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There are 6884 results for: content related to: Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea

  1. 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

    Article first published online : 5 JUL 2005, DOI: 10.1111/j.1365-2230.2005.01878.x

  2. 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

    Article first published online : 23 APR 2003, DOI: 10.1002/ajmg.a.20210

  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

    Article first published online : 8 OCT 2013, DOI: 10.1002/lary.24332

  4. Connexin gene pathology

    Clinical and Experimental Dermatology

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

    Article first published online : 19 JUN 2003, DOI: 10.1046/j.1365-2230.2003.01312.x

  5. 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

    Article first published online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01387.x

  6. 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

  7. 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

    Article first published online : 10 MAR 2006, DOI: 10.1002/ajmg.a.31179

  8. Auditory Responses in Cochlear Implant Users With and Without GJB2 Deafness

    The Laryngoscope

    Volume 116, Issue 2, February 2006, Pages: 317–327, Evan Jon Propst, Blake C. Papsin, Tracy L. Stockley, Robert V. Harrison and Karen A. Gordon

    Article first published online : 3 JAN 2009, DOI: 10.1097/01.mlg.0000199401.26626.4b

  9. 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

    Article first published online : 23 APR 2007, DOI: 10.1002/ajmg.a.31706

  10. 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

    Article first published online : 8 OCT 2012, DOI: 10.1002/ar.22579

    Corrected by:

    Corrigendum: Corrigendum

    Vol. 298, Issue 11, 1815, Article first published online: 14 OCT 2015

  11. Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss

    British Journal of Dermatology

    Volume 161, Issue 2, August 2009, Pages: 452–455, I. Nemoto-Hasebe, M. Akiyama, S. Kudo, A. Ishiko, A. Tanaka, K. Arita and H. Shimizu

    Article first published online : 30 MAR 2009, DOI: 10.1111/j.1365-2133.2009.09137.x

  12. Temporal Bone Imaging in GJB2 Deafness

    The Laryngoscope

    Volume 116, Issue 12, December 2006, Pages: 2178–2186, Evan J. Propst, Susan Blaser, Tracy L. Stockley, Robert V. Harrison, Karen A. Gordon and Blake C. Papsin

    Article first published online : 2 JAN 2009, DOI: 10.1097/01.mlg.0000244389.68568.a7

  13. You have free access to this content
    Mutations in connexin genes and disease

    European Journal of Clinical Investigation

    Volume 41, Issue 1, January 2011, Pages: 103–116, Anna Pfenniger, Annelise Wohlwend and Brenda R. Kwak

    Article first published online : 14 SEP 2010, DOI: 10.1111/j.1365-2362.2010.02378.x

  14. Cochlear Implantation for Children With GJB2-Related Deafness

    The Laryngoscope

    Volume 114, Issue 8, August 2004, Pages: 1415–1419, Robert D. Cullen, Craig A. Buchman, Carolyn J. Brown, Ben J. Copeland, Carlton Zdanski, Harold C. Pillsbury III and Carol G. Shores

    Article first published online : 3 JAN 2009, DOI: 10.1097/00005537-200408000-00019

  15. Functional Study of GJB2 in Hereditary Hearing Loss

    The Laryngoscope

    Volume 112, Issue 9, September 2002, Pages: 1667–1671, Yun Hoon Choung, Sung-Kyun Moon and Hong-Joon Park

    Article first published online : 2 JAN 2009, DOI: 10.1097/00005537-200209000-00026

  16. 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

    Article first published online : 2 JAN 2009, DOI: 10.1097/00005537-200202000-00011

  17. 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

    Article first published online : 12 OCT 2005, DOI: 10.1002/ajmg.a.30929

  18. A novel dominant missense mutation – D179N – in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

    Clinical Genetics

    Volume 63, Issue 6, June 2003, Pages: 516–521, P Primignani, P Castorina, F Sironi, C Curcio, U Ambrosetti and DA Coviello

    Article first published online : 3 JUN 2003, DOI: 10.1034/j.1399-0004.2003.00079.x

  19. 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

    Article first published online : 19 JUN 2015, DOI: 10.1111/ahg.12120

  20. 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

    Article first published online : 5 MAR 2004, DOI: 10.1002/ajmg.a.20588