An overview of leber congenital amaurosis: a model to understand human retinal development von Koenekoop, Robert K

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WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome von Coussa, R G, Otto, E A, Gee, H-Y, Arthurs, P, Ren, H, Lopez, I, Keser, V, Fu, Q, Faingold, R, Khan, A, Schwartzentruber, J, Majewski, J, Hildebrandt, F, Koenekoop, R K

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Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles von Zernant, Jana, Kulm, Maigi, Dharmaraj, Sharola, den Hollander, Anneke I, Perrault, Isabelle, Preising, Markus N, Lorenz, Birgit, Kaplan, Josseline, Cremers, Frans P. M, Maumenee, Irene, Koenekoop, Robert K, Allikmets, Rando

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A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration von Lorés-Motta, Laura, van Asten, Freekje, Muether, Philipp S, Smailhodzic, Dzenita, Groenewoud, Joannes M, Omar, Amer, Chen, John, Koenekoop, Robert K, Fauser, Sascha, Hoyng, Carel B, den Hollander, Anneke I, de Jong, Eiko K

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CRB1 mutation spectrum in inherited retinal dystrophies von den Hollander, Anneke I., Davis, Jason, van der Velde-Visser, Saskia D., Zonneveld, Marijke N., Pierrottet, Chiara O., Koenekoop, Robert K., Kellner, Ulrich, van den Born, L. Ingeborgh, Heckenlively, John R., Hoyng, Carel B., Handford, Penny A., Roepman, Ronald, Cremers, Frans P.M.

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Sequencing Arrays for Screening Multiple Genes Associated with Early-Onset Human Retinal Degenerations on a High-Throughput Platform von Mandal, Md Nawajes A, Heckenlively, John R, Burch, Tracy, Chen, Lianchun, Vasireddy, Vidyullatha, Koenekoop, Robert K, Sieving, Paul A, Ayyagari, Radha

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Genetics of Leber congenital amaurosis von DEN HOLLANDER, AI, ROEPMAN, R, KOENEKOOP, RK, CREMERS, FPM

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Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families von Koenekoop, Robert K, Loyer, Magali, Hand, Collette K, Al Mahdi, Huda, Dembinska, Olga, Beneish, Raquel, Racine, Julie, Rouleau, Guy A

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Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis von van den Hurk, José A J M, Rashbass, Penny, Roepman, Ronald, Davis, Jason, Voesenek, Krysta E J, Arends, Maarten L, Zonneveld, Marijke N, van Roekel, Marga H G, Cameron, Karen, Rohrschneider, Klaus, Heckenlively, John R, Koenekoop, Robert K, Hoyng, Carel B, Cremers, Frans P M, den Hollander, Anneke I

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Clinical phenotypes in carriers of Leber congenital amaurosis mutations von Galvin, Jennifer A., Fishman, Gerald A., Stone, Edwin M., Koenekoop, Robert K.

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The photopic ERG luminance-response function (photopic hill): method of analysis and clinical application von Rufiange, Marianne, Dassa, Justine, Dembinska, Olga, Koenekoop, Robert K., Little, John M., Polomeno, Robert C., Dumont, Marie, Chemtob, Sylvain, Lachapelle, Pierre

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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population von Yzer, S, van den Born, L I, Schuil, J, Kroes, H Y, van Genderen, M M, Boonstra, F N, van den Helm, B, Brunner, H G, Koenekoop, R K, Cremers, F P M

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A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p von PAPAIOANNOU, Myrto, CHAKAROVA, Christina F, PRESCOTT, De Quincy C, WASEEM, Naushin, THEIS, Thorsten, LOPEZ, Irma, GILL, Bhavdip, KOENEKOOP, Robert K, BHATTACHARYA, Shomi S

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Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects von Tucker, Chandra L, Ramamurthy, Visvanathan, Pina, Ana-Luisa, Loyer, Magali, Dharmaraj, Sharola, Li, Yingying, Maumenee, Irene H, Hurley, James B, Koenekoop, Robert K

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A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene von Piña, Ana Luisa, Baumert, Uwe, Loyer, Magali, Koenekoop, Robert K

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Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12 von Kerrison, John B., Koenekoop, Robert K., Arnould, Véronique J., Zee, David, Maumenee, Irene H.

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A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12 von Kerrison, John B., Arnould, Véronique J., Barmada, M.Michael, Koenekoop, Robert K., Schmeckpeper, Barbara J., Maumenee, Irene H.

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Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p von Damji, Karim F., MD, Sohocki, Melanie M., PhD, Khan, Ravesh, MB BS, Gupta, Sanjoy K., MD, PhD, Rahim, Musa, MB BS, MHA, Loyer, Magali, MSc, Hussein, Naushad, MD, Karim, Nermin, OD, Ladak, Shenif S., MD, Jamal, Alnoor, MS, Bulman, Dennis, PhD, Koenekoop, Robert K., MD, PhD

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Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child von Nguyen, Tuong-Nam, Der Kaloustian, Vazken M., Barsoum-Homsy, Magda, Dembinska, Olga, Koenekoop, Robert K.

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The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations von Dharmaraj, Sharola, Leroy, Bart P, Sohocki, Melanie M, Koenekoop, Robert K, Perrault, Isabelle, Anwar, Khalid, Khaliq, Shagufta, Devi, R. Summathi, Birch, David G, De Pool, Elaine, Izquierdo, Natalio, Van Maldergem, Lionel, Ismail, Mohammad, Payne, Annette M, Holder, Graham E, Bhattacharya, Shomi S, Bird, Alan C, Kaplan, Josseline, Maumenee, Irene H

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