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Hypo-Functional SLC26A4 Variants Associated with Nonsyndromic Hearing Loss and Enlargement of the Vestibular Aqueduct: Genotype-Phenotype Correlation or Coincidental Polymorphisms? Choi, Byung Yoon; Stewart, Andrew K.; Madeo, Anne C.; Pryor, Shannon P.; Lenhard, Suzanne; Kittles, Rick; Eisenman, David; Kim, H. Jeffrey; Niparko, John; Thomsen, James; Arnos, Kathleen S.; Nance, Walter E.; King, Kelly A.; Zalewski, Christopher K.; Brewer, Carmen C.; Shawker, Thomas; Reynolds, James C.; Butman, John A.; Karniski, Lawrence P.; Alper, Seth L.; Griffith, Andrew J. 分享 收藏
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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population Ouyang, XM; Yan, D; Du, LL; Hejtmancik, JF; Jacobson, SG; Nance, WE; Li, AR; Angeli, S; Kaiser, M; Newton, V; Brown, SDM; Balkany, T; Liu, XZ 分享 收藏
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians Yan, D; Park, HJ; Ouyang, XM; Pandya, A; Doi, K; Erdenetungalag, R; Du, LL; Matsushiro, N; Nance, WE; Griffith, AJ; Liu, XZ 分享 收藏
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects:: a multicenter study 听力受损人群中DFNB1位点del(GJB6-D13S1830) 突变的患病率和进化起源: 一项多中心研究 del Castillo, I; Moreno-Pelayo, MA; del Castillo, FJ; Brownstein, Z; Marlin, S; Adina, Q; Cockburn, DJ; Pandya, A; Siemering, KR; Chamberlin, GP; Ballana, E; Wuyts, W; Maciel-Guerra, AT; Alvarez, A; Villamar, M; Shohat, M; Abeliovich, D; Dahl, HHM; Estivill, X; Gasparini, P; Hutchin, T; Nance, WE; Sartorato, EL; Smith, RJH; Van Camp, G; Avraham, KB; Petit, C; Moreno, F 分享 收藏
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; Sanchez, GG; Liu, XZ; Morell, R; Nance, WE 分享 收藏
The prevalence of connexin 26 (GJB2) mutations in the Chinese population Liu, XZ; Xia, XJ; Ke, XM; Ouyang, XM; Du, LL; Liu, YH; Angeli, S; Telischi, FF; Nance, WE; Balkany, T; Xu, LR 分享 收藏
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, XZ; Nouaille, S; Nance, WE; Kanaan, M; Avraham, KB; Tekaia, F; Loiselet, J; Lathrop, M; Richardson, G; Petit, C 分享 收藏
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness Ben-Yosef, T; Wattenhofer, M; Riazuddin, S; Ahmed, ZM; Scot, HS; Kudoh, J; Shibuya, K; Antonarakis, SE; Bonne-Tamir, B; Radhakrishna, U; Naz, S; Ahmed, Z; Riazuddin, S; Pandya, A; Nance, WE; Wilcox, ER; Friedman, TB; Morell, RJ 分享 收藏
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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 Bork, JM; Peters, LM; Riazuddin, S; Bernstein, SL; Ahmed, ZM; Ness, SL; Polomeno, R; Ramesh, A; Schloss, M; Srisailpathy, CRS; Wayne, S; Bellman, S; Desmukh, D; Ahmed, Z; Khan, SN; Kaloustian, VMD; Li, XC; Lalwani, A; Riazuddin, S; Bitner-Glindzicz, M; Nance, WE; Liu, XZ; Wistow, G; Smith, RJH; Griffith, AJ; Wilcox, ER; Friedman, TB; Morell, RJ 分享 收藏
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A mutation (2314delG) in the usher syndrome type IIA gene: High prevalence and phenotypic variation Liu, XZ; Hope, C; Liang, CY; Zou, JM; Xu, LR; Cole, T; Mueller, RF; Bundey, S; Nance, W; Steel, KP; Brown, SDM 分享 收藏
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations DeStefano, AL; Cupples, LA; Arnos, KS; Asher, JH; Baldwin, CT; Blanton, S; Carey, ML; da Silva, EO; Friedman, TB; Greenberg, J; Lalwani, AK; Milunsky, A; Nance, WE; Pandya, A; Ramesar, RS; Read, AP; Tassabejhi, M; Wilcox, ER; Farrer, LA 分享 收藏
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