Search Results - "Nance, WE"

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 by 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

“…SLC26A4 mutations cannot be detected in about one third of patients with EVA, whereas only one mutant SLC26A4 allele is identified in another third. 22- 24…”
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Relevance of connexin deafness (DFNB1) to human evolution by NANCE, Walter E, KEARSEY, Michael J

“…The connexins are the subunits of a family of proteins that form gap junctions, allowing ions and small molecules to move between adjacent cells. At least four…”
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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness by 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

“…Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and non-syndromic deafness in western populations. Although south and east Asia…”
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Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss by Nance, Walter E., Lim, B. Gail, Dodson, Kelley M.

“…No large population based studies of newborn hearing screening have reported the population frequency of more than one specific form of deafness. To combine…”
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Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss by 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

“…Prestin, a membrane protein that is highly and almost exclusively expressed in the outer hair cells (OHCs) of the cochlea, is a motor protein which senses…”
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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population by 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

“…Usher syndrome type I (USH1), the most severe form of this syndrome, is characterized by profound congenital sensorineural deafness, vestibular dysfunction,…”
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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 Deafness DFNB22 by 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

“…A 3,673-bp murine cDNA predicted to encode a glycosylphosphatidylinositol-anchored protein of 1,088 amino acids was isolated during a study aimed at…”
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The prevalence of connexin 26 (GJB2) mutations in the Chinese population by 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

“…Mutations in GJB2, encoding gap junction beta 2 protein (connexin 26), are responsible for the commonest form of non-syndromic recessive deafness in many…”
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Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians by YAN, Denise, PARK, Hong-Joon, XUE ZHONG LIU, XIAO MEI OUYANG, PANDYA, Arti, DOI, Katsumi, ERDENETUNGALAG, Raadnabazar, LI LIN DU, MATSUSHIRO, Naoki, NANCE, Walter E, GRIFFITH, Andrew J

“…Mutations in the GJB2 gene encoding connexin 26 (Cx26) are a major cause of autosomal recessive and sporadic cases of congenital deafness in most populations…”
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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 by 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

“…Profound hearing loss occurs with a frequency of 1 in 1000 live births, half of which is genetic in etiology. The past decade has witnessed rapid advances in…”
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Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness by 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

“…Mutations in four members of the connexin gene family have been shown to underlie distinct genetic forms of deafness, including GJB2 [connexin 26 (Cx26)], GJB3…”
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Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness by XIAO MEI OUYANG, XIA JUAN XIA, VERPY, Elisabeth, LI LIN DU, PANDYA, Arti, PETIT, Christine, BALKANY, Thomas, NANCE, Walter E, XUE ZHONG LIU

“…We have recently shown that USH1C underlies Usher syndrome type 1c (USH1C), an USH1 subtype characterized by profound deafness, retinitis pigmentosa, and…”
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Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia by 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

“…Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness…”
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Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss by 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

“…Mutations in the GJB3 gene encoding connexin31 (Cx31) can cause a dominant non-syndromic form of hearing loss (DFNA2). To determine whether mutations at this…”
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Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

“…The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up…”
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Audiological Features of GJB2 (Connexin 26) Deafness by Liu, Xue Zhong, Pandya, Arti, Angeli, Simon, Telischi, Fred F, Arnos, Kathleen S, Nance, Walter E, Balkany, Thomas

“…OBJECTIVE:The aim of the present study was to characterize audiological profiles in patients with GJB2 deafness DESIGN:We screened DNA from 399 individuals…”
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Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss by Stern, S J, Arnos, K S, Murrelle, L, Welch, K Oelrich, Nance, W E, Pandya, A

“…The Deaf community has traditionally viewed the field of genetics with distrust, owing in large part to the "medicalisation" of deafness and awareness of the…”
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The genetics of deafness by Nance, Walter E.

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Heterogenous Point Mutations in the Mitochondrial tRNA Ser(UCN) Precursor Coexisting with the A1555G Mutation in Deaf Students from Mongolia by 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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Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity by Pandya, A, Xia, X, Radnaabazar, J, Batsuuri, J, Dangaansuren, B, Fischel-Ghodsian, N, Nance, W E

“…Irreversible hearing loss is a catastrophic complication of treatment with aminoglycoside antibiotics such as streptomycin, gentamycin, and kanamycin. Many…”
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