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, Griffith, A J
Published in Journal of medical genetics (01.02.2005)
Published in Journal of medical genetics (01.02.2005)
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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, Riazuddin, S, Kabra, M, Erdenetungalag, R, Radnaabazar, J, Khan, S, Pandya, A, Usami, S-I, Nance, W E, Wilcox, E R, Griffith, A J
Published in Journal of medical genetics (01.04.2003)
Published in Journal of medical genetics (01.04.2003)
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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
Published in Journal of medical genetics (01.12.2009)
Published in Journal of medical genetics (01.12.2009)
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Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia
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
Published in Clinical genetics (01.06.2008)
Published in Clinical genetics (01.06.2008)
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Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss
Stern, S J, Arnos, K S, Murrelle, L, Welch, K Oelrich, Nance, W E, Pandya, A
Published in Journal of medical genetics (01.06.2002)
Published in Journal of medical genetics (01.06.2002)
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A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12
Yan, D, Ke, X, Blanton, S H, Ouyang, X M, Pandya, A, Du, L L, Nance, W E, Liu, X Z
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Heterogenous Point Mutations in the Mitochondrial tRNA Ser(UCN) Precursor Coexisting with the A1555G Mutation in Deaf Students from Mongolia
Pandya, Arti, Xia, Xia-Juan, Erdenetungalag, Raadnabazar, Amendola, Michael, Landa, Barbara, Radnaabazar, Janchiv, Dangaasuren, Begzsuren, Van Tuyle, Glenn, Nance, Walter E.
Published in American journal of human genetics (01.12.1999)
Published in American journal of human genetics (01.12.1999)
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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 impairment
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
Published in Journal of medical genetics (01.07.2005)
Published in Journal of medical genetics (01.07.2005)
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A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter
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
Published in Journal of medical genetics (01.08.2002)
Published in Journal of medical genetics (01.08.2002)
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USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele
Ouyang, XM, Hejtmancik, JF, Jacobson, SG, Xia, XJ, Li, A, Du, LL, Newton, V, Kaiser, M, Balkany, T, Nance, WE, Liu, X-Z
Published in Clinical genetics (01.02.2003)
Published in Clinical genetics (01.02.2003)
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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
TEKIN, Mustafa, AKAR, Nejat, CIN, Sükrü, BLANTON, Susan H, XIA JUAN XIA, XUE ZHONG LIU, NANCE, Walter E, PANDYA, Arti
Published in Human genetics (01.05.2001)
Published in Human genetics (01.05.2001)
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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
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
Published in Journal of medical genetics (01.06.2001)
Published in Journal of medical genetics (01.06.2001)
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Haplotype analysis of the USH1D locus and genotype-phenotype correlations
Liu, X-Z, Blanton, SH, Bitner-Glindzicz, M, Pandya, A, Landa, B, MacArdle, B, Rajput, K, Bellman, S, Webb, BT, Ping, X, Smith, RJH, Nance, WE
Published in Clinical genetics (01.07.2001)
Published in Clinical genetics (01.07.2001)
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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
Published in Clinical genetics (01.04.2001)
Published in Clinical genetics (01.04.2001)
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The occurrence of epilepsy and febrile seizures in Virginian and Norwegian twins
Corey, L A, Berg, K, Pellock, J M, Solaas, M H, Nance, W E, DeLorenzo, R J
Published in Neurology (01.09.1991)
Published in Neurology (01.09.1991)
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Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss
Nance, Walter E., Lim, B. Gail, Dodson, Kelley M.
Published in Journal of clinical virology (01.02.2006)
Published in Journal of clinical virology (01.02.2006)
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