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There are 17673 results for: content related to: Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

  1. Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

    Human Mutation

    Volume 37, Issue 2, February 2016, Pages: 184–193, Alessandro Liquori, Christel Vaché, David Baux, Catherine Blanchet, Christian Hamel, Sue Malcolm, Michel Koenig, Mireille Claustres and Anne-Françoise Roux

    Version of Record online : 23 NOV 2015, DOI: 10.1002/humu.22926

  2. Non-USH2A mutations in USH2 patients

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 504–510, Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel, Hélène Dollfus, Geneviève Lina-Granade, James Lespinasse, Albert David, Bertrand Isidor, Gilles Morin, Sue Malcolm, Sylvie Tuffery-Giraud, Mireille Claustres and Anne-Françoise Roux

    Version of Record online : 6 JAN 2012, DOI: 10.1002/humu.22004

  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. 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

  5. Audiological findings in 100 USH2 patients

    Clinical Genetics

    Volume 82, Issue 5, November 2012, Pages: 433–438, C Abadie, C Blanchet, D Baux, L Larrieu, T Besnard, P Ravel, R Biboulet, C Hamel, S Malcolm, M Mondain, M Claustres and A-F Roux

    Version of Record online : 30 SEP 2011, DOI: 10.1111/j.1399-0004.2011.01772.x

  6. You have free access to this content
    USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II

    Human Mutation

    Volume 24, Issue 2, August 2004, Page: 185, Ronald J.E. Pennings, Heleen te Brinke, Michael D. Weston, Annemarie Claassen, Dana J. Orten, Henriëtte Weekamp, Annelies van Aarem, Patrick L.M. Huygen, August F. Deutman, Lies H. Hoefsloot, Frans P.M. Cremers, Cor W.R.J. Cremers, William J. Kimberling and Hannie Kremer

    Version of Record online : 30 JUN 2004, DOI: 10.1002/humu.9259

  7. 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

  8. You have full text access to this OnlineOpen article
    Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 5, September 2014, Pages: 393–401, Peter M. Krawitz, Daniela Schiska, Ulrike Krüger, Sandra Appelt, Verena Heinrich, Dmitri Parkhomchuk, Bernd Timmermann, Jose M. Millan, Peter N. Robinson, Stefan Mundlos, Jochen Hecht and Manfred Gross

    Version of Record online : 15 JUN 2014, DOI: 10.1002/mgg3.92

  9. 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

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    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

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    Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II

    Human Mutation

    Volume 29, Issue 3, March 2008, Page: 451, Bo Dreyer, Vigdis Brox, Lisbeth Tranebjærg, Thomas Rosenberg, Andrè M. Sadeghi, Claes Möller and Øivind Nilssen

    Version of Record online : 13 FEB 2008, DOI: 10.1002/humu.9524

  12. 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

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    Mutations in Myosin VIIA (MYO7A) and Usherin (USH2A) in Spanish patients with usher syndrome types I and II, respectively

    Human Mutation

    Volume 20, Issue 1, July 2002, Pages: 76–77, Carmen Nájera, Magdalena Beneyto, José Blanca, Elena Aller, Ana Fontcuberta, José María Millán and Carmen Ayuso

    Version of Record online : 27 JUN 2002, DOI: 10.1002/humu.9042

  14. 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

  15. 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

  16. Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1179–1186, David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau, Sue Malcolm, Mireille Claustres and Anne-Françoise Roux

    Version of Record online : 15 JUL 2014, DOI: 10.1002/humu.22608

  17. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

    Human Mutation

    Volume 28, Issue 8, August 2007, Pages: 781–789, David Baux, Lise Larrieu, Catherine Blanchet, Christian Hamel, Safouane Ben Salah, Anne Vielle, Brigitte Gilbert-Dussardier, Muriel Holder, Patrick Calvas, Nicole Philip, Patrick Edery, Dominique Bonneau, Mireille Claustres, Sue Malcolm and Anne-Françoise Roux

    Version of Record online : 2 APR 2007, DOI: 10.1002/humu.20513

  18. 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

  19. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1597–1600, María González-del Pozo, Nereida Bravo-Gil, Cristina Méndez-Vidal, Ignacio Montero-de-Espinosa, José M Millán, Joaquín Dopazo, Salud Borrego and Guillermo Antiñolo

    Version of Record online : 30 MAR 2015, DOI: 10.1002/ajmg.a.37003

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    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