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There are 39144 results for: content related to: USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

  1. The Usher syndromes

    American Journal of Medical Genetics

    Volume 89, Issue 3, 24 September 1999, Pages: 158–166, Bronya J.B. Keats and David P. Corey

    Version of Record online : 6 MAR 2000, DOI: 10.1002/(SICI)1096-8628(19990924)89:3<158::AID-AJMG6>3.0.CO;2-#

  2. Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

    Clinical Genetics

    Volume 78, Issue 4, October 2010, Pages: 388–397, S Dad, E Østergaard, T Thykjær, A Albrectsen, K Ravn, T Rosenberg and LB Møller

    Version of Record online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01393.x

  3. You have full text access to this OnlineOpen article
    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Molecular Genetics & Genomic Medicine

    Volume 4, Issue 5, September 2016, Pages: 527–539, Shzeena Dad, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Karen Grønskov, Helena Gásdal Karstensen, Vigdis Brox, Øivind Nilssen, Anne-Françoise Roux, Thomas Rosenberg, Hanne Jensen and Lisbeth Birk Møller

    Version of Record online : 28 JUN 2016, DOI: 10.1002/mgg3.228

  4. Molecular Genetics of Usher Syndrome

    Standard Article

    eLS

    Hannie Kremer and Erwin Wijk

    Published Online : 15 MAR 2009, DOI: 10.1002/9780470015902.a0021456

  5. You have free access to this content
    Extended mutation spectrum of Usher syndrome in Finland

    Acta Ophthalmologica

    Volume 91, Issue 4, June 2013, Pages: 325–334, Hanna Västinsalo, Reetta Jalkanen, Carsten Bergmann, Christine Neuhaus, Leenamaija Kleemola, Liisa Jauhola, Hanno Jörn Bolz and Eeva-Marja Sankila

    Version of Record online : 8 JUN 2012, DOI: 10.1111/j.1755-3768.2012.02397.x

  6. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function

    Human Mutation

    Volume 29, Issue 4, April 2008, Pages: 502–511, Saima Riazuddin, Sabiha Nazli, Zubair M. Ahmed, Yi Yang, Fareeha Zulfiqar, Rehan S. Shaikh, Ahmed U. Zafar, Shaheen N. Khan, Farooq Sabar, Fouzia T. Javid, Edward R. Wilcox, Ekaterini Tsilou, Erich T. Boger, James R. Sellers, Inna A. Belyantseva, Sheikh Riazuddin and Thomas B. Friedman

    Version of Record online : 7 JAN 2008, DOI: 10.1002/humu.20677

  7. The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome

    Clinical Genetics

    S. Kletke, V. Batmanabane, T. Dai, A. Vincent, S. Li, K.A. Gordon, B.C. Papsin, S.L. Cushing and E. Héon

    Version of Record online : 16 JAN 2017, DOI: 10.1111/cge.12895

  8. You have full text access to this OnlineOpen article
    Experience of targeted Usher exome sequencing as a clinical test

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 1, January 2014, Pages: 30–43, Thomas Besnard, Gema García-García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, Jose M. Millan, Sue Malcolm, Mireille Claustres and Anne-Françoise Roux

    Version of Record online : 10 JUL 2013, DOI: 10.1002/mgg3.25

  9. The molecular genetics of Usher syndrome

    Clinical Genetics

    Volume 63, Issue 6, June 2003, Pages: 431–444, ZM Ahmed, S Riazuddin, S Riazuddin and ER Wilcox

    Version of Record online : 3 JUN 2003, DOI: 10.1034/j.1399-0004.2003.00109.x

  10. Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation

    Clinical Genetics

    Volume 68, Issue 3, September 2005, Pages: 204–214, S Bernal, C Medà, T Solans, C Ayuso, B Garcia-Sandoval, D Valverde, E Del Rio and M Baiget

    Version of Record online : 25 JUL 2005, DOI: 10.1111/j.1399-0004.2005.00481.x

  11. Clinical diagnosis of the Usher syndromes

    American Journal of Medical Genetics

    Volume 50, Issue 1, 1 March 1994, Pages: 32–38, R. J. H. Smith, C. I. Berlin, J. F. Hejtmancik, B. J. B. Keats, W. J. Kimberling, R. A. Lewis, C. G. Möller, M. Z. Pelias and L. Tranebjærǵ

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320500107

  12. Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice

    International Journal of Experimental Pathology

    Volume 92, Issue 1, February 2011, Pages: 66–71, Denise Yan, Kazusaku Kamiya, Xiao Mei Ouyang and Xue Zhong Liu

    Version of Record online : 13 DEC 2010, DOI: 10.1111/j.1365-2613.2010.00751.x

  13. Mutational spectrum in Usher syndrome type II

    Clinical Genetics

    Volume 65, Issue 4, April 2004, Pages: 288–293, XM Ouyang, D Yam, JF Hejtmancik, SG Jacobson, AR Li, LL Du, S Angeli, M Kaiser, T Balkany and XZ Liu

    Version of Record online : 16 FEB 2004, DOI: 10.1046/j.1399-0004.2004.00216.x

  14. You have full text access to this OnlineOpen article
    A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation

    EMBO Molecular Medicine

    Volume 4, Issue 11, November 2012, Pages: 1186–1199, Tobias Goldmann, Nora Overlack, Fabian Möller, Valery Belakhov, Michiel van Wyk, Timor Baasov, Uwe Wolfrum and Kerstin Nagel-Wolfrum

    Version of Record online : 2 OCT 2012, DOI: 10.1002/emmm.201201438

  15. Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2

    Clinical Genetics

    Volume 76, Issue 4, October 2009, Pages: 383–391, H Nakanishi, M Ohtsubo, S Iwasaki, Y Hotta, K Mizuta, H Mineta and S Minoshima

    Version of Record online : 8 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01257.x

  16. USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele

    Clinical Genetics

    Volume 63, Issue 2, February 2003, Pages: 150–153, XM Ouyang, JF Hejtmancik, SG Jacobson, XJ Xia, A Li, LL Du, V Newton, M Kaiser, T Balkany, WE Nance and X-Z Liu

    Version of Record online : 10 MAR 2003, DOI: 10.1046/j.0009-9163.2002.00004.x

  17. Haplotype analysis of the USH1D locus and genotype–phenotype correlations

    Clinical Genetics

    Volume 60, Issue 1, July 2001, Pages: 58–62, X-Z Liu, SH Blanton, M Bitner-Glindzicz, A Pandya, B Landa, B MacArdle, K Rajput, S Bellman, BT Webb, X Ping, RJH Smith and WE Nance

    Version of Record online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.600109.x

  18. Clinical variability and genetic heterogeneity within the Acadian Usher population

    American Journal of Medical Genetics

    Volume 43, Issue 6, 1 August 1992, Pages: 964–969, Richard J. H. Smith, Mary Z. Pelias, Stephen P. Daiger, Bronya Keats, William Kimberling and J. Fielding Hejtmancik

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320430612

  19. Functional analysis of splicing mutations in MYO7A and USH2A genes

    Clinical Genetics

    Volume 79, Issue 3, March 2011, Pages: 282–288, T Jaijo, E Aller, MJ Aparisi, G García-García, I Hernan, MJ Gamundi, C Nájera, M Carballo and JM Millán

    Version of Record online : 23 APR 2010, DOI: 10.1111/j.1399-0004.2010.01454.x

  20. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 104–108, Christel Vaché, Thomas Besnard, Pauline le Berre, Gema García-García, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Hanno Jörn Bolz, Jose Millan, Christian Hamel, Sue Malcolm, Mireille Claustres and Anne-Françoise Roux

    Version of Record online : 16 NOV 2011, DOI: 10.1002/humu.21634