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There are 4256 results for: content related to: Genetics of Hearing and Deafness

  1. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness

    American Journal of Medical Genetics Part A

    Volume 121A, Issue 2, 30 August 2003, Pages: 102–108, Bai-Lin Wu, Margaret Kenna, Va Lip, Mira Irons and Orah Platt

    Version of Record online : 23 APR 2003, DOI: 10.1002/ajmg.a.20210

  2. Non-syndromic, autosomal-recessive deafness

    Clinical Genetics

    Volume 69, Issue 5, May 2006, Pages: 371–392, MB Petersen and PJ Willems

    Version of Record online : 27 APR 2006, DOI: 10.1111/j.1399-0004.2006.00613.x

  3. GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

    The Laryngoscope

    Volume 124, Issue 2, February 2014, Pages: E34–E53, Dylan K. Chan and Kay W. Chang

    Version of Record online : 8 OCT 2013, DOI: 10.1002/lary.24332

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    Connexins: Sensors of epidermal integrity that are therapeutic targets

    FEBS Letters

    Volume 588, Issue 8, April 17, 2014, Pages: 1304–1314, Patricia E. Martin, Jennifer A. Easton, Malcolm B. Hodgins and Catherine S. Wright

    Version of Record online : 4 MAR 2014, DOI: 10.1016/j.febslet.2014.02.048

  5. Clinical application of genetic testing for deafness

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 1, 15 September 2004, Pages: 8–12, Richard J.H. Smith

    Version of Record online : 21 APR 2004, DOI: 10.1002/ajmg.a.30053

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    Functional analysis of connexin-26 mutants associated with hereditary recessive deafness

    Journal of Neurochemistry

    Volume 84, Issue 4, February 2003, Pages: 735–742, Hung-Li Wang, Wen-Teng Chang, Allen H. Li, Tu-Hsueh Yeh, Ching-Yi Wu, Mei-Shin Chen and Pei-Chen Huang

    Version of Record online : 31 JAN 2003, DOI: 10.1046/j.1471-4159.2003.01555.x

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    Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness

    FEBS Letters

    Volume 533, Issue 1, January 02, 2003, Pages: 79–88, R. Bruzzone, V. Veronesi, D. Gomès, M. Bicego, N. Duval, S. Marlin, C. Petit, P. D'Andrea and T.W. White

    Version of Record online : 5 DEC 2002, DOI: 10.1016/S0014-5793(02)03755-9

  8. Connexin gene pathology

    Clinical and Experimental Dermatology

    Volume 28, Issue 4, July 2003, Pages: 397–409, G. Richard

    Version of Record online : 19 JUN 2003, DOI: 10.1046/j.1365-2230.2003.01312.x

  9. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 267–274, E Wilch, H Azaiez, RA Fisher, J Elfenbein, A Murgia, R Birkenhäger, H Bolz, SM Da Silva-Costa, I Del Castillo, T Haaf, L Hoefsloot, H Kremer, C Kubisch, C Le Marechal, A Pandya, EL Sartorato, E Schneider, G Van Camp, W Wuyts, RJH Smith and KH Friderici

    Version of Record online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01387.x

  10. Gap Junctions and Connexins: The Molecular Genetics of Deafness

    Standard Article

    eLS

    Regina Nickel and Andrew Forge

    Published Online : 18 OCT 2010, DOI: 10.1002/9780470015902.a0021441

  11. Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2)

    Human Mutation

    Volume 18, Issue 1, July 2001, Pages: 42–51, Doris Lin, Jayne A. Goldstein, Anand N. Mhatre, Lawrence R. Lustig, Markus Pfister and Anil K. Lalwani

    Version of Record online : 28 JUN 2001, DOI: 10.1002/humu.1148

  12. Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT

    American Journal of Medical Genetics

    Volume 95, Issue 1, 6 November 2000, Pages: 53–56, Israela Lerer, Michal Sagi, Esther Malamud, Haya Levi, Annick Raas-Rothschild and Dvorah Abeliovich

    Version of Record online : 7 NOV 2000, DOI: 10.1002/1096-8628(20001106)95:1<53::AID-AJMG11>3.0.CO;2-2

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    CO2-dependent opening of connexin 26 and related β connexins

    The Journal of Physiology

    Volume 588, Issue 20, October 2010, Pages: 3921–3931, Robert T. R. Huckstepp, Robert Eason, Anshu Sachdev and Nicholas Dale

    Version of Record online : 14 OCT 2010, DOI: 10.1113/jphysiol.2010.192096

  14. The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family

    Clinical Genetics

    Volume 62, Issue 4, October 2002, Pages: 306–309, O Uyguner, T Tukel, C Baykal, H Eris, M Emiroglu, G Hafiz, A Ghanbari, N Baserer, M Yuksel-Apak and B Wollnik

    Version of Record online : 8 OCT 2002, DOI: 10.1034/j.1399-0004.2002.620409.x

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    Connexins: a connection with the skin

    Experimental Dermatology

    Volume 9, Issue 2, April 2000, Pages: 77–96, Gabriela Richard

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1600-0625.2000.009002077.x

  16. Connexin26 in adult rodent central nervous system: Demonstration at astrocytic gap junctions and colocalization with connexin30 and connexin43

    Journal of Comparative Neurology

    Volume 441, Issue 4, 24 December 2001, Pages: 302–323, James I. Nagy, Xinbo Li, Jeremy Rempel, Gerald Stelmack, Daywin Patel, William A. Staines, Thomas Yasumura and John E. Rash

    Version of Record online : 28 NOV 2001, DOI: 10.1002/cne.1414

  17. Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland

    The Laryngoscope

    Volume 113, Issue 10, October 2003, Pages: 1758–1763, Tuija Löppönen, Marja-Leena Väisänen, Mirja Luotonen, Minna Allinen, Johanna Uusimaa, PÄIvi Lindholm, Elina Mäki-Torkko, Mirja Väyrynen, Heikki Löppönen and Jaakko Leisti

    Version of Record online : 3 SEP 2010, DOI: 10.1097/00005537-200310000-00018

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    Connexin hemichannel-mediated CO2-dependent release of ATP in the medulla oblongata contributes to central respiratory chemosensitivity

    The Journal of Physiology

    Volume 588, Issue 20, October 2010, Pages: 3901–3920, Robert T. R. Huckstepp, Rachid Id Bihi, Robert Eason, K. Michael Spyer, Nikolai Dicke, Klaus Willecke, Nephtali Marina, Alexander V. Gourine and Nicholas Dale

    Version of Record online : 14 OCT 2010, DOI: 10.1113/jphysiol.2010.192088

  19. Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830)

    Clinical and Experimental Dermatology

    Volume 30, Issue 6, November 2005, Pages: 688–693, J. E. A. Common, M. Bitner-Glindzicz, E. A. O'Toole, M. R. Barnes, L. Jenkins, A. Forge and D. P. Kelsell

    Version of Record online : 5 JUL 2005, DOI: 10.1111/j.1365-2230.2005.01878.x

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    A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

    Human Mutation

    Volume 18, Issue 5, November 2001, Page: 460, Israela Lerer, Michal Sagi, Ziva Ben-Neriah, Tieling Wang, Haya Levi and Dvorah Abeliovich

    Version of Record online : 9 OCT 2001, DOI: 10.1002/humu.1222