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
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Published in Journal of medical genetics (01.02.2005)
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Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity
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W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness
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Published in Clinical genetics (01.04.2001)
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Published in The Lancet (British edition) (29.09.2001)
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Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations
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Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss
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
Published in Human molecular genetics (15.05.2003)
Published in Human molecular genetics (15.05.2003)
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Locus heterogeneity for waardenburg syndrome is predictive of clinical subtypes
FARRER, L. A, ARNOS, K. S, LANDA, B, LEVERTON, K, MILUNSKY, A, MORELL, R, NANCE, W. E, NEWTON, V, RAJKUMAR RAMESAR, RAO, V. S, REYNOLDS, J. E, SAN AGUSTIN, T. B, ASHER, J. H, WILCOW, E. R, WINSHIP, I, READ, A. P, BALDWIN, C. T, DIEHL, S. R, FRIEDMAN, T. B, GREENBERG, J, GRUNDFAST, K. M, HOTH, C, LALWANI, A. K
Published in American journal of human genetics (01.10.1994)
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Published in American journal of human genetics (01.10.1994)
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Phenotypic Variation in Waardenburg Syndrome: Mutational Heterogeneity, Modifier Genes or Polygenic Background?
Pandya, Arti, Xia, Xia-Juan, Landa, Barbara L., Arnos, Kathleen S., Israel, Jamie, Lloyd, Joyce, James, Anthony L., Diehl, Scott R., Blanton, Susan H., Nance, Walter E.
Published in Human molecular genetics (01.04.1996)
Published in Human molecular genetics (01.04.1996)
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Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
Pandya, Arti, Arnos, Kathleen S, Xia, Xia J, Welch, Katherine O, Blanton, Susan H, Friedman, Thomas B, Garcia Sanchez, Guillermina, Liu MD, Xiu Z, Morell, Robert, Nance, Walter E
Published in Genetics in medicine (01.07.2003)
Published in Genetics in medicine (01.07.2003)
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Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness
XUE ZHONG LIU, XIA JUAN XIA, ARNOS, Kathleen S, NANCE, Walter E, ADAMS, Joe, ZHENG YI CHEN, WELCH, Katherine O, TEKIN, Mustafa, XIAO MEI OUYANG, KRISTIANSEN, Arther, PANDYA, Arti, BALKANY, Thomas
Published in Human molecular genetics (01.12.2001)
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Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome
REYNOLDS, J. E, MARAZITA, M. L, MEYER, J. M, STEVENS, C. A, EAVES, L. J, ARNOS, K. S, PLOUGHMAN, L. M, MACLEAN, C, NANCE, W. E, DIEHL, S. R
Published in American journal of human genetics (01.02.1996)
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Published in American journal of human genetics (01.02.1996)
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Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
Prezant, Toni R, Agapian, John V, Bohlman, M. Charlotte, Bu, Xiangdong, Öztas, Sitki, Qiu, Wei-Qin, Arnos, Kathleen S, Cortopassi, Gino A, Jaber, Lutfi, Rotter, Jerome I, Shohat, Mordechai, Fischel-Ghodsian, Nathan
Published in Nature genetics (01.07.1993)
Published in Nature genetics (01.07.1993)
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Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
Marazita, M L, Ploughman, L M, Rawlings, B, Remington, E, Arnos, K S, Nance, W E
Published in American journal of medical genetics (15.06.1993)
Published in American journal of medical genetics (15.06.1993)
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Genetic counseling for the deaf
Arnos, K S, Israel, J, Devlin, L, Wilson, M P
Published in Otolaryngologic clinics of North America (01.10.1992)
Published in Otolaryngologic clinics of North America (01.10.1992)
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Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium
Farrer, L A, Grundfast, K M, Amos, J, Arnos, K S, Asher, Jr, J H, Beighton, P, Diehl, S R, Fex, J, Foy, C, Friedman, T B
Published in American journal of human genetics (01.05.1992)
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Published in American journal of human genetics (01.05.1992)
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Innovative approach to genetic counseling services for the deaf population
Arnos, K S, Cunningham, M, Israel, J, Marazita, M L
Published in American journal of medical genetics (01.10.1992)
Published in American journal of medical genetics (01.10.1992)
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Analysis of variability of clinical manifestations in Waardenburg syndrome
Reynolds, J E, Meyer, J M, Landa, B, Stevens, C A, Arnos, K S, Israel, J, Marazita, M L, Bodurtha, J, Nance, W E, Diehl, S R
Published in American journal of medical genetics (17.07.1995)
Published in American journal of medical genetics (17.07.1995)
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A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart
Arnos, Kathleen S., Welch, Katherine O., Tekin, Mustafa, Norris, Virginia W., Blanton, Susan H., Pandya, Arti, Nance, Walter E.
Published in American journal of human genetics (01.08.2008)
Published in American journal of human genetics (01.08.2008)
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