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There are 13831 results for: content related to: Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations

  1. 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

  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

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

  3. 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

  4. 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

    Article first published online : 12 OCT 2007, DOI: 10.1002/ajmg.a.31982

  5. 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

    Article first published online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31525

  6. 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

    Article first published online : 13 MAR 2007, DOI: 10.1002/ajmg.a.31668

  7. 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

  8. 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

    Article first published online : 4 FEB 2011, DOI: 10.1002/lary.21414

  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

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

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    Performance of cochlear implant recipients with GJB2-related deafness

    American Journal of Medical Genetics

    Volume 109, Issue 3, 1 May 2002, Pages: 167–170, Glenn E. Green, Daryl A. Scott, Joshua M. McDonald, Holly F.B. Teagle, Bruce J. Tomblin, Linda J. Spencer, George G. Woodworth, John F. Knutson, Bruce J. Gantz, Val C. Sheffield and Richard J.H. Smith

    Article first published online : 16 APR 2002, DOI: 10.1002/ajmg.10330

  11. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

    Human Mutation

    Volume 16, Issue 3, September 2000, Pages: 190–202, Raquel Rabionet, Paolo Gasparini and Xavier Estivill

    Article first published online : 6 SEP 2000, DOI: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I

  12. Molecular genetics study of deafness in Brazil: 8-year experience

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 14, 15 July 2007, Pages: 1574–1579, Camila Andréa de Oliveira, Fabiana Alexandrino, Thalita Vitachi Christiani, Carlos Eduardo Steiner, José Luiz Rosemberis Cunha, Andréa Trevas Maciel Guerra and Edi Lúcia Sartorato

    Article first published online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31838

  13. Non-syndromic, autosomal-recessive deafness

    Clinical Genetics

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

    Article first published online : 27 APR 2006, DOI: 10.1111/j.1399-0004.2006.00613.x

  14. 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

  15. Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK – implications for genetic testing

    Clinical Genetics

    Volume 68, Issue 6, December 2005, Pages: 506–512, T Hutchin, NN Coy, H Conlon, E Telford, K Bromelow, D Blaydon, G Taylor, E Coghill, S Brown, R Trembath, XZ Liu, M Bitner-Glindzicz and R Mueller

    Article first published online : 10 NOV 2005, DOI: 10.1111/j.1399-0004.2005.00539.x

  16. You have free access to this content
    Methodology of a multistate study of congenital hearing loss: Preliminary data from Utah newborn screening

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 125C, Issue 1, 15 February 2004, Pages: 28–34, Karin M. Dent, Aileen Kenneson, Janice C. Palumbos, Stacy Maxwell, John Eichwald, Karl White, Rong Mao, James F. Bale Jr and John C. Carey

    Article first published online : 14 JAN 2004, DOI: 10.1002/ajmg.c.30002

  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

    Article first published online : 3 SEP 2010, DOI: 10.1097/00005537-200310000-00018

  18. SNaPshot reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort

    Clinical Genetics

    Y. Chen, Y. Cao, H.-B. Li, J. Mao, M.-J. Liu, Y.-H. Liu, B.-J. Wang, D. Jiang, Q. Zhu, Y. Ding, W. Wang, H. Li and K.W. Choy

    Article first published online : 16 SEP 2014, DOI: 10.1111/cge.12452

  19. Epidemiological study of nonsyndromic hearing loss in Sicilian newborns

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 14, 15 July 2007, Pages: 1666–1670, M. Niceta, C. Fabiano, P. Sammarco, M. Piccione, V. Antona, M. Giuffrè and G. Corsello

    Article first published online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31836

  20. 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

    Article first published online : 21 JAN 2005, DOI: 10.1002/ajmg.a.30576