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 clin... von 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, Griffith, A J

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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness von 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, Riazuddin, S, Kabra, M, Erdenetungalag, R, Radnaabazar, J, Khan, S, Pandya, A, Usami, S-I, Nance, W E, Wilcox, E R, Griffith, A J

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Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes von 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

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Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia von Tekin, M, Öztürkmen Akay, H, Fitoz, S, Birnbaum, S, Cengiz, FB, Sennaroğlu, L, İncesulu, A, Yüksel Konuk, EB, Hasanefendioğlu Bayrak, A, Şentürk, S, Cebeci, İ, Ütine, GE, Tunçbilek, E, Nance, WE, Duman, D

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Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss von Stern, S J, Arnos, K S, Murrelle, L, Welch, K Oelrich, Nance, W E, Pandya, A

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Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss von LIU, X.-Z, XIA JUAN XIA, LI RONG XU, PANDYA, A, CHUAN YU LIANG, BLANTON, S. H, BROWN, S. D. M, STEEL, K. P, NANCE, W. E

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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 impai... von del Castillo, F J, Rodríguez-Ballesteros, M, Álvarez, A, Hutchin, T, Leonardi, E, de Oliveira, C A, Azaiez, H, Brownstein, Z, Avenarius, M R, Marlin, S, Pandya, A, Shahin, H, Siemering, K R, Weil, D, Wuyts, W, Aguirre, L A, Martín, Y, Moreno-Pelayo, M A, Villamar, M, Avraham, K B, Dahl, H-H M, Kanaan, M, Nance, W E, Petit, C, Smith, R J H, Van Camp, G, Sartorato, E L, Murgia, A, Moreno, F, del Castillo, I

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Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity von Pandya, A, Xia, X, Radnaabazar, J, Batsuuri, J, Dangaansuren, B, Fischel-Ghodsian, N, Nance, W E

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Linkage Studies in a Large Kindred with Hereditary Pancreatitis Confirms Mapping of the Gene to a 16-cM Region on 7q von Pandya, A., Blanton, S.Halloran, Landa, B., Javaheri, R., Melvin, E., Nance, W.E., Markello, T.

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A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12 von Yan, D, Ke, X, Blanton, S H, Ouyang, X M, Pandya, A, Du, L L, Nance, W E, Liu, X Z

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Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians von TEKIN, Mustafa, AKAR, Nejat, CIN, Sükrü, BLANTON, Susan H, XIA JUAN XIA, XUE ZHONG LIU, NANCE, Walter E, PANDYA, Arti

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Heterogenous Point Mutations in the Mitochondrial tRNA Ser(UCN) Precursor Coexisting with the A1555G Mutation in Deaf Students from Mongolia von Pandya, Arti, Xia, Xia-Juan, Erdenetungalag, Raadnabazar, Amendola, Michael, Landa, Barbara, Radnaabazar, Janchiv, Dangaasuren, Begzsuren, Van Tuyle, Glenn, Nance, Walter E.

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Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss von Nance, Walter E., Lim, B. Gail, Dodson, Kelley M.

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A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter von Blanton, S H, Liang, C Y, Cai, M W, Pandya, A, Du, L L, Landa, B, Mummalanni, S, Li, K S, Chen, Z Y, Qin, X N, Liu, Y F, Balkany, T, Nance, W E, Liu, X Z

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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness von Ben-Yosef, Tamar, Wattenhofer, Marie, Riazuddin, Saima, Ahmed, Zubair M, Scott, Hamish S, Kudoh, Jun, Shibuya, Kazunori, Antonarakis, Stylianos E, Bonne-Tamir, Batsheva, Radhakrishna, Uppala, Naz, Sadaf, Ahmed, Zahoor, Riazuddin, Sheikh, Pandya, Arti, Nance, Walter E, Wilcox, Edward R, Friedman, Thomas B, Morell, Robert J

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USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele von Ouyang, XM, Hejtmancik, JF, Jacobson, SG, Xia, XJ, Li, A, Du, LL, Newton, V, Kaiser, M, Balkany, T, Nance, WE, Liu, X-Z

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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... von Zwaenepoel, Ingrid, Mustapha, Mirna, Leibovici, Michel, Verpy, Elisabeth, Goodyear, Richard, Liu, Xue Zhong, Nouaille, Sylvie, Nance, Walter E., Kanaan, Moien, Avraham, Karen B., Tekaia, Fredj, Loiselet, Jacques, Lathrop, Marc, Richardson, Guy, Petit, Christine

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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population von XIAO MEI OUYANG, YAN, Denise, BROWN, Steve D. M, BALKANY, Thomas, XUE ZHONG LIU, LI LIN DU, FIELDING HEJTMANCIK, J, JACOBSON, Samuel G, NANCE, Walter E, LI, An Ren, ANGELI, Simon, KAISER, Muriel, NEWTON, Valerie

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Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss von Liu, Xue Zhong, Ouyang, Xiao Mei, Xia, Xia Juan, Zheng, Jing, Pandya, Arti, Li, Fang, Du, Li Lin, Welch, Katherine O., Petit, Christine, Smith, Richard J.H., Webb, Bradley T., Yan, Denise, Arnos, Kathleen S., Corey, David, Dallos, Peter, Nance, Walter E., Chen, Zheng Yi

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The prevalence of connexin 26 (GJB2) mutations in the Chinese population von XUE ZHONG LIU, XIA JUAN XIA, LI RONG XU, XIAO MEI KE, XIAO MEI OUYANG, LI LIN DU, YU HE LIU, ANGELI, Simon, TELISCHI, Fred F, NANCE, Walter E, BALKANY, Thomas

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