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The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

Bellanné-Chantelot C, Carette C, Riveline JP, Valéro R, Gautier JF, Larger E, Reznik Y, Ducluzeau PH, Sola A, Hartemann-Heurtier A, Lecomte P, Chaillous L, Laloi-Michelin M, Wilhem JM, Cuny P, Duron F, Guerci B, Jeandidier N, Mosnier-Pudar H, Assayag M, Dubois-Laforgue D, Velho G, Timsit J.

Diabetes. 2008 Feb;57(2):503-8. Epub 2007 Nov 14.PMID: 18003757 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

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

Hum Mol Genet. 2006 Jul 15;15(14):2216-24. Epub 2006 Jun 7.PMID: 16760222 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).

Toaima D, Näke A, Wendenburg J, Praedicow K, Rohayem J, Engel K, Galler A, Gahr M, Lee-Kirsch MA.

Hum Mutat. 2005 May;25(5):503-4.PMID: 15841481 [PubMed - indexed for MEDLINE]Related articles

Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young.

Radha V, Ek J, Anuradha S, Hansen T, Pedersen O, Mohan V.

J Clin Endocrinol Metab. 2009 Jun;94(6):1959-65. Epub 2009 Mar 31.PMID: 19336507 [PubMed - indexed for MEDLINE]Related articles

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.

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.

Diabetologia. 2007 Nov;50(11):2313-7. Epub 2007 Sep 8.PMID: 17828387 [PubMed - indexed for MEDLINE]Related articles

Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10.

Elbein SC, Teng K, Yount P, Scroggin E.

J Clin Endocrinol Metab. 1998 Jun;83(6):2059-65.PMID: 9626139 [PubMed - indexed for MEDLINE]Related articlesFree article

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).

McKinney JL, Cao H, Robinson JF, Metzger DL, Cummings E, Riddell DC, Sanderson SR, Pacaud D, Ho J, Hegele RA.

Clin Invest Med. 2004 Jun;27(3):135-41.PMID: 15305805 [PubMed - indexed for MEDLINE]Related articles

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.

Ellard S, Colclough K.

Hum Mutat. 2006 Sep;27(9):854-69.PMID: 16917892 [PubMed - indexed for MEDLINE]Related articles

Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study).

Eide SA, Raeder H, Johansson S, Midthjell K, Søvik O, Njølstad PR, Molven A.

Diabet Med. 2008 Jul;25(7):775-81.PMID: 18513305 [PubMed - indexed for MEDLINE]Related articles

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I, Rica I, Perez de Nanclares G, Bilbao JR, Vazquez JA, San Pedro JI, Busturia MA, Castaño L; Spanish MODY Group.

Clin Endocrinol (Oxf). 2007 Oct;67(4):538-46. Epub 2007 Jun 15.PMID: 17573900 [PubMed - indexed for MEDLINE]Related articles

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

Cao H, Shorey S, Robinson J, Metzger DL, Stewart L, Cummings E, Hegele RA.

Hum Mutat. 2002 Dec;20(6):478-9.PMID: 12442280 [PubMed - indexed for MEDLINE]Related articles

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients.

Xu JY, Dan QH, Chan V, Wat NM, Tam S, Tiu SC, Lee KF, Siu SC, Tsang MW, Fung LM, Chan KW, Lam KS.

Eur J Hum Genet. 2005 Apr;13(4):422-7.PMID: 15657605 [PubMed - indexed for MEDLINE]Related articlesFree article

Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.

Barrio R, Bellanné-Chantelot C, Moreno JC, Morel V, Calle H, Alonso M, Mustieles C.

J Clin Endocrinol Metab. 2002 Jun;87(6):2532-9.PMID: 12050210 [PubMed - indexed for MEDLINE]Related articlesFree article

Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.

Klupa T, Warram JH, Antonellis A, Pezzolesi M, Nam M, Malecki MT, Doria A, Rich SS, Krolewski AS.

Diabetes Care. 2002 Dec;25(12):2292-301.PMID: 12453976 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

Cappelli A, Tumini S, Consoli A, Carinci S, Piersanti C, Ruggiero G, Simonella G, Soletti F, Staffolani P, Pianese L.

Diabetes Res Clin Pract. 2009 Mar;83(3):e72-4. Epub 2009 Jan 15.PMID: 19150152 [PubMed - indexed for MEDLINE]Related articles

Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway.

Bjørkhaug L, Sagen JV, Thorsby P, Søvik O, Molven A, Njølstad PR.

J Clin Endocrinol Metab. 2003 Feb;88(2):920-31.PMID: 12574234 [PubMed - indexed for MEDLINE]Related articlesFree article

A prevalent amino acid polymorphism at codon 98 (Ala98Val) of the hepatocyte nuclear factor-1alpha is associated with maturity-onset diabetes of the young and younger age at onset of type 2 diabetes in Asian Indians.

Anuradha S, Radha V, Deepa R, Hansen T, Carstensen B, Pedersen O, Mohan V.

Diabetes Care. 2005 Oct;28(10):2430-5.PMID: 16186275 [PubMed - indexed for MEDLINE]Related articlesFree article

Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.

Johansen A, Ek J, Mortensen HB, Pedersen O, Hansen T.

J Clin Endocrinol Metab. 2005 Aug;90(8):4607-14. Epub 2005 May 31.PMID: 15928245 [PubMed - indexed for MEDLINE]Related articlesFree article

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

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

PLoS Med. 2007 Apr;4(4):e118.PMID: 17407387 [PubMed - indexed for MEDLINE]Related articlesFree article

Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing.

Miedzybrodzka Z, Hattersley AT, Ellard S, Pearson D, de Silva D, Harvey R, Haites N.

Eur J Hum Genet. 1999 Sep;7(6):729-32.PMID: 10482964 [PubMed - indexed for MEDLINE]Related articlesFree article