Pandya A - Search Results

1

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R. Amr S, et al. Among authors: pandya a. Am J Hum Genet. 2007 Oct;81(4):673-83. doi: 10.1086/520961. Epub 2007 Aug 20. Am J Hum Genet. 2007. PMID: 17846994 Free PMC article.

2

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.

Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE. Liu XZ, et al. Among authors: pandya a. Hum Mol Genet. 2000 Jan 1;9(1):63-7. doi: 10.1093/hmg/9.1.63. Hum Mol Genet. 2000. PMID: 10587579

3

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.

Tekin M, Akar N, Cin S, Blanton SH, Xia XJ, Liu XZ, Nance WE, Pandya A. Tekin M, et al. Among authors: pandya a. Hum Genet. 2001 May;108(5):385-9. doi: 10.1007/s004390100507. Hum Genet. 2001. PMID: 11409864

4

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.

Liu XZ, Xia XJ, Adams J, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE. Liu XZ, et al. Among authors: pandya a. Hum Mol Genet. 2001 Dec 1;10(25):2945-51. doi: 10.1093/hmg/10.25.2945. Hum Mol Genet. 2001. PMID: 11741837

5

The clinical and audiologic features of hearing loss due to mitochondrial mutations.

Yelverton JC, Arnos K, Xia XJ, Nance WE, Pandya A, Dodson KM. Yelverton JC, et al. Among authors: pandya a. Otolaryngol Head Neck Surg. 2013 Jun;148(6):1017-22. doi: 10.1177/0194599813482705. Epub 2013 Mar 22. Otolaryngol Head Neck Surg. 2013. PMID: 23525847

6

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

7

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?

Pandya A, Xia XJ, Landa BL, Arnos KS, Israel J, Lloyd J, James AL, Diehl SR, Blanton SH, Nance WE. Pandya A, et al. Hum Mol Genet. 1996 Apr;5(4):497-502. doi: 10.1093/hmg/5.4.497. Hum Mol Genet. 1996. PMID: 8845842

8

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.

Tekin M, Xia XJ, Erdenetungalag R, Cengiz FB, White TW, Radnaabazar J, Dangaasuren B, Tastan H, Nance WE, Pandya A. Tekin M, et al. Among authors: pandya a. Ann Hum Genet. 2010 Mar;74(2):155-64. doi: 10.1111/j.1469-1809.2010.00564.x. Epub 2010 Jan 27. Ann Hum Genet. 2010. PMID: 20201936 Free PMC article.

9

Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.

Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, Nance WE. Pandya A, et al. J Med Genet. 1997 Feb;34(2):169-72. doi: 10.1136/jmg.34.2.169. J Med Genet. 1997. PMID: 9039999 Free PMC article.

10

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.

Rymer K, Shiang R, Hsiung A, Pandya A, Bigdeli T, Webb BT, Rhodes J. Rymer K, et al. Among authors: pandya a. Mol Genet Genomic Med. 2019 Jun;7(6):e656. doi: 10.1002/mgg3.656. Epub 2019 Apr 23. Mol Genet Genomic Med. 2019. PMID: 31016899 Free PMC article.

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