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Items: 1 to 20 of 66

1.

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.

Simaite D, Kofent J, Gong M, Rüschendorf F, Jia S, Arn P, Bentler K, Ellaway C, Kühnen P, Hoffmann GF, Blau N, Spagnoli FM, Hübner N, Raile K.

Diabetes. 2014 Oct;63(10):3557-64. doi: 10.2337/db13-1784. Epub 2014 May 21.

2.

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Ferrè S, de Baaij JH, Ferreira P, Germann R, de Klerk JB, Lavrijsen M, van Zeeland F, Venselaar H, Kluijtmans LA, Hoenderop JG, Bindels RJ.

J Am Soc Nephrol. 2014 Mar;25(3):574-86. doi: 10.1681/ASN.2013040337. Epub 2013 Nov 7.

3.
4.

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD.

Am J Hum Genet. 1993 Sep;53(3):768-74.

5.

Co-inheritance of HNF1a and GCK mutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing.

López-Garrido MP, Herranz-Antolín S, Alija-Merillas MJ, Giralt P, Escribano J.

Clin Endocrinol (Oxf). 2013 Sep;79(3):342-7. doi: 10.1111/cen.12050. Epub 2013 Apr 1.

PMID:
23009393
6.

Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having Type I diabetes.

Møller AM, Dalgaard LT, Pociot F, Nerup J, Hansen T, Pedersen O.

Diabetologia. 1998 Dec;41(12):1528-31.

PMID:
9867222
7.

Identification of a new mutation in the hepatocyte nuclear factor-1alpha gene in a Polish family with early-onset type 2 diabetes mellitus.

Malecki MT, Klupa T, Frey J, Cyganek K, Galicka-Stankowska D, Wanic K, Sieradzki J.

Diabetes Nutr Metab. 2001 Oct;14(5):288-91.

PMID:
11806470
8.

Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.

Yorifuji T, Fujimaru R, Hosokawa Y, Tamagawa N, Shiozaki M, Aizu K, Jinno K, Maruo Y, Nagasaka H, Tajima T, Kobayashi K, Urakami T.

Pediatr Diabetes. 2012 Feb;13(1):26-32. doi: 10.1111/j.1399-5448.2011.00827.x. Epub 2011 Nov 8. Erratum in: Pediatr Diabetes. 2013 May;14(3):230.

PMID:
22060211
9.

Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.

Kaisaki PJ, Menzel S, Lindner T, Oda N, Rjasanowski I, Sahm J, Meincke G, Schulze J, Schmechel H, Petzold C, Ledermann HM, Sachse G, Boriraj VV, Menzel R, Kerner W, Turner RC, Yamagata K, Bell GI.

Diabetes. 1997 Mar;46(3):528-35. Erratum in: Diabetes 1997 Jul;46(7):1239.

PMID:
9032114
10.
11.

Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

Ng MC, Cockburn BN, Lindner TH, Yeung VT, Chow CC, So WY, Li JK, Lo YM, Lee ZS, Cockram CS, Critchley JA, Bell GI, Chan JC.

Diabet Med. 1999 Nov;16(11):956-63.

PMID:
10588527
12.

beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.

Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, Hattersley AT.

Diabetes. 2001 Feb;50 Suppl 1:S94-100.

13.

Diagnosis and management of maturity-onset diabetes of the young.

Timsit J, Bellanné-Chantelot C, Dubois-Laforgue D, Velho G.

Treat Endocrinol. 2005;4(1):9-18. Review.

PMID:
15649097
14.

Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).

Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV, Chevre JC, Boccio V, Cox RD, Lathrop GM, Dussoix P, Philippe J, Timsit J, Charpentier G, Velho G, Bell GI, Froguel P.

Hum Mol Genet. 1997 Apr;6(4):583-6.

PMID:
9097962
15.

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

Bellanné-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noël LH, Velho G, Timsit J.

Ann Intern Med. 2004 Apr 6;140(7):510-7.

PMID:
15068978
16.

Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.

Yamada S, Nishigori H, Onda H, Utsugi T, Yanagawa T, Maruyama T, Onigata K, Nagashima K, Nagai R, Morikawa A, Takeuchi T, Takeda J.

Diabetes. 1997 Oct;46(10):1643-7.

PMID:
9313763
17.

Mutations in the hepatocyte nuclear factor-1 alpha gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese.

Nishigori H, Yamada S, Kohama T, Utsugi T, Shimizu H, Takeuchi T, Takeda J.

J Hum Genet. 1998;43(2):107-10.

PMID:
9621514
18.

[Molecular background and clinical characteristics of autosomal dominant type 2 diabetes mellitus].

Małecki M, Krolewski AS.

Przegl Lek. 2000;57 Suppl 3:13-8. Review. Polish.

PMID:
11293229
19.
20.

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.

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