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Items: 1 to 20 of 34

1.

Persistent oxidative stress due to absence of uncoupling protein 2 associated with impaired pancreatic beta-cell function.

Pi J, Bai Y, Daniel KW, Liu D, Lyght O, Edelstein D, Brownlee M, Corkey BE, Collins S.

Endocrinology. 2009 Jul;150(7):3040-8. doi: 10.1210/en.2008-1642.

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Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase.

Raeder H, Haldorsen IS, Ersland L, Grüner R, Taxt T, Søvik O, Molven A, Njølstad PR.

Diabetes. 2007 Feb;56(2):444-9.

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Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group..

N Engl J Med. 2006 Aug 3;355(5):467-77.

6.

Mendelian disorders deserve more attention.

Antonarakis SE, Beckmann JS.

Nat Rev Genet. 2006 Apr;7(4):277-82. Review.

PMID:
16534515
7.

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.

Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjørkhaug L, Sagen JV, Aksnes L, Søvik O, Lombardo D, Molven A, Njølstad PR.

Nat Genet. 2006 Jan;38(1):54-62.

PMID:
16369531
8.

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A.

Nat Genet. 2005 Dec;37(12):1345-50. Erratum in: Nat Genet. 2006 Feb;38(2):265. Ekici, Arif B [added].

PMID:
16311597
9.

Modifier loci condition autoimmunity provoked by Aire deficiency.

Jiang W, Anderson MS, Bronson R, Mathis D, Benoist C.

J Exp Med. 2005 Sep 19;202(6):805-15.

10.

Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS.

Nat Genet. 2004 Dec;36(12):1301-5.

PMID:
15543146
11.

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Søvik O, Njølstad PR.

Diabetes. 2004 Oct;53(10):2713-8.

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A novel, noninvasive method for the measurement of intestinal fat absorption.

Jandacek RJ, Heubi JE, Tso P.

Gastroenterology. 2004 Jul;127(1):139-44.

PMID:
15236180
13.

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
15.

Variation in type 2 diabetes--related traits in mouse strains susceptible to diet-induced obesity.

Rossmeisl M, Rim JS, Koza RA, Kozak LP.

Diabetes. 2003 Aug;52(8):1958-66.

16.

Hepatocyte nuclear factor 4alpha controls the development of a hepatic epithelium and liver morphogenesis.

Parviz F, Matullo C, Garrison WD, Savatski L, Adamson JW, Ning G, Kaestner KH, Rossi JM, Zaret KS, Duncan SA.

Nat Genet. 2003 Jul;34(3):292-6.

PMID:
12808453
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beta-cell-specific deletion of the Igf1 receptor leads to hyperinsulinemia and glucose intolerance but does not alter beta-cell mass.

Kulkarni RN, Holzenberger M, Shih DQ, Ozcan U, Stoffel M, Magnuson MA, Kahn CR.

Nat Genet. 2002 May;31(1):111-5.

PMID:
11923875
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