23 results for author:"Nance W.E." in Literature citations
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| Etiology of unilateral hearing loss in a national hereditary deafness repository. Dodson K.M., Georgolios A., Barr N., Nguyen B., Sismanis A., Arnos K.S., Norris V.W., Chapman D., Nance W.E., Pandya A. Am J Otolaryngol 33:590-594(2012) · Mapped (4) |
| Vestibular dysfunction in DFNB1 deafness. Dodson K.M., Blanton S.H., Welch K.O., Norris V.W., Nuzzo R.L., Wegelin J.A., Marin R.S., Nance W.E., Pandya A., Arnos K.S. Am. J. Med. Genet. A 155A:993-1000(2011) · Mapped (3) |
| GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Tekin M., Xia X.J., Erdenetungalag R., Cengiz F.B., White T.W., Radnaabazar J., Dangaasuren B., Tastan H., Nance W.E., Pandya A. Ann. Hum. Genet. 74:155-164(2010) · Mapped (3) |
| Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. Choi B.Y., Madeo A.C., King K.A., Zalewski C.K., Pryor S.P., Muskett J.A., Nance W.E., Butman J.A., Brewer C.C., Griffith A.J. J. Med. Genet. 46:856-861(2009) · Mapped (5) |
| Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Choi B.Y., Stewart A.K., Madeo A.C., Pryor S.P., Lenhard S., Kittles R., Eisenman D., Kim H.J., Niparko J., Thomsen J. et al. |
| Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Tekin M., Ozturkmen Akay H., Fitoz S., Birnbaum S., Cengiz F.B., Sennaroglu L., Incesulu A., Yuksel Konuk E.B., Hasanefendioglu Bayrak A., Senturk S. et al. Clin. Genet. 73:554-565(2008) · UniProtKB (1) |
| A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. del Castillo F.J., Rodriguez-Ballesteros M., Alvarez A., Hutchin T., Leonardi E., de Oliveira C.A., Azaiez H., Brownstein Z., Avenarius M.R., Marlin S. et al. J. Med. Genet. 42:588-594(2005) · UniProtKB (2) |
| SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. Pryor S.P., Madeo A.C., Reynolds J.C., Sarlis N.J., Arnos K.S., Nance W.E., Yang Y., Zalewski C.K., Brewer C.C., Butman J.A. et al. J. Med. Genet. 42:159-165(2005) · UniProtKB (1) |
| Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Ouyang X.M., Yan D., Du L.L., Hejtmancik J.F., Jacobson S.G., Nance W.E., Li A.R., Angeli S., Kaiser M., Newton V. et al. |
| Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Del Castillo I., Moreno-Pelayo M.A., Del Castillo F.J., Brownstein Z., Marlin S., Adina Q., Cockburn D.J., Pandya A., Siemering K.R., Chamberlin G.P. et al. Am. J. Hum. Genet. 73:1452-1458(2003) · Mapped (1) |
| Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Yan D., Park H.J., Ouyang X.M., Pandya A., Doi K., Erdenetungalag R., Du L.L., Matsushiro N., Nance W.E., Griffith A.J. et al. Hum. Genet. 114:44-50(2003) · Mapped (3) |
| Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Pandya A., Arnos K.S., Xia X.J., Welch K.O., Blanton S.H., Friedman T.B., Garcia Sanchez G., Liu MD X.Z., Morell R., Nance W.E. Genet. Med. 5:295-303(2003) · Mapped (4) |
| Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Liu X.Z., Ouyang X.M., Xia X.J., Zheng J., Pandya A., Li F., Du L.L., Welch K.O., Petit C., Smith R.J.H. et al. Hum. Mol. Genet. 12:1155-1162(2003) · UniProtKB (1) · Mapped (5) |
| Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. Park H.-J., Shaukat S., Liu X.-Z., Hahn S.H., Naz S., Ghosh M., Kim H.-N., Moon S.-K., Abe S., Tukamoto K. et al. J. Med. Genet. 40:242-248(2003) · UniProtKB (1) |
| The prevalence of connexin 26 ( GJB2) mutations in the Chinese population. Liu X.Z., Xia X.J., Ke X.M., Ouyang X.M., Du L.L., Liu Y.H., Angeli S., Telischi F.F., Nance W.E., Balkany T. et al. Hum. Genet. 111:394-397(2002) · Mapped (3) |
| Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Ouyang X.M., Xia X.J., Verpy E., Du L.L., Pandya A., Petit C., Balkany T., Nance W.E., Liu X.Z. Hum. Genet. 111:26-30(2002) · Mapped (3) |
| Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Zwaenepoel I., Mustapha M., Leibovici M., Verpy E., Goodyear R., Liu X.Z., Nouaille S., Nance W.E., Kanaan M., Avraham K.B. et al. Proc. Natl. Acad. Sci. U.S.A. 99:6240-6245(2002) · UniProtKB (2) · Mapped (11) |
| Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Liu X.Z., Xia X.J., Adams J., Chen Z.Y., Welch K.O., Tekin M., Ouyang X.M., Kristiansen A., Pandya A., Balkany T. et al. Hum. Mol. Genet. 10:2945-2951(2001) · UniProtKB (2) · Mapped (14) |
| Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. Ben-Yosef T., Wattenhofer M., Riazuddin S., Ahmed Z.M., Scott H.S., Kudoh J., Shibuya K., Antonarakis S.E., Bonne-Tamir B., Radhakrishna U. et al. J. Med. Genet. 38:396-400(2001) · UniProtKB (1) |
| 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 S.H., Xia X.J., Liu X.Z., Nance W.E., Pandya A. Hum. Genet. 108:385-389(2001) · Mapped (3) |
| Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Bork J.M., Peters L.M., Riazuddin S., Bernstein S.L., Ahmed Z.M., Ness S.L., Polomeno R., Ramesh A., Schloss M., Srisailpathy C.R.S. et al. Am. J. Hum. Genet. 68:26-37(2001) · UniProtKB (2) · Mapped (12) |
| Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Pandya A., Xia X.J., Erdenetungalag R., Amendola M., Landa B., Radnaabazar J., Dangaasuren B., Van Tuyle G., Nance W.E. Am. J. Hum. Genet. 65:1803-1806(1999) · UniProtKB (1) |
| Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background? Pandya A., Xia X.-J., Landa B.L., Arnos K.S., Israel J., Lloyd J., James A.L., Diehl S.R., Blanton S.H., Nance W.E. Hum. Mol. Genet. 5:497-502(1996) · UniProtKB (1) |