Xia XJ - Search Results

1

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. Among authors: xia xj. Hum Mol Genet. 1996 Apr;5(4):497-502. doi: 10.1093/hmg/5.4.497. Hum Mol Genet. 1996. PMID: 8845842

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: xia xj. Hum Mol Genet. 2000 Jan 1;9(1):63-7. doi: 10.1093/hmg/9.1.63. Hum Mol Genet. 2000. PMID: 10587579

3

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: xia xj. Clin Genet. 2001 Apr;59(4):269-73. doi: 10.1034/j.1399-0004.2001.590409.x. Clin Genet. 2001. PMID: 11298683

4

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: xia xj. Hum Genet. 2001 May;108(5):385-9. doi: 10.1007/s004390100507. Hum Genet. 2001. PMID: 11409864

5

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: xia xj. Hum Mol Genet. 2001 Dec 1;10(25):2945-51. doi: 10.1093/hmg/10.25.2945. Hum Mol Genet. 2001. PMID: 11741837

6

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ. Ouyang XM, et al. Among authors: xia xj. Hum Genet. 2002 Jul;111(1):26-30. doi: 10.1007/s00439-002-0736-0. Epub 2002 Jun 18. Hum Genet. 2002. PMID: 12136232

7

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.

8

Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.

Blanton SH, Pandya A, Landa BL, Javaheri R, Xia X, Nance WE, Pomponio RJ, Norrgard KJ, Swango KL, Demirkol M, Gülden H, Coskun T, Tokatli A, Ozalp I, Wolf B. Blanton SH, et al. Hum Hered. 2000 Mar-Apr;50(2):102-11. doi: 10.1159/000022897. Hum Hered. 2000. PMID: 10799968

9

Implications of molecular diagnostic testing in families with hereditary pancreatitis.

Pandya A, Xia XJ, Blanton SH, Landa B, Markello T, Nance WE. Pandya A, et al. Among authors: xia xj. Genet Test. 1997-1998;1(3):207-11. doi: 10.1089/gte.1997.1.207. Genet Test. 1997. PMID: 10464647

10

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: xia xj. 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.

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