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Items: 1 to 20 of 301

1.

Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.

Hansen T, Eiberg H, Rouard M, Vaxillaire M, Møller AM, Rasmussen SK, Fridberg M, Urhammer SA, Holst JJ, Almind K, Echwald SM, Hansen L, Bell GI, Pedersen O.

Diabetes. 1997 Apr;46(4):726-30.

PMID:
9075819
2.

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
3.

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
4.

Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1alpha mutation carriers.

Sagen JV, Pearson ER, Johansen A, Spyer G, Søvik O, Pedersen O, Njølstad PR, Hattersley AT, Hansen T.

Diabet Med. 2005 Apr;22(4):406-9.

PMID:
15787664
5.

beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.

Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT.

Diabetes. 2001 Feb;50 Suppl 1:S101-7.

6.
7.

Glucose utilization and production in patients with maturity-onset diabetes of the young caused by a mutation of the hepatocyte nuclear factor-1alpha gene.

Surmely JF, Guenat E, Philippe J, Dussoix P, Schneiter P, Temler E, Vaxillaire M, Froguel P, Jéquier E, Tappy L.

Diabetes. 1998 Sep;47(9):1459-63.

PMID:
9726235
8.

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
9.

A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene.

Menzel R, Kaisaki PJ, Rjasanowski I, Heinke P, Kerner W, Menzel S.

Diabet Med. 1998 Oct;15(10):816-20.

PMID:
9796880
10.

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
11.
12.

Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations.

Pearson ER, Badman MK, Lockwood CR, Clark PM, Ellard S, Bingham C, Hattersley AT.

Diabetes Care. 2004 May;27(5):1102-7.

PMID:
15111528
13.

Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1alpha gene in a Korean family with MODY3.

Kim KA, Kang K, Chi YI, Chang I, Lee MK, Kim KW, Shoelson SE, Lee MS.

Diabetologia. 2003 May;46(5):721-7. Epub 2003 Apr 24.

PMID:
12712243
14.

Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.

Yoshiuchi I, Yamagata K, Yang Q, Iwahashi H, Okita K, Yamamoto K, Oue T, Imagawa A, Hamaguchi T, Yamasaki T, Horikawa Y, Satoh T, Nakajima H, Miyazaki J, Higashiyama S, Miyagawa J, Namba M, Hanafusa T, Matsuzawa Y.

Diabetologia. 1999 May;42(5):621-6.

PMID:
10333057
15.
16.

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI.

Nature. 1996 Dec 5;384(6608):458-60.

17.

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
18.

MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1.

Kristinsson SY, Thorolfsdottir ET, Talseth B, Steingrimsson E, Thorsson AV, Helgason T, Hreidarsson AB, Arngrimsson R.

Diabetologia. 2001 Nov;44(11):2098-103.

PMID:
11719843
19.

Variants in the hepatocyte nuclear factor-1alpha and -4alpha genes in Finnish and Chinese subjects with late-onset type 2 diabetes.

Rissanen J, Wang H, Miettinen R, Kärkkäinen P, Kekäläinen P, Mykkänen L, Kuusisto J, Karhapää P, Niskanen L, Uusitupa M, Laakso M.

Diabetes Care. 2000 Oct;23(10):1533-8.

20.

Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.

Chèvre JC, Hani EH, Boutin P, Vaxillaire M, Blanché H, Vionnet N, Pardini VC, Timsit J, Larger E, Charpentier G, Beckers D, Maes M, Bellanné-Chantelot C, Velho G, Froguel P.

Diabetologia. 1998 Sep;41(9):1017-23.

PMID:
9754819

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