Pandya A - Search Results

1

Chudley-McCullough syndrome: expanded phenotype and review of the literature.

Welch KO, Tekin M, Nance WE, Blanton SH, Arnos KS, Pandya A. Welch KO, et al. Among authors: pandya a. Am J Med Genet A. 2003 May 15;119A(1):71-6. doi: 10.1002/ajmg.a.10180. Am J Med Genet A. 2003. PMID: 12707963

2

Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.

Welch KO, Marin RS, Pandya A, Arnos KS. Welch KO, et al. Among authors: pandya a. Am J Med Genet A. 2007 Jul 15;143A(14):1567-73. doi: 10.1002/ajmg.a.31701. Am J Med Genet A. 2007. PMID: 17431919 Review.

3

A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.

Arnos KS, Welch KO, Tekin M, Norris VW, Blanton SH, Pandya A, Nance WE. Arnos KS, et al. Among authors: pandya a. Am J Hum Genet. 2008 Aug;83(2):200-7. doi: 10.1016/j.ajhg.2008.07.001. Epub 2008 Jul 24. Am J Hum Genet. 2008. PMID: 18656178 Free PMC article.

4

Education in the genetics of hearing loss: a survey of early hearing detection and intervention programs.

Burton SK, Blanton SH, Culpepper B, White KR, Pandya A, Nance WE, Arnos KS. Burton SK, et al. Among authors: pandya a. Genet Med. 2006 Aug;8(8):510-7. doi: 10.1097/01.gim.0000232462.55966.92. Genet Med. 2006. PMID: 16912582 Free article.

5

Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness.

Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, Pandya A. Norris VW, et al. Among authors: pandya a. Ear Hear. 2006 Dec;27(6):732-41. doi: 10.1097/01.aud.0000240492.78561.d3. Ear Hear. 2006. PMID: 17086082

6

A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness.

Burton SK, Withrow K, Arnos KS, Kalfoglou AL, Pandya A. Burton SK, et al. Among authors: pandya a. Genet Med. 2006 Dec;8(12):779-83. doi: 10.1097/01.gim.0000250501.59830.ff. Genet Med. 2006. PMID: 17172941 Free article.

7

Vestibular dysfunction in DFNB1 deafness.

Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS. Dodson KM, et al. Among authors: pandya a. Am J Med Genet A. 2011 May;155A(5):993-1000. doi: 10.1002/ajmg.a.33828. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465647 Free PMC article.

8

GPSM2 mutations in Chudley-McCullough syndrome.

Diaz-Horta O, Sirmaci A, Doherty D, Nance W, Arnos K, Pandya A, Tekin M. Diaz-Horta O, et al. Among authors: pandya a. Am J Med Genet A. 2012 Nov;158A(11):2972-3. doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14. Am J Med Genet A. 2012. PMID: 22987632 Free PMC article. No abstract available.

9

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.

Tekin M, Arnos KS, Xia XJ, Oelrich MK, Liu XZ, Nance WE, Pandya A. Tekin M, et al. Among authors: pandya a. Clin Genet. 2001 Apr;59(4):269-73. doi: 10.1034/j.1399-0004.2001.590409.x. Clin Genet. 2001. PMID: 11298683

10

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE. Pandya A, et al. Genet Med. 2003 Jul-Aug;5(4):295-303. doi: 10.1097/01.GIM.0000078026.01140.68. Genet Med. 2003. PMID: 12865758

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