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There are 18702 results for: content related to: The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family

  1. Successful Cochlear Implantation in Prelingual Profound Deafness Resulting From the Common 233delC Mutation of the GJB2 Gene in the Japanese

    The Laryngoscope

    Volume 112, Issue 2, February 2002, Pages: 255–261, Naoki Matsushiro, Katsumi Doi, Yuka Fuse, Kenichi Nagai, Koichi Yamamoto, Takako Iwaki, Takayuki Kawashima, Ayako Sawada, Hiroshi Hibino and Takeshi Kubo

    Version of Record online : 2 JAN 2009, DOI: 10.1097/00005537-200202000-00011

  2. 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

  3. A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2485–2492, Mojgan Babanejad, Zohreh Fattahi, Niloofar Bazazzadegan, Carla Nishimura, Nicole Meyer, Nooshin Nikzat, Elahe Sohrabi, Amin Najmabadi, Peyman Jamali, Farkhonde Habibi, Richard J.H. Smith, Kimia Kahrizi and Hossein Najmabadi

    Version of Record online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35572

  4. You have free access to this content
    Double Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech Population

    Annals of Human Genetics

    Volume 69, Issue 1, January 2005, Pages: 9–14, P. Seeman, O. Bendová, D. Rašková, M. Malíková, D. Groh and Z. Kabelka

    Version of Record online : 18 NOV 2004, DOI: 10.1046/j.1529-8817.2003.00120.x

  5. 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

  6. 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

  7. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

    American Journal of Medical Genetics

    Volume 90, Issue 2, 17 January 2000, Pages: 141–145, Takayuki Kudo, Katsuhisa Ikeda, Shigeo Kure, Yoichi Matsubara, Takeshi Oshima, Ken-ichi Watanabe, Tetsuaki Kawase, Kuniaki Narisawa and Tomonori Takasaka

    Version of Record online : 3 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000117)90:2<141::AID-AJMG10>3.0.CO;2-G

  8. 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

  9. Genotype phenotype correlations for hearing impairment: Approaches to management

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 514–523, L. H. Hoefsloot, I. Feenstra, H. P. M. Kunst and H. Kremer

    Version of Record online : 18 FEB 2014, DOI: 10.1111/cge.12339

  10. Inherited Disorders of Cornification

    Standard Article

    Rook's Textbook of Dermatology, Ninth Edition

    Vinzenz Oji, Dieter Metze and Heiko Traupe

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0066

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    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

  12. Deafness

    Standard Article


    Alessandro Terrinoni, Gerry Melino, Valeria Serra, Marco Alessandrini, Bianca Napolitano, Silvana Ciccarone, Alessia Lanzillotta and Ernesto Bruno

    Published Online : 16 FEB 2018, DOI: 10.1002/9780470015902.a0001453.pub3

  13. 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

  14. Phenotype/Genotype Correlations in a DFNB1 Cohort With Ethnical Diversity

    The Laryngoscope

    Volume 118, Issue 11, November 2008, Pages: 2014–2023, Simon I. Angeli

    Version of Record online : 2 JAN 2009, DOI: 10.1097/MLG.0b013e31817fb7ad

  15. Genotype–Phenotype Relationship in Inherited Disorders of Hearing Impairment

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    Lies H Hoefsloot and Anne-Francoise Roux

    Published Online : 17 JUL 2017, DOI: 10.1002/9780470015902.a0026842

  16. 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

  17. You have free access to this content
    Autosomal Dominant Hearing Loss resulting from p.R75Q Mutation in the GJB2 Gene: Nonsyndromic presentation in a South Indian Family

    Annals of Human Genetics

    Volume 79, Issue 1, January 2015, Pages: 76–82, Amritkumar Pavithra, Mathiyalagan Selvakumari, Venkatesan Nityaa, Narasimhan Sharanya, Rajagopalan Ramakrishnan, Murali Narasimhan and C.R. Srikumari Srisailapathy

    Version of Record online : 13 NOV 2014, DOI: 10.1111/ahg.12086

  18. Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation

    Prenatal Diagnosis

    Volume 21, Issue 1, January 2001, Pages: 10–13, Thalia Antoniadi, Andreas Pampanos and Michael B. Petersen

    Version of Record online : 31 JAN 2001, DOI: 10.1002/1097-0223(200101)21:1<10::AID-PD968>3.0.CO;2-H

  19. Disorders of Keratinization

    Rook's Textbook of Dermatology, Seventh Edition

    M. R. Judge, W. H. I. McLean, C. S. Munro, Pages: 1619–1730, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch34

  20. Genetic epidemiological studies of congenital/prelingual deafness in Turkey: Population structure and mating type are major determinants of mutation identification

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 14, 15 July 2007, Pages: 1583–1591, Mustafa Tekin and Zehra Serap Arıcı

    Version of Record online : 19 APR 2007, DOI: 10.1002/ajmg.a.31702