. Diabet Med. 2003 Jun;20(6):483-5. PMID: 12786684

136: Dobson L, Sheldon CD, Hattersley AT.

Validation of interstitial fluid continuous glucose monitoring in cystic fibrosis. Diabetes Care. 2003 Jun;26(6):1940-1. No abstract available. PMID: 12766139

135: Steele AM.

Implementing a research project on the development of diabetes. Nurs Times. 2003 May 13-19;99(19):34-6. PMID: 12768970

134: Groves CJ, Wiltshire S, Smedley D, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, O'Rahilly S, Menzel S, Hattersley AT, McCarthy MI.

Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility. Diabetes. 2003 May;52(5):1300-5. PMID: 12716770

133: Mitchell SM, Weedon MN, Owen KR, Shields B, Wilkins-Wall B, Walker M, McCarthy MI, Frayling TM, Hattersley AT.

Genetic variation in the small heterodimer partner gene and young-onset type 2 diabetes, obesity, and birth weight in u.k. Subjects. Diabetes. 2003 May;52(5):1276-9. PMID: 12716764

132: Powell DS, Maksoud H, Charge SB, Moffitt JH, Desai M, Da Silva Fihlo RL, Hattersley AT, Stratton IM, Matthews DR, Levy JC, Clark A.

Apolipoprotein E genotype, islet amyloid deposition and severity of Type 2 diabetes. Diabetes Res Clin Pract. 2003 May;60(2):105-10. PMID: 12706318

131: Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S.

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet. 2003 May;40(5):333-9. PMID: 12746394

130: Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT.

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int. 2003 May;63(5):1645-51. PMID: 12675839

129: Frayling TM, Lindgren CM, Chevre JC, Menzel S, Wishart M, Benmezroua Y, Brown A, Evans JC, Rao PS, Dina C, Lecoeur C, Kanninen T, Almgren P, Bulman MP, Wang Y, Mills J, Wright-Pascoe R, Mahtani MM, Prisco F, Costa A, Cognet I, Hansen T, Pedersen O, Ellard S, Tuomi T, Groop LC, Froguel P, Hattersley AT, Vaxillaire M.

A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. Diabetes. 2003 Mar;52(3):872-81. PMID: 12606533

128: Owen KR, Roland J, Smith K, Hattersley AT.

Adolescent onset Type 2 diabetes in a non-obese Caucasian patient with an unbalanced translocation. Diabet Med. 2003 Jun;20(6):483-5. PMID: 12786684

127: Dobson L, Sheldon CD, Hattersley AT.

Validation of interstitial fluid continuous glucose monitoring in cystic fibrosis. Diabetes Care. 2003 Jun;26(6):1940-1. No abstract available. PMID: 12766139

126: Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM.

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes. 2003 Feb;52(2):568-72. PMID: 12540637

125: Lambert AP, Ellard S, Allen LI, Gallen IW, Gillespie KM, Bingley PJ, Hattersley AT.

Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes. Diabetes Care. 2003 Feb;26(2):333-7. PMID: 12547858

124: Lockwood CR, Bingham C, Frayling TM.

In silico searching of human and mouse genome data identifies known and unknown HNF1 binding sites upstream of beta-cell genes. Mol Genet Metab. 2003 Feb;78(2):145-51. PMID: 12618086

123: Gloyn AL.

The search for type 2 diabetes genes. Ageing Res Rev. 2003 Apr;2(2):111-27. PMID: 12605956

122: Ferguson SC, Deary IJ, Evans JC, Ellard S, Hattersley AT, Frier BM.

Apolipoprotein-e influences aspects of intellectual ability in type 1 diabetes. Diabetes. 2003 Jan;52(1):145-8. PMID: 12502505

121: Lockwood CR, Frayling TM.

Combining genome and mouse knockout expression data to highlight binding sites for the transcription factor HNF1alpha. In Silico Biol. 2002 Dec 25 [Epub ahead of print] PMID: 12765553  

120: Waller SC, Rees L, Woolf AS, Ellard S, Pearson ER, Hattersley AT, Bingham C.

Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene. Am J Kidney Dis. 2002 Dec;40(6):1325-30. PMID: 12460054

119: Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Hattersley AT.

Intrauterine Hyperglycemia Is Associated With an Earlier Diagnosis of Diabetes in HNF-1alpha Gene Mutation Carriers. Diabetes Care. 2002 Dec;25(12):2287-91. PMID: 12453975

118: Dobson L, Hattersley AT, Tiley S, Elworthy S, Oades PJ, Sheldon CD.

Clinical improvement in cystic fibrosis with early insulin treatment. Arch Dis Child. 2002 Nov;87(5):430-1. No abstract available. PMID: 12390923

117: Thomas H, Badenberg B, Bulman M, Lemm I, Lausen J, Kind L, Roosen S, Ellard S, Hattersley AT, Ryffel GU.

Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations. Biol Chem. 2002 Nov;383(11):1691-700. PMID: 12530534

116: Frayling TM, Hattersley AT, Smith GD, Ben-Shlomo Y.

Conflicting results on variation in the IGFI gene highlight methodological considerations in the design of genetic association studies. Diabetologia. 2002 Nov;45(11):1605-6. No abstract available. PMID: 12498159

115: Bulman MP, Harries LW, Hansen T, Shepherd M, Kelly WF, Hattersley AT, Ellard S.

Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. Diabetologia. 2002 Oct;45(10):1463-7. PMID: 12378390

114: Owen KR, Shepherd M, Stride A, Ellard S, Hattersley AT.

Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics. Diabet Med. 2002 Sep;19(9):758-61. PMID: 12207813

113: Mitchell SM, Vaxillaire M, Thomas H, Parrizas M, Benmezroua Y, Costa A, Hansen T, Owen KR, Tuomi T, Pirie F, Ryffel GU, Ferrer J, Froguel P, Hattersley AT, Frayling TM.

Rare variants identified in the HNF- 4 alpha beta-cell-specific promoter and alternative exon 1 lack biological significance in maturity onset diabetes of the young and young onset Type II diabetes. Diabetologia. 2002 Sep;45(9):1344-8. PMID: 12242469

112: Fava S, Hattersley AT.

The role of genetic susceptibility in diabetic nephropathy: evidence from family studies. Nephrol Dial Transplant. 2002 Sep;17(9):1543-6. No abstract available. PMID: 12198200

111: Frayling TM, Hattersley AT, McCarthy A, Holly J, Mitchell SM, Gloyn AL, Owen K, Davies D, Smith GD, Ben-Shlomo Y.

A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations. Diabetes. 2002 Jul;51(7):2313-6. PMID: 12086966

110: Gloyn AL, Ellard S, Shepherd M, Howell RT, Parry EM, Jefferson A, Levy ER, Hattersley AT.

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene. Diabetes. 2002 Jul;51(7):2329-33. PMID: 12086970

109: Stride A, Lambert P, Burden AC, Mansell P, Page S, Hattersley AT.

Necrobiosis lipodica is a clinical feature of maturity-onset diabetes of the young. Diabetes Care. 2002 Jul;25(7):1249-50. No abstract available. PMID: 12087034

108: Shore AC, Evans JC, Frayling TM, Clark PM, Lee BC, Horikawa Y, Hattersley AT, Tooke JE.

Association of calpain-10 gene with microvascular function. Diabetologia. 2002 Jun;45(6):899-904. PMID: 12107735

107: Turner JJ, Leotlela PD, Pannett AA, Forbes SA, Bassett JH, Harding B, Christie PT, Bowen-Jones D, Ellard S, Hattersley A, Jackson CE, Pope R, Quarrell OW, Trembath R, Thakker RV.

Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 2002 Jun;87(6):2688-93. PMID: 12050235

106: Mitchell SM, Gloyn AL, Owen KR, Hattersley AT, Frayling TM.

The role of the HNF4alpha enhancer in type 2 diabetes. Mol Genet Metab. 2002 Jun;76(2):148-51. PMID: 12083813

105: Stride A, Hattersley AT.

Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann Med. 2002;34(3):207-16. PMID: 12173691

104: Haddad L, Evans JC, Gharani N, Robertson C, Rush K, Wiltshire S, Frayling TM, Wilkin TJ, Demaine A, Millward A, Hattersley AT, Conway G, Cox NJ, Bell GI, Franks S, McCarthy MI.

Variation within the Type 2 Diabetes Susceptibility Gene Calpain-10 and Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2002 Jun 1;87(6):2606-2610. PMID: 12050223

103: Turner JJ, Leotlela PD, Pannett AA, Forbes SA, Bassett JH, Harding B, Christie PT, Bowen-Jones D, Ellard S, Hattersley A, Jackson CE, Pope R, Quarrell OW, Trembath R, Thakker RV.

Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 2002 Jun;87(6):2688-93. PMID: 12050235

102: Minton JA, Hattersley AT, Owen K, McCarthy MI, Walker M, Latif F, Barrett T, Frayling TM.

Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. Diabetes. 2002 Apr;51(4):1287-90. PMID: 11916957

101: Gloyn AL, Desai M, Clark A, Levy JC, Holman RR, Frayling TM, Hattersley AT, Ashcroft SJ.

Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with Type II diabetes. Diabetologia. 2002 Apr;45(4):580-3. PMID: 12032636

100: Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT.

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int. 2002 Apr;61(4):1243-51. PMID: 11918730

99: Stride A, Vaxillaire M, Tuomi T, Barbetti F, Njolstad PR, Hansen T, Costa A, Conget I, Pedersen O, Sovik O, Lorini R, Groop L, Froguel P, Hattersley AT.

The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia. 2002 Mar;45(3):427-35. PMID: 11914749

98: Wiltshire S, Frayling TM, Hattersley AT, Hitman GA, Walker M, Levy JC, O'Rahilly S, Groves CJ, Menzel S, Cardon LR, McCarthy MI.

Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes. Am J Hum Genet. 2002 Feb;70(2):543-6. PMID: 11753821

97: Gloyn AL, Ellard S, Shield JP, Temple IK, Mackay DJ, Polak M, Barrett T, Hattersley AT.

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia. 2002 Feb;45(2):290. No abstract available. PMID: 11942315

96: Lynn S, Evans JC, White C, Frayling TM, Hattersley AT, Turnbull DM, Horikawa Y, Cox NJ, Bell GI, Walker M.

Variation in the calpain-10 gene affects blood glucose levels in the British population. Diabetes. 2002 Jan;51(1):247-50. PMID: 11756349

95: Fava S, Azzopardi J, Ellard S, Hattersley AT.

ACE gene polymorphism as a prognostic indicator in patients with type 2 diabetes and established renal disease. Diabetes Care. 2001 Dec;24(12):2115-20. PMID: 11723093

94: McCarthy MI, Hattersley AT.

Molecular diagnostics in monogenic and multifactorial forms of type 2 diabetes. Expert Rev Mol Diagn. 2001 Nov;1(4):403-12. Review. PMID: 11901855

93: Kong C, Ellard S, Johnston C, Farid NR.

Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation. J Endocrinol Invest. 2001 Nov;24(10):806-10. Review. PMID: 11765051

92: Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LI, Hattersley AT, Woolf AS.

Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol. 2001 Oct;12(10):2175-80. PMID: 11562418

91: Thomas H, Jaschkowitz K, Bulman M, Frayling TM, Mitchell SM, Roosen S, Lingott-Frieg A, Tack CJ, Ellard S, Ryffel GU, Hattersley AT.

A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet. 2001 Sep 15;10(19):2089-97. PMID: 11590126

90: Wiltshire S, Hattersley AT, Hitman GA, Walker M, Levy JC, Sampson M, O'Rahilly S, Frayling TM, Bell JI, Lathrop GM, Bennett A, Dhillon R, Fletcher C, Groves CJ, Jones E, Prestwich P, Simecek N, Rao PV, Wishart M, Foxon R, Howell S, Smedley D, Cardon LR, Menzel S, McCarthy MI.

A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. Am J Hum Genet. 2001 Sep;69(3):553-69. PMID: 11484155 [PubMed - indexed for MEDLINE

89: Evans JC, Frayling TM, Cassell PG, Saker PJ, Hitman GA, Walker M, Levy JC, O'Rahilly S, Rao PV, Bennett AJ, Jones EC, Menzel S, Prestwich P, Simecek N, Wishart M, Dhillon R, Fletcher C, Millward A, Demaine A, Wilkin T, Horikawa Y, Cox NJ, Bell GI, Ellard S, McCarthy MI, Hattersley AT.

Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet. 2001 Sep;69(3):544-52. PMID: 11481585

88: Owen K, Hattersley AT.

Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab. 2001 Sep;15(3):309-23. Review. PMID: 11554773

87: Bingham C, Ellard S, Nicholls AJ, Pennock CA, Allen J, James AJ, Satchell SC, Salzmann MB, Hattersley AT.

The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. Diabetes. 2001 Sep;50(9):2047-52. PMID: 11522670

86: Gloyn AL, McCarthy MI.

The genetics of type 2 diabetes. Best Pract Res Clin Endocrinol Metab. 2001 Sep;15(3):293-308. Review. PMID: 11554772

85: Butter NL, Hattersley AT, Clark PM.

Development of a bloodspot assay for insulin. Clin Chim Acta. 2001 Aug 20;310(2):141-50. PMID: 11498079

84: Kousta E, Ellard S, Allen LI, Saker PJ, Huxtable SJ, Hattersley AT, McCarthy MI.

Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes. Diabet Med. 2001 Aug;18(8):683-4. No abstract available. PMID: 11553210

83: Spyer G, Hattersley AT, Sykes JE, Sturley RH, MacLeod KM.

Influence of maternal and fetal glucokinase mutations in gestational diabetes. Am J Obstet Gynecol. 2001 Jul;185(1):240-1. PMID: 11483936

82: Lee BC, Shore AC, Humphreys JM, Lowe GD, Rumley A, Clark PM, Hattersley AT, Tooke JE.

Skin microvascular vasodilatory capacity in offspring of two parents with Type 2 diabetes. Diabet Med. 2001 Jul;18(7):541-5. PMID: 11553182

81: Shield J, Owen K, Robinson DO, Mackay D, Ellard S, Hattersley A, Temple IK.

Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus. Diabetologia. 2001 Jul;44(7):924. No abstract available. PMID: 11508282

80: Coward RJ, Risdon RA, Bingham C, Hattersley AT, Woolf AS.

Kidney disease in hypomelanosis of Ito. Nephrol Dial Transplant. 2001 Jun;16(6):1267-9. No abstract available. PMID: 11390731

79: Gloyn AL, Ashcroft SJ.

The beta-cell Ca2+/calmodulin-dependent protein kinase II (CaM kinase II) beta3 isoform containing a proline-rich tandem repeat in the association domain can be found in the human genome. Diabetologia. 2001 Jun;44(6):787. No abstract available. PMID: 11440377

78: Shepherd M, Ellis I, Ahmad AM, Todd PJ, Bowen-Jones D, Mannion G, Ellard S, Sparkes AC, Hattersley AT.

Predictive genetic testing in maturity-onset diabetes of the young (MODY). Diabet Med. 2001 May;18(5):417-21. PMID: 11472455

77: Fava S, Azzopardi J, Watkins PJ, Hattersley AT.

Adult height and proteinuria in type 2 diabetes. Nephrol Dial Transplant. 2001 Mar;16(3):525-8. PMID: 11239026

76: Gloyn AL, Hashim Y, Ashcroft SJ, Ashfield R, Wiltshire S, Turner RC.

Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53). Diabet Med. 2001 Mar;18(3):206-12. PMID: 11318841

75: Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, Hattersley AT.

beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes. 2001 Feb;50 Suppl 1:S94-100. PMID: 11272211

74: Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT.

beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. Diabetes. 2001 Feb;50 Suppl 1:S101-7. PMID: 11272165

73: Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT.

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet. 2001 Jan;68(1):219-24. PMID: 11085914

72: Spyer G, Hattersley AT, MacDonald IA, Amiel S, MacLeod KM.

Hypoglycaemic counter-regulation at normal blood glucose concentrations in patients with well controlled type-2 diabetes. Lancet. 2000 Dec 9;356(9246):1970-4. PMID: 11130525

71: Cassell PG, Saker PJ, Huxtable SJ, Kousta E, Jackson AE, Hattersley AT, Frayling TM, Walker M, Kopelman PG, Ramachandran A, Snehelatha C, Hitman GA, McCarthy MI.

Evidence that single nucleotide polymorphism in the uncoupling protein 3 (UCP3) gene influences fat distribution in women of European and Asian origin. Diabetologia. 2000 Dec;43(12):1558-64. PMID: 11151767

70: Wickham CL, Sarsfield P, Joyner MV, Jones DB, Ellard S, Wilkins B.

Formic acid decalcification of bone marrow trephines degrades DNA: alternative use of EDTA allows the amplification and sequencing of relatively long PCR products. Mol Pathol. 2000 Dec;53(6):336. No abstract available. PMID: 11193054

69: Ellard S.

Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum Mutat. 2000 Nov;16(5):377-85. Review. PMID: 11058894

68: Permutt MA, Hattersley AT.

Searching for type 2 diabetes genes in the post-genome era. Trends Endocrinol Metab. 2000 Nov;11(9):383-93. Review. PMID: 11042470

67: Bingham C, Nicholls AJ, Hattersley AT.

Heterogeneity in the clinical course of patients with Type 2 diabetes on dialysis--the need for different preventative strategies. Diabet Med. 2000 Sep;17(9):685-6. No abstract available. PMID: 11051291

66: Bulman MP, Ellard S, Hattersley AT.

R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family. Diabetologia. 2000 Sep;43(9):1203. No abstract available. PMID: 11043869

65: Ellard S, Bulman MP, Frayling TM, Shepherd M, Hattersley AT.

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY). Hum Mutat. 2000 Sep;16(3):273. PMID: 10980542

64: Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayers S, Shepherd M, Clark P, Millward A, Demaine A, Wilken T, Docherty K, Hattersley AT.

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes J Clin Invest. 2000 Sep;106(5):717. No abstract available. PMID: 10974025

63: Wickham CL, Joyner MV, Lynas C, Ellard S.

Detection of clonal B-cell populations using fluorescently labeled nucleotides. Biotechniques. 2000 Aug;29(2):215-8. No abstract available. PMID: 10948417

62: Velho G, Hattersley AT, Froguel P.

Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity. Diabetologia. 2000 Aug;43(8):1060-3. PMID: 10990085

61: Pearson ER, Liddell WG, Shepherd M, Corrall RJ, Hattersley AT.

Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med. 2000 Jul;17(7):543-5. PMID: 10972586

60: Pearson ER, Hattersley AT.

Unravelling the heterogeneity of non insulin dependent diabetes. J R Coll Physicians Lond. 2000 Jul-Aug;34(4):332-5. Review. No abstract available. PMID: 11005066

59: Evans JC, Frayling TM, Ellard S, Gutowski NJ.

Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet. 2000 Jun;106(6):636-8. PMID: 10942112

58: Wickham CL, Lynas C, Ellard S.

Detection of clonal T cell populations by high resolution PCR using fluorescently labelled nucleotides; evaluation using conventional LIS-SSCP. Mol Pathol. 2000 Jun;53(3):150-4. PMID: 10897335

57: Spyer G, Ellard S, Hattersley A.

Growth-hormone treatment and risk of diabetes. Lancet. 2000 May 27;355(9218):1913-4. No abstract available. PMID: 10866472

56: Wild W, Pogge von Strandmann E, Nastos A, Senkel S, Lingott-Frieg A, Bulman M, Bingham C, Ellard S, Hattersley AT, Ryffel GU.

The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4695-700. PMID: 10758154

55: Fava S, Azzopardi J, Hattersley AT, Watkins PJ.

Increased prevalence of proteinuria in diabetic sibs of proteinuric type 2 diabetic subjects. Am J Kidney Dis. 2000 Apr;35(4):708-12. PMID: 10739793

54: Fegan G, Ward D, Clarke L, MacLeod K, Hattersley A.

The HOPE study and diabetes. Heart Outcomes Prevention Evaluation. Lancet. 2000 Apr 1;355(9210):1182-3; discussion 1183-4. No abstract available. PMID: 10791400

53: Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD.

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000 Apr;24(4):438-41. PMID: 10742114

52: Tack CJ, Ellard S, Hattersley AT.

A severe clinical phenotype results from the co-inheritance of type 2 susceptibility genes and a hepatocyte nuclear factor-1alpha mutation. Diabetes Care. 2000 Mar;23(3):424-5. No abstract available. PMID: 10868881

51: Lynn S, Hattersley AT, McCarthy MI, Frayling TM, Turnbull DM, Walker M.

Intermediate expansions of a X25/frataxin gene GAA repeat and type II diabetes: assessment using parent-offspring trios. Diabetologia. 2000 Mar;43(3):384-5. No abstract available. PMID: 10768101

50: Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT.

Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int. 2000 Mar;57(3):898-907. PMID: 10720943

49: Shepherd M, Hattersley AT, Sparkes AC.

Predictive genetic testing in diabetes: a case study of multiple perspectives. Qual Health Res. 2000 Mar;10(2):242-59. PMID: 10788286

48: de Bono JS, Dalgleish AG, Carmichael J, Diffley J, Lofts FJ, Fyffe D, Ellard S, Gordon RJ, Brindley CJ, Evans TR.

Phase I study of ONO-4007, a synthetic analogue of the lipid A moiety of bacterial lipopolysaccharide. Clin Cancer Res. 2000 Feb;6(2):397-405. PMID: 10690516

47: Ellard S, Beards F, Allen LI, Shepherd M, Ballantyne E, Harvey R, Hattersley AT.

A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia. 2000 Feb;43(2):250-3. PMID: 10753050

46: Frayling TM, McCarthy MI, Walker M, Levy JC, O'Rahilly S, Hitman GA, Rao PV, Bennett AJ, Jones EC, Menzel S, Ellard S, Hattersley AT.

No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians. J Clin Endocrinol Metab. 2000 Feb;85(2):853-7. PMID: 10690901

45: Wickham CL, Boyce M, Joyner MV, Sarsfield P, Wilkins BS, Jones DB, Ellard S.

Amplification of PCR products in excess of 600 base pairs using DNA extracted from decalcified, paraffin wax embedded bone marrow trephine biopsies. Mol Pathol. 2000 Feb;53(1):19-23. PMID: 10884917

44: Lausen J, Thomas H, Lemm I, Bulman M, Borgschulze M, Lingott A, Hattersley AT, Ryffel GU.

Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree. Nucleic Acids Res. 2000 Jan 15;28(2):430-7. PMID: 10606640

43: Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O'Rahilly S, Hattersley AT, McCarthy MI.

Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles. Diabetes. 2000 Jan;49(1):126-30. PMID: 10615960

42: Hattersley AT.

Diagnosis of maturity-onset diabetes of the young in the pediatric diabetes clinic. J Pediatr Endocrinol Metab. 2000;13 Suppl 6:1411-7. Review. PMID: 11202217

41: Frayling TM, Walker M, McCarthy MI, Evans JC, Allen LI, Lynn S, Ayres S, Millauer B, Turner C, Turner RC, Sampson MJ, Hitman GA, Ellard S, Hattersley AT.

Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes. Diabetes. 1999 Dec;48(12):2475-9. PMID: 10580439

40: Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayres S, Shepherd M, Clark P, Millward A, Demaine A, Wilkin T, Docherty K, Hattersley AT.

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest. 1999 Nov;104(9):R33-9. PMID: 10545530

39: Hattersley A.

Can molecular genetics help in the clinic? Diabet Med. 1999 Sep;16(9):788-91. No abstract available. PMID: 10510959

38: Lee BC, Appleton M, Shore AC, Tooke JE, Hattersley AT.

Impaired maximum microvascular hyperaemia in patients with MODY 3 (hepatocyte nuclear factor-1alpha gene mutations). Diabet Med. 1999 Sep;16(9):731-5. PMID: 10510948

37: Miedzybrodzka Z, Hattersley AT, Ellard S, Pearson D, de Silva D, Harvey R, Haites N.

Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing. Eur J Hum Genet. 1999 Sep;7(6):729-32. PMID: 10482964

36: Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S.

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet. 1999 Jul;65(1):175-82. PMID: 10364530

35: Heward JM, Allahabadia A, Armitage M, Hattersley A, Dodson PM, Macleod K, Carr-Smith J, Daykin J, Daly A, Sheppard MC, Holder RL, Barnett AH, Franklyn JA, Gough SC.

The development of Graves' disease and the CTLA-4 gene on chromosome 2q33. J Clin Endocrinol Metab. 1999 Jul;84(7):2398-401. PMID: 10404810

34: Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM.

Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. Ophthalmology. 1999 Jun;106(6):1101-8. PMID: 10366077

33: Hattersley AT, Tooke JE.

The fetal insulin hypothesis: an alternative explanation of the association of low birthweight with diabetes and vascular disease. Lancet. 1999 May 22;353(9166):1789-92. Review. PMID: 10348008

32: Ellard S, Bulman MP, Frayling TM, Allen LI, Dronsfield MJ, Tack CJ, Hattersley AT.

Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. Diabetes. 1999 Apr;48(4):921-3. No abstract available. PMID: 10102714

31: Lemm I, Lingott A, Pogge v Strandmann E, Zoidl C, Bulman MP, Hattersley AT, Schulz WA, Ebert T, Ryffel GU.

Loss of HNF1alpha function in human renal cell carcinoma: frequent mutations in the VHL gene but not the HNF1alpha gene. Mol Carcinog. 1999 Apr;24(4):305-14. PMID: 10326868

30: Tack CJ, Hattersley AT.

[A Dutch family with an autosomal dominant form of diabetes mellitus as a result of a mutation in the HNF1 alpha-gene (MODY3)]. Ned Tijdschr Geneeskd. 1998 Oct 10;142(41):2252-6. Dutch. PMID: 9864503

29: Beards F, Frayling T, Bulman M, Horikawa Y, Allen L, Appleton M, Bell GI, Ellard S, Hattersley AT.

Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes. 1998 Jul;47(7):1152-4. Review. No abstract available. PMID: 9648841

28: Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S.

Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet. 1998 Jul;19(3):268-70. PMID: 9662401

27: Frayling T, Ellard S, Grove J, Walker M, Hattersley AT.

C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes. Lancet. 1998 Jun 27;351(9120):1933-4. No abstract available. PMID: 9654270

26: Matyka KA, Beards F, Appleton M, Ellard S, Hattersley A, Dunger DB.

Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia. Arch Dis Child. 1998 Jun;78(6):552-4. PMID: 9713013

25: Hattersley AT.

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabet Med. 1998 Jan;15(1):15-24. Review. PMID: 9472859

24: Smith PR, Dronsfield MJ, Mijovic CH, Hattersley AT, Yeung VT, Cockram C, Chan JC, Barnett AH, Bain SC.

The mitochondrial tRNA[Leu(UUR)] A to G 3243 mutation is associated with insulin-dependent and non-insulin-dependent diabetes in a Chinese population. Diabet Med. 1997 Dec;14(12):1026-31. PMID: 9455929

23: Frayling TM, Bulman MP, Appleton M, Hattersley AT, Ellard S.

A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. Hum Genet. 1997 Dec;101(3):351-4. PMID: 9439666

22: Hattersley AT, Clark PM, Page R, Levy JC, Cox L, Hales CN, Turner RC.

Glucokinase deficiency results in a beta-cell disorder characterised by normal fasting plasma proinsulin concentrations. Diabetologia. 1997 Nov;40(11):1367-8. No abstract available. PMID: 9389434

21: Bulman MP, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S, Hattersley AT.

A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. Diabetologia. 1997 Jul;40(7):859-62. PMID: 9243109

20: Frayling TM, Bulamn MP, Ellard S, Appleton M, Dronsfield MJ, Mackie AD, Baird JD, Kaisaki PJ, Yamagata K, Bell GI, Bain SC, Hattersley AT.

Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes. 1997 Apr;46(4):720-5. PMID: 9075818

19: Hattersley AT.

Genes versus environment in insulin-dependent diabetes: the phoney war. Lancet. 1997 Jan 18;349(9046):147-8. No abstract available. PMID: 9111533

18: Saker PJ, Hattersley AT, Barrow B, Hammersley MS, Horton V, Gillmer MD, Turner RC.

UKPDS 21: low prevalence of the mitochondrial transfer RNA gene (tRNA(Leu(UUR))) mutation at position 3243bp in UK Caucasian type 2 diabetic patients. Diabet Med. 1997 Jan;14(1):42-5. PMID: 9017352

17: Parry EM, Ballantine JA, Ellard S, Evans WE, Jones C, Kilic N, Lewis RI.

Biomonitoring study of a group of workers potentially exposed to traffic fumes. Environ Mol Mutagen. 1997;30(2):119-30. PMID: 9329636

16: Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI, et al.

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature. 1996 Dec 5;384(6608):455-8. PMID: 8945470

15: Doherty AT, Ellard S, Parry EM, Parry JM.

A study of the aneugenic activity of trichlorfon detected by centromere-specific probes in human lymphoblastoid cell lines. Mutat Res. 1996 Dec;372(2):221-31. PMID: 9015141

14: Byrne MM, Sturis J, Menzel S, Yamagata K, Fajans SS, Dronsfield MJ, Bain SC, Hattersley AT, Velho G, Froguel P, Bell GI, Polonsky KS.

Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes. 1996 Nov;45(11):1503-10. PMID: 8866553

13: Saker PJ, Hattersley AT, Barrow B, Hammersley MS, McLellan JA, Lo YM, Olds RJ, Gillmer MD, Holman RR, Turner RC.

High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population. Diabetologia. 1996 Nov;39(11):1325-8. PMID: 8932999

12: Ellard S, Toper S, Stemp G, Parry EM, Wilcox P, Parry JM.

A comparison of conventional metaphase analysis of Giemsa-stained chromosomes with multi-colour fluorescence in situ hybridization analysis to detect chromosome aberrations induced by daunomycin. Mutagenesis. 1996 Nov;11(6):537-46. PMID: 8962422

11: Hattersley AT.

Influence of misleading publications on general practitioners and purchasers. Lancet. 1996 Aug 3;348(9023):343-4. No abstract available. PMID: 8709719

10: Parry JM, Parry EM, Bourner R, Doherty A, Ellard S, O'Donovan J, Hoebee B, de Stoppelaar JM, Mohn GR, Onfelt A, Renglin A, Schultz N, Soderpalm-Berndes C, Jensen KG, Kirsch-Volders M, Elhajouji A, Van Hummelen P, Degrassi F, Antoccia A, Cimini D, Izzo M, Tanzarella C, Adler ID, Kliesch U, Hess P, et al.

The detection and evaluation of aneugenic chemicals. Mutat Res. 1996 Jun 12;353(1-2):11-46. Review. PMID: 8692188

9: Doherty AT, Ellard S, Parry EM, Parry JM.

An investigation into the activation and deactivation of chlorinated hydrocarbons to genotoxins in metabolically competent human cells. Mutagenesis. 1996 May;11(3):247-74. PMID: 8671747

8: Ellard S, James SA, Parry EM, Parry JM.

A genetically engineered V79 cell line SD1 expressing rat CYP2B1 exhibits chromosomal instability at the integration site of the transfected DNA. Mutagenesis. 1995 Nov;10(6):549-54. PMID: 8596476

7: Zhang Y, Warren-Perry M, Saker PJ, Hattersley AT, Mackie AD, Baird JD, Greenwood RH, Stoffel M, Bell GI, Turner RC.

Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase. Diabetologia. 1995 Sep;38(9):1055-60. PMID: 8591819

6: Clark A, de Koning EJ, Hattersley AT, Hansen BC, Yajnik CS, Poulton J.

Pancreatic pathology in non-insulin dependent diabetes (NIDDM). Diabetes Res Clin Pract. 1995 Aug;28 Suppl:S39-47. Review. PMID: 8529518

5: McLellan JA, Barrow BA, Levy JC, Hammersley MS, Hattersley AT, Gillmer MD, Turner RC.

Prevalence of diabetes mellitus and impaired glucose tolerance in parents of women with gestational diabetes. Diabetologia. 1995 Jun;38(6):693-8. PMID: 7672491

4: Page RC, Hattersley AT, Levy JC, Barrow B, Patel P, Lo D, Wainscoat JS, Permutt MA, Bell GI, Turner RC.

Clinical characteristics of subjects with a missense mutation in glucokinase. Diabet Med. 1995 Mar;12(3):209-17. PMID: 7758256

3: Meeran K, Hattersley A, Burrin J, Shiner R, Ibbertson K.

Oral and inhaled corticosteroids reduce bone formation as shown by plasma osteocalcin levels. Am J Respir Crit Care Med. 1995 Feb;151(2 Pt 1):333-6. PMID: 7842187

2: Turner RC, Hattersley AT, Shaw JT, Levy JC.

Type II diabetes: clinical aspects of molecular biological studies. Diabetes. 1995 Jan;44(1):1-10. Review. PMID: 7813802

1: Ellard S, Parry EM, Parry JM.

Use of multicolour chromosome painting to identify chromosomal rearrangements in human lymphocytes exposed to bleomycin: a comparison with conventional cytogenetic analysis of Giemsa-stained chromosomes. Environ Mol Mutagen. 1995;26(1):44-54. PMID: 7543844