Permutt MA - Search Results

1

Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.

Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG. Shyng SL, et al. Among authors: permutt ma. Diabetes. 1998 Jul;47(7):1145-51. doi: 10.2337/diabetes.47.7.1145. Diabetes. 1998. PMID: 9648840

2

Diabetes and insulin secretion: the ATP-sensitive K+ channel (K ATP) connection.

Koster JC, Permutt MA, Nichols CG. Koster JC, et al. Among authors: permutt ma. Diabetes. 2005 Nov;54(11):3065-72. doi: 10.2337/diabetes.54.11.3065. Diabetes. 2005. PMID: 16249427 Review.

3

Adenosine diphosphate as an intracellular regulator of insulin secretion.

Nichols CG, Shyng SL, Nestorowicz A, Glaser B, Clement JP 4th, Gonzalez G, Aguilar-Bryan L, Permutt MA, Bryan J. Nichols CG, et al. Among authors: permutt ma. Science. 1996 Jun 21;272(5269):1785-7. doi: 10.1126/science.272.5269.1785. Science. 1996. PMID: 8650576

4

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP 4th, Bryan J, Aguilar-Bryan L, Permutt MA. Nestorowicz A, et al. Among authors: permutt ma. Hum Mol Genet. 1996 Nov;5(11):1813-22. doi: 10.1093/hmg/5.11.1813. Hum Mol Genet. 1996. PMID: 8923011

5

A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.

Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S, Permutt MA. Nestorowicz A, et al. Among authors: permutt ma. Diabetes. 1997 Nov;46(11):1743-8. doi: 10.2337/diab.46.11.1743. Diabetes. 1997. PMID: 9356020

6

Genetic heterogeneity in familial hyperinsulinism.

Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley CA, Thornton PS, Permutt MA. Nestorowicz A, et al. Among authors: permutt ma. Hum Mol Genet. 1998 Jul;7(7):1119-28. doi: 10.1093/hmg/7.7.1119. Hum Mol Genet. 1998. PMID: 9618169

7

Mitochondrial glycerol-3-phosphate dehydrogenase. Cloning of an alternatively spliced human islet-cell cDNA, tissue distribution, physical mapping, and identification of a polymorphic genetic marker.

Ferrer J, Aoki M, Behn P, Nestorowicz A, Riggs A, Permutt MA. Ferrer J, et al. Among authors: permutt ma. Diabetes. 1996 Feb;45(2):262-6. doi: 10.2337/diab.45.2.262. Diabetes. 1996. PMID: 8549872

8

Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians.

Inoue H, Ferrer J, Welling CM, Elbein SC, Hoffman M, Mayorga R, Warren-Perry M, Zhang Y, Millns H, Turner R, Province M, Bryan J, Permutt MA, Aguilar-Bryan L. Inoue H, et al. Among authors: permutt ma. Diabetes. 1996 Jun;45(6):825-31. doi: 10.2337/diab.45.6.825. Diabetes. 1996. PMID: 8635661

9

Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews.

Behn PS, Wasson J, Chayen S, Smolovitch I, Thomas J, Glaser B, Permutt MA. Behn PS, et al. Among authors: permutt ma. Diabetes. 1998 Jun;47(6):967-9. doi: 10.2337/diabetes.47.6.967. Diabetes. 1998. PMID: 9604876 No abstract available.

10

Isolation and characterization of the human PAX4 gene.

Tao T, Wasson J, Bernal-Mizrachi E, Behn PS, Chayen S, Duprat L, Meyer J, Glaser B, Permutt MA. Tao T, et al. Among authors: permutt ma. Diabetes. 1998 Oct;47(10):1650-3. doi: 10.2337/diabetes.47.10.1650. Diabetes. 1998. PMID: 9753306 No abstract available.

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