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    Results: 1 to 20 of 555

    1.

    Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

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

    Diabetes. 2008 Jun;57(6):1659-63. Epub 2008 Feb 11.PMID: 18268044 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    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

    3.

    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]Related articles

    4.

    Mutations in MODY genes are not common cause of early-onset type 2 diabetes in Mexican families.

    Domínguez-López A, Miliar-García A, Segura-Kato YX, Riba L, Esparza-López R, Ramírez-Jiménez S, Rodríguez-Torres M, Canizales-Quinteros S, Cabrera-Vásquez S, Fragoso-Ontiveros V, Aguilar-Salinas CA, Altamirano-Bustamante N, Calzada-León R, Robles-Valdés C, Bravo-Ríos LE, Tusié-Luna MT.

    JOP. 2005 May 10;6(3):238-45.PMID: 15883474 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    A novel -192c/g mutation in the proximal P2 promoter of the hepatocyte nuclear factor-4 alpha gene (HNF4A) associates with late-onset diabetes.

    Ek J, Hansen SP, Lajer M, Nicot C, Boesgaard TW, Pruhova S, Johansen A, Albrechtsen A, Yderstraede K, Lauenborg J, Parrizas M, Boj SF, Jørgensen T, Borch-Johnsen K, Damm P, Ferrer J, Lebl J, Pedersen O, Hansen T.

    Diabetes. 2006 Jun;55(6):1869-73.PMID: 16731855 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).

    Fajans SS, Bell GI.

    Diabetologia. 2007 Dec;50(12):2600-1. Epub 2007 Sep 22. No abstract available. PMID: 17891372 [PubMed - indexed for MEDLINE]Related articles

    7.

    Triple genetic variation in the HNF-4alpha gene is associated with early-onset type 2 diabetes mellitus in a philippino family.

    Gragnoli C, Menzinger Von Preussenthal G, Habener JF.

    Metabolism. 2004 Aug;53(8):959-63.PMID: 15281001 [PubMed - indexed for MEDLINE]Related articles

    8.

    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

    9.

    A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry.

    Raeder H, Bjørkhaug L, Johansson S, Mangseth K, Sagen JV, Hunting A, Følling I, Johansen O, Bjørgaas M, Paus PN, Søvik O, Molven A, Njølstad PR.

    Diabetes. 2006 Jun;55(6):1899-903.PMID: 16731861 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

    Gloyn AL.

    Hum Mutat. 2003 Nov;22(5):353-62. Review.PMID: 14517946 [PubMed - indexed for MEDLINE]Related articles

    11.

    Identification of new mutations in the hepatocyte nuclear factor 4alpha gene among families with early onset Type 2 diabetes mellitus.

    Malecki MT, Yang Y, Antonellis A, Curtis S, Warram JH, Krolewski AS.

    Diabet Med. 1999 Mar;16(3):193-200.PMID: 10227563 [PubMed - indexed for MEDLINE]Related articles

    12.

    Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.

    Nishigori H, Tomura H, Tonooka N, Kanamori M, Yamada S, Sho K, Inoue I, Kikuchi N, Onigata K, Kojima I, Kohama T, Yamagata K, Yang Q, Matsuzawa Y, Miki T, Seino S, Kim MY, Choi HS, Lee YK, Moore DD, Takeda J.

    Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):575-80. Epub 2001 Jan 2.PMID: 11136233 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    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

    14.

    Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.

    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.

    Kidney Int. 2000 Mar;57(3):898-907.PMID: 10720943 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Identification of three new mutations of the HNF-1 alpha gene in Japanese MODY families.

    Ikema T, Shimajiri Y, Komiya I, Tawata M, Sunakawa S, Yogi H, Shimabukuro M, Takasu N.

    Diabetologia. 2002 Dec;45(12):1713-8. Epub 2002 Nov 12.PMID: 12488962 [PubMed - indexed for MEDLINE]Related articles

    16.

    The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.

    Harries LW, Locke JM, Shields B, Hanley NA, Hanley KP, Steele A, Njølstad PR, Ellard S, Hattersley AT.

    Diabetes. 2008 Jun;57(6):1745-52. Epub 2008 Mar 20.PMID: 18356407 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    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

    18.

    Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

    Cuesta-Muñoz AL, Huopio H, Otonkoski T, Gomez-Zumaquero JM, Näntö-Salonen K, Rahier J, López-Enriquez S, García-Gimeno MA, Sanz P, Soriguer FC, Laakso M.

    Diabetes. 2004 Aug;53(8):2164-8.PMID: 15277402 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    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.

    Gloyn AL, Ellard S, Shepherd M, Howell RT, Parry EM, Jefferson A, Levy ER, Hattersley AT.

    Diabetes. 2002 Jul;51(7):2329-33.PMID: 12086970 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene.

    Højlund K, Hansen T, Lajer M, Henriksen JE, Levin K, Lindholm J, Pedersen O, Beck-Nielsen H.

    Diabetes. 2004 Jun;53(6):1592-8.PMID: 15161766 [PubMed - indexed for MEDLINE]Related articlesFree article

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