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Affichage: 6 résultats.
    • Article de périodique
    Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
    Audo, Isabelle Vanakker, Olivier M. Smith, Alaric Leroy, Bart P. Robson, Anthony G. Jenkins, Sharon A. Coucke, Paul J. Bird, Alan C. De Paepe, Anne Holder, Graham E. Webster, Andrew R. (2007) Investigative Ophthalmology & Visual Science — Vol. 48, no. 9, p. 4250-4256 (2007)
    • Communication
    Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
    De Baere, Elfride Beysen, Diane Oley, C De Sutter, P. Garza, Arturo Jonsrud, Christoffer Koivisto, Pasi A. Leroy, Bart P. Lorenz, B Meire, Françoise Plomp, Astrid Van Maldergem, Lionel De Paepe, Anne Cocquet, Julie Fellous, M Veitia, Reiner Messiaen, Ludwine (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE (Maryland)
    • Article de périodique
    The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations
    Dhamaraj, S Leroy, Bart P. Sohocki, MM Koenekoop, RK Perrault, I Anwar, K Khaliq, S Devi, RS Birch, DG De Pool, E Izquierdo, N Van Maldergem, L. Ismail, M Payne, AM Holder, GE Bhattacharya, SS Bird, AC Kaplan, J Maumenee, IH (2004) Archives of Ophthalmology — Vol. 122, no. 7, p. 1029-1037 (2004)
    • Article de périodique
    Prevalence of AIPL1 mutations in inherited retinal degenerative disease
    Sohocki, Melanie M. Perrault, Isabelle Leroy, Bart P. Payne, Annette M. Dharmaraj, Sharola Bhattacharya, Shomi S. Kaplan, Josseline Maumenee, Irene H. Koenekoop, Robert Meire, Françoise M. Birch, David G. Heckenlively, John R. Daiger, Stephen P. (2000) Molecular Genetics and Metabolism — Vol. 70, no. 2, p. 142-150 (2000)
    • Article de périodique
    FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    De Baere, Elfride Beysen, Diane Oley, Christine Lorenz, Birgit Cocquet, Julie De Sutter, Pascal[UCL] Devriendt, Koen Dixon, Michael Fellous, Marc Fryns, Jean-Pierre Garza, Arturo Jonsrud, Christoffer Koivisto, Pasi A. Krause, Amanda Leroy, Bart P. Meire, Françoise Plomp, Astrid Van Maldergem, Lionel De Paepe, Anne Veitia, Reiner Messiaen, Ludwine (2003) American Journal of Human Genetics — Vol. 72, no. 2, p. 478-487 (2003)
    • Communication
    Linkage analysis of autosomal dominant retinitis pigmentosa: Evidence for a novel disease locus
    Papaioannou, JG Koenekoop, RK Leroy, Bart P. Loyer, M Inglehearn, CF Bhattacharya, SS (2002) Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology — FT LAUDERDALE(Florida)