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There are 54876 results for: content related to: USH1C : a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele

  1. Genetic heterogeneity in Usher syndrome

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 1, 15 September 2004, Pages: 13–16, Bronya J.B. Keats and Sevtap Savas

    Version of Record online : 22 APR 2004, DOI: 10.1002/ajmg.a.30052

  2. The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

    Clinical Genetics

    Volume 63, Issue 4, April 2003, Pages: 303–307, DC Blaydon, RF Mueller, TP Hutchin, BP Leroy, SS Bhattacharya, AC Bird, S Malcolm and M Bitner-Glindzicz

    Version of Record online : 22 APR 2003, DOI: 10.1034/j.1399-0004.2003.00058.x

  3. 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

  4. 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

  5. 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

  6. 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-#

  7. 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

  8. 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

  9. 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

  10. You have free access to this content
    Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a

    Acta Ophthalmologica Scandinavica

    Volume 82, Issue 2, April 2004, Pages: 131–139, Ronald J. E. Pennings, Patrick L. M. Huygen, Dana J. Orten, Mariette Wagenaar, Annelies Van Aarem, Hannie Kremer, William J. Kimberling, Cor W. R. J. Cremers and August F. Deutman

    Version of Record online : 23 MAR 2004, DOI: 10.1111/j.1600-0420.2004.00234.x

  11. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

    Human Mutation

    Volume 17, Issue 1, 2001, Pages: 34–41, Ingrid Zwaenepoel, Elisabeth Verpy, Stéphane Blanchard, Moritz Meins, Eckart Apfelstedt-Sylla, Andreas Gal and Christine Petit

    Version of Record online : 22 DEC 2000, DOI: 10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O

  12. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

    Clinical Genetics

    Volume 75, Issue 1, January 2009, Pages: 86–91, ZM Ahmed, S Riazuddin, SN Khan, PL Friedman, S Riazuddin and TB Friedman

    Version of Record online : 25 MAY 2008, DOI: 10.1111/j.1399-0004.2008.01038.x

  13. Molecular Genetics of Usher Syndrome

    Standard Article


    Hannie Kremer and Erwin Wijk

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

  14. Sensory Defects Caused by Mutant Motor Proteins

    Standard Article

    Protein Science Encyclopedia

    Karen B. Avraham

    Published Online : 15 MAR 2008, DOI: 10.1002/9783527610754.md01

  15. The Perils and Possibilities of Wartime Neutrality on the Edges of Empire: Iroquois and Acadians between the French and British in North America, 1744–1760

    Diplomatic History

    Volume 31, Issue 2, April 2007, Pages: 167–206, Jon Parmenter and Mark Power Robison

    Version of Record online : 19 MAR 2007, DOI: 10.1111/j.1467-7709.2007.00611.x

  16. You have free access to this content
    Differential targeting of GSH1 and GSH2 is achieved by multiple transcription initiation: implications for the compartmentation of glutathione biosynthesis in the Brassicaceae

    The Plant Journal

    Volume 41, Issue 1, January 2005, Pages: 15–30, Andreas Wachter, Sebastian Wolf, Heike Steininger, Jochen Bogs and Thomas Rausch

    Version of Record online : 9 NOV 2004, DOI: 10.1111/j.1365-313X.2004.02269.x

  17. 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

  18. Contrasting styles of Taconian, Eastern Acadian and Western Acadian metamorphism, central and western New England

    Journal of Metamorphic Geology

    Volume 10, Issue 3, May 1992, Pages: 415–426, T. R. ARMSTRONG, R. J. TRACY and W. E. HAMES

    Version of Record online : 5 MAY 2007, DOI: 10.1111/j.1525-1314.1992.tb00093.x

  19. Non-syndromic, autosomal-recessive deafness

    Clinical Genetics

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

    Version of Record online : 27 APR 2006, DOI: 10.1111/j.1399-0004.2006.00613.x

  20. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

    Clinical Genetics

    Volume 77, Issue 6, June 2010, Pages: 563–571, MS Hildebrand, NP Thorne, CJ Bromhead, K Kahrizi, JA Webster, Z Fattahi, M Bataejad, WJ Kimberling, D Stephan, H Najmabadi, M Bahlo and RJH Smith

    Version of Record online : 4 FEB 2010, DOI: 10.1111/j.1399-0004.2009.01344.x