Nestorowicz A - Search Results

1

Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.

Thornton PS, Satin-Smith MS, Herold K, Glaser B, Chiu KC, Nestorowicz A, Permutt MA, Baker L, Stanley CA. Thornton PS, et al. Among authors: nestorowicz a. J Pediatr. 1998 Jan;132(1):9-14. doi: 10.1016/s0022-3476(98)70477-9. J Pediatr. 1998. PMID: 9469993

2

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.

Glaser B, Chiu KC, Liu L, Anker R, Nestorowicz A, Cox NJ, Landau H, Kaiser N, Thornton PS, Stanley CA, et al. Glaser B, et al. Among authors: nestorowicz a. Hum Mol Genet. 1995 May;4(5):879-86. doi: 10.1093/hmg/4.5.879. Hum Mol Genet. 1995. PMID: 7633448

3

Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene.

Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z, Kaiser N, Thornton PS, Stanley CA, et al. Glaser B, et al. Among authors: nestorowicz a. Nat Genet. 1994 Jun;7(2):185-8. doi: 10.1038/ng0694-185. Nat Genet. 1994. PMID: 7920639

4

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. Diabetes. 1997 Nov;46(11):1743-8. doi: 10.2337/diab.46.11.1743. Diabetes. 1997. PMID: 9356020

5

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. Hum Mol Genet. 1998 Jul;7(7):1119-28. doi: 10.1093/hmg/7.7.1119. Hum Mol Genet. 1998. PMID: 9618169

6

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. Hum Mol Genet. 1996 Nov;5(11):1813-22. doi: 10.1093/hmg/5.11.1813. Hum Mol Genet. 1996. PMID: 8923011

7

Hyperinsulinism: molecular aetiology of focal disease.

Ryan F, Devaney D, Joyce C, Nestorowicz A, Permutt MA, Glaser B, Barton DE, Thornton PS. Ryan F, et al. Among authors: nestorowicz a. Arch Dis Child. 1998 Nov;79(5):445-7. doi: 10.1136/adc.79.5.445. Arch Dis Child. 1998. PMID: 10193261 Free PMC article.

8

Genetics of type II diabetes.

Permutt MA, Chiu K, Ferrer J, Glaser B, Inoue H, Nestorowicz A, Stanley CA, Tanizawa Y. Permutt MA, et al. Among authors: nestorowicz a. Recent Prog Horm Res. 1998;53:201-16. Recent Prog Horm Res. 1998. PMID: 9769709 Review.

9

Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1.

Ayyagari R, Nestorowicz A, Li Y, Chandrasekharappa S, Chinault C, van Tuinen P, Smith RJ, Hejtmancik JF, Permutt MA. Ayyagari R, et al. Among authors: nestorowicz a. Genome Res. 1996 Jun;6(6):504-14. doi: 10.1101/gr.6.6.504. Genome Res. 1996. PMID: 8828039 Free article.

10

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: nestorowicz a. Diabetes. 1996 Feb;45(2):262-6. doi: 10.2337/diab.45.2.262. Diabetes. 1996. PMID: 8549872

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