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There are 11285 results for: content related to: DFNA9 Is a Progressive Audiovestibular Dysfunction With a Microfibrillar Deposit in the Inner Ear

  1. Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family

    Clinical Otolaryngology & Allied Sciences

    Volume 26, Issue 6, December 2001, Pages: 477–483, W.I.M. Verhagen, S.J.H. Bom, E. Fransen, G. Van Camp, P.L.M. Huygen, E.J.J.M. Theunissen and C.W.R.J. Cremers

    Version of Record online : 11 JAN 2002, DOI: 10.1046/j.1365-2273.2001.00505.x

  2. You have free access to this content
    Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum

    The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology

    Volume 288A, Issue 4, April 2006, Pages: 370–381, Richard K. Mchugh and Rick A. Friedman

    Version of Record online : 20 MAR 2006, DOI: 10.1002/ar.a.20297

  3. Non-syndromic autosomal-dominant deafness

    Clinical Genetics

    Volume 62, Issue 1, July 2002, Pages: 1–13, MB Petersen

    Version of Record online : 18 JUL 2002, DOI: 10.1034/j.1399-0004.2002.620101.x

  4. Identification of Pathogenic Mechanisms of COCH Mutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype–Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1506–1513, Seung-Hyun Bae, Nahid G. Robertson, Hyun-Ju Cho, Cynthia C. Morton, Da Jung Jung, Jeong-In Baek, Soo-Young Choi, Jaetae Lee, Kyu-Yup Lee and Un-Kyung Kim

    Version of Record online : 24 NOV 2014, DOI: 10.1002/humu.22701

  5. Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1168–1175, Jinsei Jung, Han Sang Kim, Min Goo Lee, Eun Jin Yang and Jae Young Choi

    Version of Record online : 27 AUG 2015, DOI: 10.1002/humu.22855

  6. A novel mutation in COCH—implications for genotype-phenotype correlations in DFNA9 hearing loss

    The Laryngoscope

    Volume 120, Issue 12, December 2010, Pages: 2489–2493, Michael S. Hildebrand, Luke Gandolfo, A. Eliot Shearer, Jennifer A. Webster, Maren Jensen, William J. Kimberling, Dietrich Stephan, Patrick L. M. Huygen, Richard J. H. Smith and Melanie Bahlo

    Version of Record online : 2 NOV 2010, DOI: 10.1002/lary.21159

  7. Mutation in the COCH gene is associated with superior semicircular canal dehiscence

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 2, February 2009, Pages: 280–285, Michael S. Hildebrand, Dylan Tack, Adam DeLuca, In Ae Hur, Jana M. Van Rybroek, Sarah J. McMordie, Ann Muilenburg, David P. Hoskinson, Guy Van Camp, Myles L. Pensak, Ian S. Storper, Patrick L.M. Huygen, Thomas L. Casavant and Richard J.H. Smith

    Version of Record online : 22 JAN 2009, DOI: 10.1002/ajmg.a.32618

  8. Audioprofiles and antioxidant enzyme genotypes in presbycusis

    The Laryngoscope

    Volume 122, Issue 11, November 2012, Pages: 2539–2542, Simon I. Angeli, Anthony Bared, Xiaomei Ouyang, Li Lin Du, Denise Yan and Xue Zhong Liu

    Version of Record online : 10 SEP 2012, DOI: 10.1002/lary.23577

  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

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    Presbycusis: A human temporal bone study of individuals with flat audiometric patterns of hearing loss using a new method to quantify stria vascularis volume

    The Laryngoscope

    Volume 113, Issue 10, October 2003, Pages: 1672–1686, Erik G. Nelson and Raul Hinojosa

    Version of Record online : 3 SEP 2010, DOI: 10.1097/00005537-200310000-00006

  11. Beginning of a molecular era in hearing and deafness

    Clinical Genetics

    Volume 55, Issue 3, March 1999, Pages: 149–159, Nahid G Robertson and Cynthia C Morton

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550303.x

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    NMR structure of the LCCL domain and implications for DFNA9 deafness disorder

    The EMBO Journal

    Volume 20, Issue 19, October 1, 2001, Pages: 5347–5353, Edvards Liepinsh, Mária Trexler, Andrei Kaikkonen, Johan Weigelt, László Bányai, László Patthy and Gottfried Otting

    Version of Record online : 1 OCT 2001, DOI: 10.1093/emboj/20.19.5347

  13. Deafness

    Standard Article

    eLS

    Alessandro Terrinoni, Gerry Melino, Valeria Serra, Marco Alessandrini, Bianca Napolitano and Ernesto Bruno

    Published Online : 15 SEP 2009, DOI: 10.1002/9780470015902.a0001453.pub2

  14. Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 16, 15 August 2006, Pages: 1791–1794, Rob W.J. Collin, Robert J. Pauw, Jeroen Schoots, Patrick L.M. Huygen, Lies H. Hoefsloot, Cor W.R.J. Cremers and Hannie Kremer

    Version of Record online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31354

  15. You have free access to this content
    Ageing and hearing loss

    The Journal of Pathology

    Volume 211, Issue 2, January 2007, Pages: 188–197, XZ Liu and D Yan

    Version of Record online : 2 JAN 2007, DOI: 10.1002/path.2102

  16. A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss

    The Laryngoscope

    Volume 119, Issue 11, November 2009, Pages: 2211–2215, Michael S. Hildebrand, Adam P. DeLuca, Kyle R. Taylor, David P. Hoskinson, In Ae Hur, Dylan Tack, Sarah J. McMordie, Patrick L. M. Huygen, Thomas L. Casavant and Richard J. H. Smith

    Version of Record online : 24 SEP 2009, DOI: 10.1002/lary.20664

  17. Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families

    Clinical Genetics

    Volume 73, Issue 4, April 2008, Pages: 391–394, HJ Yuan, DY Han, Q Sun, D Yan, HJ Sun, R Tao, J Cheng, W Qin, S Angeli, XM Ouyang, SZ Yang, L Feng, JY Cao, GY Feng, YF Wang, P Dai, SQ Zhai, WY Yang, L He and XZ Liu

    Version of Record online : 28 FEB 2008, DOI: 10.1111/j.1399-0004.2008.00972.x

  18. A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 2, 1 December 2005, Pages: 86–95, Valerie A. Street, Jeremy C. Kallman, Nahid G. Robertson, Sharon F. Kuo, Cynthia C. Morton and James O. Phillips

    Version of Record online : 31 OCT 2005, DOI: 10.1002/ajmg.a.30980

  19. Whole exome sequencing identifies a novel DFNA9 mutation, C162Y

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 477–481, J Gao, J Xue, Li Chen, X Ke, Y Qi and Y Liu

    Version of Record online : 4 OCT 2012, DOI: 10.1111/cge.12006

  20. Deafness: Hereditary

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    eLS

    Jean-Pierre Hardelin, Jacqueline Levilliers and Christine Petit

    Published Online : 15 JUL 2008, DOI: 10.1002/9780470015902.a0005511.pub2