Nance WE - Search Results

1

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

Tekin M, Bodurtha JN, Nance WE, Pandya A. Tekin M, et al. Among authors: nance we. Clin Genet. 2001 Oct;60(4):301-4. doi: 10.1034/j.1399-0004.2001.600408.x. Clin Genet. 2001. PMID: 11683776

2

Analysis of variability of clinical manifestations in Waardenburg syndrome.

Reynolds JE, Meyer JM, Landa B, Stevens CA, Arnos KS, Israel J, Marazita ML, Bodurtha J, Nance WE, Diehl SR. Reynolds JE, et al. Among authors: nance we. Am J Med Genet. 1995 Jul 17;57(4):540-7. doi: 10.1002/ajmg.1320570405. Am J Med Genet. 1995. PMID: 7573125

3

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: nance we. Hum Mol Genet. 1996 Apr;5(4):497-502. doi: 10.1093/hmg/5.4.497. Hum Mol Genet. 1996. PMID: 8845842

4

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

5

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

6

Haplotype analysis of the USH1D locus and genotype-phenotype correlations.

Liu XZ, Blanton SH, Bitner-Glindzicz M, Pandya A, Landa B, MacArdle B, Rajput K, Bellman S, Webb BT, Ping X, Smith RJ, Nance WE. Liu XZ, et al. Among authors: nance we. Clin Genet. 2001 Jul;60(1):58-62. doi: 10.1034/j.1399-0004.2001.600109.x. Clin Genet. 2001. PMID: 11531971

7

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

8

Ascertainment of families with hereditary deafness for linkage studies. Waardenburg and Usher syndromes.

Stevens C, Arnos K, Bodurtha J, Wright L, Rawlings B, Marazita M, Nance W, Diehl S. Stevens C, et al. Ann N Y Acad Sci. 1991;630:293-4. doi: 10.1111/j.1749-6632.1991.tb19610.x. Ann N Y Acad Sci. 1991. PMID: 1952611 No abstract available.

9

Evidence for a major gene in familial anencephaly.

Shaffer LG, Marazita ML, Bodurtha J, Newlin A, Nance WE. Shaffer LG, et al. Among authors: nance we. Am J Med Genet. 1990 May;36(1):97-101. doi: 10.1002/ajmg.1320360119. Am J Med Genet. 1990. PMID: 2333913

10

Femoral duplication: a case report.

Bodurtha J, Coutinho M, Benator R, Nogi J, Sholley M, Nance WE. Bodurtha J, et al. Among authors: nance we. Am J Med Genet. 1989 Jun;33(2):165-9. doi: 10.1002/ajmg.1320330204. Am J Med Genet. 1989. PMID: 2764024

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