Search Results

There are 2935 results for: content related to: Next-generation genetic testing for retinitis pigmentosa

  1. Retinitis pigmentosa: problems associated with genetic classification

    Clinical Genetics

    Volume 44, Issue 2, August 1993, Pages: 62–70, Marianne Haim

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1993.tb03848.x

  2. 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

  3. You have free access to this content
    Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options

    Clinical and Experimental Optometry

    Volume 87, Issue 2, March 2004, Pages: 65–80, Michael Kalloniatis and Erica L. Fletcher

    Version of Record online : 9 JUN 2009, DOI: 10.1111/j.1444-0938.2004.tb03152.x

  4. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

    Human Mutation

    Volume 17, Issue 1, 2001, Pages: 42–51, Melanie M. Sohocki, Stephen P. Daiger, Sara J. Bowne, Joseph A. Rodriquez, Hope Northrup, John R. Heckenlively, David G. Birch, Helen Mintz-Hittner, Richard S. Ruiz, Richard A. Lewis, David A. Saperstein and Lori S. Sullivan

    Version of Record online : 22 DEC 2000, DOI: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K

  5. CRB1 mutations in inherited retinal dystrophies

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 306–315, Kinga Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Thierry Léveillard, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi S. Bhattacharya and Christina Zeitz

    Version of Record online : 27 DEC 2011, DOI: 10.1002/humu.21653

  6. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1450–1459, Xia Wang, Hui Wang, Ming Cao, Zhe Li, Xianfeng Chen, Claire Patenia, Athurva Gore, Emad B. Abboud, Ali A. Al-Rajhi, Richard A. Lewis, James R. Lupski, Graeme Mardon, Kun Zhang, Donna Muzny, Richard A. Gibbs and Rui Chen

    Version of Record online : 23 SEP 2011, DOI: 10.1002/humu.21587

  7. The complexities of ocular genetics

    Clinical Genetics

    Volume 61, Issue 2, February 2002, Pages: 79–88, RA Saleem and MA Walter

    Version of Record online : 3 APR 2002, DOI: 10.1034/j.1399-0004.2002.610201.x

  8. Determination of Genomic Locations of Target Genetic Loci

    Gene Discovery for Disease Models

    Weikuan Gu, Yongjun Wang, Pages: 111–138, 2012

    Published Online : 10 FEB 2012, DOI: 10.1002/9780470933947.ch7

  9. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1537–1546, Donna S. Mackay, Arundhati Dev Borman, Ruifang Sui, L. Ingeborgh van den Born, Eliot L. Berson, Louise A. Ocaka, Alice E. Davidson, John R. Heckenlively, Kari Branham, Huanan Ren, Irma Lopez, Maleeha Maria, Maleeha Azam, Arjen Henkes, Ellen Blokland, [LCA5 Study Group (see Acknowledgments for Universities), Sten Andreasson, Elfride de Baere, Jean Bennett, Gerald J. Chader, Wolfgang Berger, Irina Golovleva, Jacquie Greenberg, Anneke I. den Hollander, Caroline C.W. Klaver, B. Jeroen Klevering, Birgit Lorenz, Markus N. Preising, Raj Ramesar, Lisa Roberts, Ronald Roepman, Klaus Rohrschneider, Bernd Wissinger], Raheel Qamar, Andrew R. Webster, Frans P.M. Cremers, Anthony T. Moore and Robert K. Koenekoop

    Version of Record online : 17 SEP 2013, DOI: 10.1002/humu.22398

  10. You have free access to this content
    The epidemiology of retinitis pigmentosa in Denmark

    Acta Ophthalmologica Scandinavica

    Volume 80, Issue s233, February 2002, Pages: 1–34, Marianne Haim

    Version of Record online : 12 FEB 2002, DOI: 10.1046/j.1395-3907.2002.00001.x

  11. You have free access to this content
    Progression of neuronal and synaptic remodeling in the rd10 mouse model of retinitis pigmentosa

    Journal of Comparative Neurology

    Volume 518, Issue 11, 1 June 2010, Pages: 2071–2089, M. Joseph Phillips, Deborah C. Otteson and David M. Sherry

    Version of Record online : 20 JAN 2010, DOI: 10.1002/cne.22322

  12. Retinitis pigmentosa and allied disorders in Denmark

    Acta Ophthalmologica

    Volume 71, Issue 5, October 1993, Pages: 597–605, Marianne Haim and Thomas Rosenberg

    Version of Record online : 27 MAY 2009, DOI: 10.1111/j.1755-3768.1993.tb04648.x

  13. You have full text access to this Open Access content
    shRNA knockdown of guanylate cyclase 2e or cyclic nucleotide gated channel alpha 1 increases photoreceptor survival in a cGMP phosphodiesterase mouse model of retinitis pigmentosa

    Journal of Cellular and Molecular Medicine

    Volume 15, Issue 8, August 2011, Pages: 1778–1787, Joaquin Tosi, Richard J. Davis, Nan-Kai Wang, Matthew Naumann, Chyuan-Sheng Lin and Stephen H. Tsang

    Version of Record online : 13 JUL 2011, DOI: 10.1111/j.1582-4934.2010.01201.x

  14. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1460–1469, Gabriella Esposito, Francesca De Falco, Nadia Tinto, Francesco Testa, Luigi Vitagliano, Igor Cristian Maria Tandurella, Lucio Iannone, Settimio Rossi, Ernesto Rinaldi, Francesca Simonelli, Adriana Zagari and Francesco Salvatore

    Version of Record online : 11 OCT 2011, DOI: 10.1002/humu.21591

  15. You have free access to this content
    Inappropriate judgements?

    Clinical and Experimental Optometry

    Volume 80, Issue 4, July 1997, Pages: 118–120, Vaegan

    Version of Record online : 23 APR 2009, DOI: 10.1111/j.1444-0938.1997.tb04864.x

  16. CRB1 mutation spectrum in inherited retinal dystrophies

    Human Mutation

    Volume 24, Issue 5, November 2004, Pages: 355–369, Anneke I. den Hollander, Jason Davis, Saskia D. van der Velde-Visser, Marijke N. Zonneveld, Chiara O. Pierrottet, Robert K. Koenekoop, Ulrich Kellner, L. Ingeborgh van den Born, John R. Heckenlively, Carel B. Hoyng, Penny A. Handford, Ronald Roepman and Frans P.M. Cremers

    Version of Record online : 30 SEP 2004, DOI: 10.1002/humu.20093

  17. You have free access to this content
    Embryonic and not maternal trisomy causes developmental attenuation in the Ts65Dn mouse model for Down syndrome

    Developmental Dynamics

    Volume 239, Issue 6, June 2010, Pages: 1645–1653, Joshua D. Blazek, Cherie N. Billingsley, Abby Newbauer and Randall J. Roper

    Version of Record online : 9 APR 2010, DOI: 10.1002/dvdy.22295

  18. You have free access to this content
    The human phosphodiesterase PDE10A gene

    European Journal of Biochemistry

    Volume 267, Issue 19, October 2000, Pages: 5943–5951, Kotomi Fujishige, Jun Kotera, Keizo Yuasa and Kenji Omori

    Version of Record online : 25 DEC 2001, DOI: 10.1046/j.1432-1327.2000.01661.x

  19. You have free access to this content
    Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy

    Acta Ophthalmologica Scandinavica

    Volume 79, Issue 4, August 2001, Pages: 359–365, Maija Mäntyjärvi, Piia Nurmenniemi, Juhani Partanen, Terttu Myöhänen, Maarit Peippo and Tiina Alitalo

    Version of Record online : 20 DEC 2001, DOI: 10.1034/j.1600-0420.2001.079004359.x

  20. Rearrangement of chromosome 15 in the region q11.2[RIGHTWARDS ARROW]q12 in an individual with obesity syndrome and her normal mother

    American Journal of Medical Genetics

    Volume 37, Issue 2, October 1990, Pages: 173–177, M. Shohat, T. Shohat, D. L. Rimoin, T. Mohandas, J. Heckenlively, R. E. Magenis, M. B. Davidson and Dr. J. R. Korenberg

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.1320370203