Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss von Kelley, P.M., Harris, D.J., Comer, B.C., Askew, J.W., Fowler, T., Smith, S.D., Kimberling, W.J.

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OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele von Varga, R, Avenarius, M R, Kelley, P M, Keats, B J, Berlin, C I, Hood, L J, Morlet, T G, Brashears, S M, Starr, A, Cohn, E S, Smith, R J H, Kimberling, W J

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Prevalent connexin 26 gene (GJB2) mutations in Japanese von Abe, Satoko, Usami, Shin-ichi, Shinkawa, Hideichi, Kelley, Philip M, Kimberling, William J

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Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene von Varga, R, Kelley, P M, Keats, B J, Starr, A, Leal, S M, Cohn, E, Kimberling, W J

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CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness von Astuto, L.M., Bork, J.M., Weston, M.D., Askew, J.W., Fields, R.R., Orten, D.J., Ohliger, S.J., Riazuddin, S., Morell, R.J., Khan, S., Riazuddin, S., Kremer, H., van Hauwe, P., Moller, C.G., Cremers, C. W.R.J., Ayuso, C., Heckenlively, J.R., Rohrschneider, K., Spandau, U., Greenberg, J., Ramesar, R., Reardon, W., Bitoun, P., Millan, J., Legge, R., Friedman, T.B., Kimberling, W.J.

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Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation von Hildebrand, MS, Thorne, NP, Bromhead, CJ, Kahrizi, K, Webster, JA, Fattahi, Z, Bataejad, M, Kimberling, WJ, Stephan, D, Najmabadi, H, Bahlo, M, Smith, RJH

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PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein von Mochizuki, Toshio, Wu, Guanqing, Hayashi, Tomohito, Xenophontos, Stavroulla L., Veldhuisen, Barbera, Saris, Jasper J., Reynolds, David M., Cai, Yiqiang, Gabow, Patricia A., Pierides, Alkis, Kimberling, William J., Breuning, Martijn H., Deltas, C. Constantinou, Dorien J. M. Peters, Somlo, Stefan

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Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations von USAMI, S.-I, ABE, S, WESTON, M. D, SHINKAWA, H, VAN CAMP, G, KIMBERLING, W. J

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Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa von Eudy, James D., Weston, Michael D., Yao, SuFang, Hoover, Denise M., Rehm, Heidi L., Ma-Edmonds, Manling, Yan, Denise, Ahmad, Iqbal, Cheng, Jason J., Ayuso, Carmen, Cremers, Cor, Davenport, Sandra, Moller, Claes, Talmadge, Catherine B., Beisel, Kirk W., Tamayo, Marta, Morton, Cynthia C., Swaroop, Anand, Kimberling, William J., Sumegi, Janos

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Quantitative Trait Locus for Reading Disability on Chromosome 6 von Cardon, Lon R., Smith, Shelley D., Fulker, David W., Kimberling, William J., Pennington, Bruce F., DeFries, John C.

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Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa von Weston, M.D., Eudy, J.D., Fujita, S., Yao, S.-F., Usami, S., Cremers, C., Greenburg, J., Ramesar, R., Martini, A., Moller, C., Smith, R.J., Sumegi, J., Kimberling, William J.

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Defective myosin VIIA gene responsible for Usher syndrome type 1B von WEIL, D, BLANCHARD, S, KELLEY, P. M, KIMBERLING, W. J, WAGENAAR, M, LEVI-ACOBAS, F, LARGET-PIET, D, MUNNICH, A, STEEL, K. P, BROWN, S. D. M, PETIT, C, KAPLAN, J, GUILFORD, P, GIBSON, F, WALSH, J, MBURU, P, VARELA, A, LEVILLIERS, J, WESTON, M. D

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Clinical Studies of Families With Hearing Loss Attributable to Mutations in the Connexin 26 Gene (GJB2/DFNB1) von Cohn, Edward S, Kelley, Philip M, Fowler, Thomas W, Gorga, Michael P, Lefkowitz, David M, Kuehn, Harold J, Schaefer, G. Bradley, Gobar, Lisa S, Hahn, Francis J, Harris, Djuana J, Kimberling, William J

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Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II von Weston, Michael D., Luijendijk, Mirjam W.J., Humphrey, Kurt D., Möller, Claes, Kimberling, William J.

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Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease von Gabow, Patricia A., Johnson, Ann M., Kaehny, William D., Kimberling, William J., Lezotte, Dennis C., Duley, Irene T., Jones, Richard H.

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Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I von Oshima, A, Jaijo, T, Aller, E, Millan, J.M, Carney, C, Usami, S, Moller, C, Kimberling, W.J

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Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13–q23 von Kimberling, William J., Kumar, Shrawan, Gabow, Patricia A., Kenyon, Judith B., Connolly, Christopher J., Somlo, Stefan

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Isolation of a Gene Encoding a Novel Member of the Nuclear Receptor Superfamily from the Critical Region of Usher Syndrome Type IIa at 1q41 von Eudy, James D., Yao, SuFang, Weston, Michael D., Ma-Edmonds, Manling, Talmadge, Catherine B., Cheng, Jason J., Kimberling, William J., Sumegi, Janos

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Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q von Pieke-Dahl, S, Möller, C G, Kelley, P M, Astuto, L M, Cremers, C W R J, Gorin, M B, Kimberling, W J

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Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients von WESTON, M. D, KELLEY, P. M, CREMERS, C, MÖLLER, C, JACOBSON, S. G, GORIN, M. B, KIMBERLING, W. J, OVERBECK, L. D, WAGENAAR, M, ORTEN, D. J, HASSON, T, CHEN, Z.-Y, COREY, D, MOOSEKER, M, SUMEGI, J

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