Permutt MA - Search Results

1

Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity.

Chen H, Jawahar S, Qian Y, Duong Q, Chan G, Parker A, Meyer JM, Moore KJ, Chayen S, Gross DJ, Glaser B, Permutt MA, Fricker LD. Chen H, et al. Among authors: permutt ma. Hum Mutat. 2001 Aug;18(2):120-31. doi: 10.1002/humu.1161. Hum Mutat. 2001. PMID: 11462236

2

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.

Glaser B, Furth J, Stanley CA, Baker L, Thornton PS, Landau H, Permutt MA. Glaser B, et al. Among authors: permutt ma. Hum Mutat. 1999;14(1):23-9. doi: 10.1002/(SICI)1098-1004(1999)14:1<23::AID-HUMU3>3.0.CO;2-#. Hum Mutat. 1999. PMID: 10447255

3

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.

4

A genome scan for type 2 diabetes susceptibility loci in a genetically isolated population.

Permutt MA, Wasson JC, Suarez BK, Lin J, Thomas J, Meyer J, Lewitzky S, Rennich JS, Parker A, DuPrat L, Maruti S, Chayen S, Glaser B. Permutt MA, et al. Diabetes. 2001 Mar;50(3):681-5. doi: 10.2337/diabetes.50.3.681. Diabetes. 2001. PMID: 11246891

5

Dinucleotide repeat polymorphism at the human CCKBR locus.

Glaser B, Anker R, Chiu KC, Donis-Keller H, Permutt MA. Glaser B, et al. Among authors: permutt ma. Hum Mol Genet. 1994 Nov;3(11):2081. Hum Mol Genet. 1994. PMID: 7874137 No abstract available.

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

Mapping of the human insulin receptor substrate-2 gene, identification of a linked polymorphic marker and linkage analysis in families with Type II diabetes: no evidence for a major susceptibility role.

Kalidas K, Wasson J, Glaser B, Meyer JM, Duprat LJ, White MF, Permutt MA. Kalidas K, et al. Among authors: permutt ma. Diabetologia. 1998 Nov;41(11):1389-91. doi: 10.1007/s001250051081. Diabetologia. 1998. PMID: 9833949

8

Isolation and characterization of the human AKT1 gene, identification of 13 single nucleotide polymorphisms (SNPs), and their lack of association with Type II diabetes.

Matsubara A, Wasson JC, Donelan SS, Welling CM, Glaser B, Permutt MA. Matsubara A, et al. Among authors: permutt ma. Diabetologia. 2001 Jul;44(7):910-3. doi: 10.1007/s001250100577. Diabetologia. 2001. PMID: 11508278

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

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

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