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There are 18464 results for: content related to: A patient with alopecia, nail dystrophy, palmoplantar hyperkeratosis, keratitis, hearing difficulty and micrognathia without GJB2 or GJB6 mutations: a new type of hidrotic ectodermal dysplasia?

  1. Novel mutations in GJB6 and GJB2 in Clouston syndrome

    Clinical and Experimental Dermatology

    Volume 40, Issue 7, October 2015, Pages: 770–773, Y. T. Liu, K. Guo, J. Li, Y. Liu, W. H. Zeng and S. M. Geng

    Version of Record online : 26 MAR 2015, DOI: 10.1111/ced.12654

  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. 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

  4. Overview of skin diseases linked to connexin gene mutations

    International Journal of Dermatology

    Volume 53, Issue 2, February 2014, Pages: 192–205, Lyubov Avshalumova, Jordan Fabrikant and Angie Koriakos

    Version of Record online : 15 MAY 2013, DOI: 10.1111/ijd.12062

  5. 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

  6. 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

  7. 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

  8. Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: Who should be offered GJB2 testing?

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 14, 15 July 2007, Pages: 1560–1566, Margaret A. Kenna, Heidi L. Rehm, Caroline D. Robson, Anna Frangulov, Jennifer McCallum, Dinah Yaeger and Ian D. Krantz

    Version of Record online : 23 APR 2007, DOI: 10.1002/ajmg.a.31706

  9. Temporal bone abnormalities in children with GJB2 mutations

    The Laryngoscope

    Volume 121, Issue 3, March 2011, Pages: 630–635, Margaret A. Kenna, Heidi L. Rehm, Anna Frangulov, Henry A. Feldman and Caroline D. Robson

    Version of Record online : 4 FEB 2011, DOI: 10.1002/lary.21414

  10. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 2, 1 March 2005, Pages: 128–131, Andreas R. Janecke, Hans Christian Hennies, Barbara Günther, Gabriele Gansl, Josef Smolle, Elisabeth M. Messmer, Gerd Utermann and Olaf Rittinger

    Version of Record online : 4 JAN 2005, DOI: 10.1002/ajmg.a.30515

  11. 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

  12. 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

  13. You have free access to this content
    Pediatric cholesteatoma and variants in the gene encoding connexin 26

    The Laryngoscope

    Volume 120, Issue 1, January 2010, Pages: 183–187, Adrian L. James, Neil K. Chadha, Blake C. Papsin and Tracy L. Stockley

    Version of Record online : 29 OCT 2009, DOI: 10.1002/lary.20649

  14. 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

  15. 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

  16. Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 1, 15 November 2005, Pages: 13–18, Xing Cheng, Li Li, Shanda Brashears, Thierry Morlet, San San Ng, Charles Berlin, Linda Hood and Bronya Keats

    Version of Record online : 12 OCT 2005, DOI: 10.1002/ajmg.a.30929

  17. 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

  18. GJB2 mutations: Passage through Iran

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 2, 1 March 2005, Pages: 132–137, Hossein Najmabadi, Carla Nishimura, Kimia Kahrizi, Yasser Riazalhosseini, Mahdi Malekpour, Ahmad Daneshi, Mohammad Farhadi, Marzieh Mohseni, Nejat Mahdieh, Ahmad Ebrahimi, Niloofar Bazazzadegan, Anoosh Naghavi, Matthew Avenarius, Sanaz Arzhangi and Richard J.H. Smith

    Version of Record online : 21 JAN 2005, DOI: 10.1002/ajmg.a.30576

  19. 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

  20. 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