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Items: 1 to 20 of 111

1.

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.

SIGMA Type 2 Diabetes Consortium, Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, García-Ortiz H, Huerta-Chagoya A, Moreno-Macías H, Walford G, Flannick J, Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A, Jiménez-Morales S, Centeno-Cruz F, Mendoza-Caamal E, Revilla-Monsalve C, Islas-Andrade S, Córdova EJ, Soberón X, González-Villalpando ME, Henderson E, Wilkens LR, Le Marchand L, Arellano-Campos O, Ordóñez-Sánchez ML, Rodríguez-Torres M, Rodríguez-Guillén R, Riba L, Najmi LA, Jacobs SB, Fennell T, Gabriel S, Fontanillas P, Hanis CL, Lehman DM, Jenkinson CP, Abboud HE, Bell GI, Cortes ML, Boehnke M, González-Villalpando C, Orozco L, Haiman CA, Tusié-Luna T, Aguilar-Salinas CA, Altshuler D, Njølstad PR, Florez JC, MacArthur DG.

JAMA. 2014 Jun 11;311(22):2305-14. doi: 10.1001/jama.2014.6511. Erratum in: JAMA. 2014 Nov 12:312(18):1932. Jiménez-Morales, Silvia[Added].

2.

Assessing the association of the HNF1A G319S variant with C-reactive protein in Aboriginal Canadians: a population-based epidemiological study.

Ley SH, Hegele RA, Connelly PW, Harris SB, Mamakeesick M, Cao H, Gittelsohn J, Retnakaran R, Zinman B, Hanley AJ.

Cardiovasc Diabetol. 2010 Aug 18;9:39. doi: 10.1186/1475-2840-9-39.

3.

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.

4.

Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation.

Galán M, García-Herrero CM, Azriel S, Gargallo M, Durán M, Gorgojo JJ, Andía VM, Navas MA.

Mol Med. 2011 Mar-Apr;17(3-4):256-65. doi: 10.2119/molmed.2010.00097. Epub 2010 Dec 15.

5.

Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.

Balamurugan K, Bjørkhaug L, Mahajan S, Kanthimathi S, Njølstad PR, Srinivasan N, Mohan V, Radha V.

Clin Genet. 2016 Dec;90(6):486-495. doi: 10.1111/cge.12757. Epub 2016 Mar 4.

PMID:
26853433
6.

Double heterozygous mutations involving both HNF1A/MODY3 and HNF4A/MODY1 genes: a case report.

Forlani G, Zucchini S, Di Rocco A, Di Luzio R, Scipione M, Marasco E, Romeo G, Marchesini G, Mantovani V.

Diabetes Care. 2010 Nov;33(11):2336-8. doi: 10.2337/dc10-0561. Epub 2010 Aug 12.

7.

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Najmi LA, Aukrust I, Flannick J, Molnes J, Burtt N, Molven A, Groop L, Altshuler D, Johansson S, Bjørkhaug L, Njølstad PR.

Diabetes. 2017 Feb;66(2):335-346. doi: 10.2337/db16-0460. Epub 2016 Nov 29.

8.

Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young.

Vesterhus M, Haldorsen IS, Raeder H, Molven A, Njølstad PR.

J Clin Endocrinol Metab. 2008 Sep;93(9):3505-9. doi: 10.1210/jc.2008-0340. Epub 2008 Jul 1.

PMID:
18593771
9.

Identification of four novel mutations in the HNF-1A gene in Chinese early-onset and/or multiplex diabetes pedigrees.

Yang Z, Wu SH, Zheng TS, Lu HJ, Xiang KS.

Chin Med J (Engl). 2006 Jul 5;119(13):1072-8.

PMID:
16834925
10.

The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations.

Tatsi C, Kanaka-Gantenbein C, Vazeou-Gerassimidi A, Chrysis D, Delis D, Tentolouris N, Dacou-Voutetakis C, Chrousos GP, Sertedaki A.

Pediatr Diabetes. 2013 Nov;14(7):526-34. doi: 10.1111/pedi.12032. Epub 2013 Mar 21.

PMID:
23517481
11.

Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene.

Bellanné-Chantelot C, Lévy DJ, Carette C, Saint-Martin C, Riveline JP, Larger E, Valéro R, Gautier JF, Reznik Y, Sola A, Hartemann A, Laboureau-Soares S, Laloi-Michelin M, Lecomte P, Chaillous L, Dubois-Laforgue D, Timsit J; French Monogenic Diabetes Study Group.

J Clin Endocrinol Metab. 2011 Aug;96(8):E1346-51. doi: 10.1210/jc.2011-0268. Epub 2011 Jun 15.

PMID:
21677039
12.

HNF1A G319S variant, active cigarette smoking and incident type 2 diabetes in Aboriginal Canadians: a population-based epidemiological study.

Ley SH, Hegele RA, Harris SB, Mamakeesick M, Cao H, Connelly PW, Gittelsohn J, Retnakaran R, Zinman B, Hanley AJ.

BMC Med Genet. 2011 Jan 5;12:1. doi: 10.1186/1471-2350-12-1.

13.

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 Dec;37(6):512-9. doi: 10.1016/j.diabet.2011.04.002. Epub 2011 Jun 16.

PMID:
21683639
14.

Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young.

Thanabalasingham G, Pal A, Selwood MP, Dudley C, Fisher K, Bingley PJ, Ellard S, Farmer AJ, McCarthy MI, Owen KR.

Diabetes Care. 2012 Jun;35(6):1206-12. doi: 10.2337/dc11-1243. Epub 2012 Mar 19.

15.

HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community.

Triggs-Raine BL, Kirkpatrick RD, Kelly SL, Norquay LD, Cattini PA, Yamagata K, Hanley AJ, Zinman B, Harris SB, Barrett PH, Hegele RA.

Proc Natl Acad Sci U S A. 2002 Apr 2;99(7):4614-9. Epub 2002 Mar 19.

16.

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. doi: 10.1210/jc.2008-2371. Epub 2009 Mar 31.

PMID:
19336507
17.

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. doi: 10.2337/db09-0555. Epub 2009 Sep 30.

18.

Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.

Awa WL, Thon A, Raile K, Grulich-Henn J, Meissner T, Schober E, Holl RW; DPV-Wiss. Study Group.

Eur J Endocrinol. 2011 Apr;164(4):513-20. doi: 10.1530/EJE-10-0842. Epub 2011 Jan 11.

19.

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. doi: 10.1371/journal.pone.0006615.

20.

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.

Thanabalasingham G, Shah N, Vaxillaire M, Hansen T, Tuomi T, Gašperíková D, Szopa M, Tjora E, James TJ, Kokko P, Loiseleur F, Andersson E, Gaget S, Isomaa B, Nowak N, Raeder H, Stanik J, Njolstad PR, Malecki MT, Klimes I, Groop L, Pedersen O, Froguel P, McCarthy MI, Gloyn AL, Owen KR.

Diabetologia. 2011 Nov;54(11):2801-10. doi: 10.1007/s00125-011-2261-y. Epub 2011 Aug 4.

PMID:
21814873

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