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There are 7249 results for: content related to: Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

  1. 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

  2. You have free access to this content
    Genetics of Hearing and Deafness

    The Anatomical Record

    Volume 295, Issue 11, November 2012, Pages: 1812–1829, Simon Angeli, Xi Lin and Xue Zhong Liu

    Version of Record online : 8 OCT 2012, DOI: 10.1002/ar.22579

    Corrected by:

    Corrigendum: Corrigendum

    Vol. 298, Issue 11, 1815, Version of Record online: 14 OCT 2015

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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

  4. Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

    Annals of Human Genetics

    Volume 79, Issue 5, September 2015, Pages: 341–349, Maria Amorini, Petronilla Romeo, Rocco Bruno, Francesco Galletti, Chiara Di Bella, Patrizia Longo, Silvana Briuglia, Carmelo Salpietro and Luciana Rigoli

    Version of Record online : 19 JUN 2015, DOI: 10.1111/ahg.12120

  5. 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

  6. Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 8, 15 April 2006, Pages: 827–836, Dinah Yaeger, Jennifer McCallum, Kathy Lewis, Lisa Soslow, Udayan Shah, William Potsic, Catherine Stolle and Ian D. Krantz

    Version of Record online : 10 MAR 2006, DOI: 10.1002/ajmg.a.31179

  7. 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

  8. 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

  9. 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

  10. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 8, 15 April 2007, Pages: 830–838, Joy Samanich, Christina Lowes, Robert Burk, Sara Shanske, J. Lu, Alan Shanske and Bernice E. Morrow

    Version of Record online : 13 MAR 2007, DOI: 10.1002/ajmg.a.31668

  11. DNA sequence analysis of GJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2401–2415, Hsiao-Yuan Tang, Ping Fang, Patricia A. Ward, Eric Schmitt, Sandra Darilek, Spiros Manolidis, John S. Oghalai, Benjamin B. Roa and Raye Lynn Alford

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31525

  12. 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

  13. M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 21, 1 November 2007, Pages: 2534–2543, Agnieszka Pollak, Agata Skórka, Małgorzata Mueller-Malesińska, Grażyna Kostrzewa, Bartłomiej Kisiel, Jarosław Waligóra, Paweł Krajewski, Monika Ołdak, Lech Korniszewski, Henryk Skarżyński and Rafal Ploski

    Version of Record online : 12 OCT 2007, DOI: 10.1002/ajmg.a.31982

  14. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss

    American Journal of Medical Genetics

    Volume 89, Issue 3, 24 September 1999, Pages: 130–136, Edward S. Cohn and Philip M. Kelley

    Version of Record online : 6 MAR 2000, DOI: 10.1002/(SICI)1096-8628(19990924)89:3<130::AID-AJMG3>3.0.CO;2-M

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    Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10

    Human Mutation

    Volume 21, Issue 1, January 2003, Page: 98, Barbara Zoll, Lars Petersen, Katrin Lange, Peter Gabriel, Christiane Kiese-Himmel, Peter Rausch, Joachim Berger, Bastian Pasche, Moritz Meins, Manfred Gross, Roswitha Berger, Eberhard Kruse, Jürgen Kunz, Karl Sperling and Franco Laccone

    Version of Record online : 20 DEC 2002, DOI: 10.1002/humu.9098

  16. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 3, 15 June 2004, Pages: 263–267, Delphine Feldmann, Françoise Denoyelle, Pierre Chauvin, Eréa-Noël Garabédian, Rémy Couderc, Sylvie Odent, Alain Joannard, Sébastien Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Cédric Le Maréchal, Hélène Dollfus, Marie-Madeleine Eliot, Jean-Pierre Delaunoy, Albert David, Catherine Calais, Valérie Drouin-Garraud, Marie-Françoise Obstoy, Didier Bouccara, Olivier Sterkers, Patrice Tran Ba Huy, Cyril Goizet, Françoise Duriez, Florence Fellmann, Jocelyne Hélias, Jacqueline Vigneron, Bétina Montaut, Patricia Lewin, Christine Petit and Sandrine Marlin

    Version of Record online : 5 MAR 2004, DOI: 10.1002/ajmg.a.20588

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    Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss

    Developmental Neurobiology

    Volume 75, Issue 11, November 2015, Pages: 1219–1240, Heiko Locher, John C.M.J. de Groot, Liesbeth van Iperen, Margriet A. Huisman, Johan H.M. Frijns and Susana M. Chuva de Sousa Lopes

    Version of Record online : 28 FEB 2015, DOI: 10.1002/dneu.22279

  18. 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

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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

  20. V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2394–2400, C. Huculak, H. Bruyere, T. N. Nelson, F. K. Kozak and S. Langlois

    Version of Record online : 11 OCT 2006, DOI: 10.1002/ajmg.a.31486