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There are 22217 results for: content related to: Mutation in the COCH gene is associated with superior semicircular canal dehiscence

  1. 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

    Article first published online : 31 OCT 2005, DOI: 10.1002/ajmg.a.30980

  2. 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

    Article first published online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31354

  3. 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

    Article first published online : 2 NOV 2010, DOI: 10.1002/lary.21159

  4. 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

    Article first published online : 11 JAN 2002, DOI: 10.1046/j.1365-2273.2001.00505.x

  5. You have free access to this content
    The LCCL module

    European Journal of Biochemistry

    Volume 267, Issue 18, September 2000, Pages: 5751–5757, Mária Trexler, László Bányai and László Patthy

    Article first published online : 25 DEC 2001, DOI: 10.1046/j.1432-1327.2000.01641.x

  6. 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

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22701

  7. You have free access to this content
    DFNA9 Is a Progressive Audiovestibular Dysfunction With a Microfibrillar Deposit in the Inner Ear

    The Laryngoscope

    Volume 110, Issue 8, August 2000, Pages: 1379–1384, Umang Khetarpal

    Article first published online : 2 JAN 2009, DOI: 10.1097/00005537-200008000-00030

  8. 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

    Article first published online : 28 FEB 2008, DOI: 10.1111/j.1399-0004.2008.00972.x

  9. The Trp117Arg mutation of the COCH gene causes deafness in Koreans

    Clinical Genetics

    Volume 77, Issue 4, April 2010, Pages: 399–403, J-I Baek, H-J Cho, S-J Choi, L-S Kim, C Zhao, BR Sagong, U-K Kim and S-W Jeong

    Article first published online : 16 MAR 2010, DOI: 10.1111/j.1399-0004.2009.01362.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

    Article first published online : 1 OCT 2001, DOI: 10.1093/emboj/20.19.5347

  11. Non-syndromic autosomal-dominant deafness

    Clinical Genetics

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

    Article first published online : 18 JUL 2002, DOI: 10.1034/j.1399-0004.2002.620101.x

  12. Exome Sequencing Identifies a Novel Frameshift Mutation of MYO6 as the Cause of Autosomal Dominant Nonsyndromic Hearing Loss in a Chinese Family

    Annals of Human Genetics

    Volume 78, Issue 6, November 2014, Pages: 410–423, Jing Cheng, Xueya Zhou, Yu Lu, Jing Chen, Bing Han, Yuhua Zhu, Liyang Liu, Kwong-Wai Choy, Dongyi Han, Pak C. Sham, Michael Q. Zhang, Xuegong Zhang and Huijun Yuan

    Article first published online : 17 SEP 2014, DOI: 10.1111/ahg.12084

  13. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 825–834, Michael S. Hildebrand, Matías Morín, Nicole C. Meyer, Fernando Mayo, Silvia Modamio-Hoybjor, Angeles Mencía, Leticia Olavarrieta, Carmelo Morales-Angulo, Carla J. Nishimura, Heather Workman, Adam P. DeLuca, Ignacio del Castillo, Kyle R. Taylor, Bruce Tompkins, Corey W. Goodman, Isabelle Schrauwen, Maarten Van Wesemael, K. Lachlan, A. Eliot Shearer, Terry A. Braun, Patrick L.M. Huygen, Hannie Kremer, Guy Van Camp, Felipe Moreno, Thomas L. Casavant, Richard J.H. Smith and Miguel A. Moreno-Pelayo

    Article first published online : 7 JUN 2011, DOI: 10.1002/humu.21512

  14. 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

    Article first published online : 18 FEB 2014, DOI: 10.1111/cge.12339

  15. 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

    Article first published online : 4 OCT 2012, DOI: 10.1111/cge.12006

  16. Progressive Cochleovestibular Impairment Caused by a Point Mutation in the COCH Gene at DFNA9

    The Laryngoscope

    Volume 109, Issue 9, September 1999, Pages: 1525–1530, Steven J.H. Bom, Martijn H. Kemperman, Yvonne J.M. De Kok, Patrick L.M. Huygen, Wim I.M. Verhagen, Frans P.M. Cremers and Cor W.R.J. Cremers

    Article first published online : 4 JAN 2009, DOI: 10.1097/00005537-199909000-00031

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    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

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    Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families

    Human Mutation

    Volume 17, Issue 4, April 2001, Page: 351, Maria Kamarinos, Jim McGill, Michael Lynch and Henrik Dahl

    Article first published online : 2 APR 2001, DOI: 10.1002/humu.37

  19. 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

    Article first published online : 24 SEP 2009, DOI: 10.1002/lary.20664

  20. Genetics of Cerebellar and Vestibular Disorders

    Standard Article

    eLS

    Carmen Martin-Sierra, Teresa Requena and Jose A Lopez-Escamez

    Published Online : 15 OCT 2014, DOI: 10.1002/9780470015902.a0025827