Search Results - "KOENEKOOP, RK"

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

“…Leber congenital amaurosis is a congenital retinal dystrophy described almost 150 years ago. Today, Leber congenital amaurosis is proving instrumental in our…”
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WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome by 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

“…Autosomal recessive retinitis pigmentosa (arRP) is a clinically and genetically heterogeneous retinal disease that causes blindness. Our purpose was to…”
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A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration by 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

“…OBJECTIVEThe aim of the study was to investigate the role of single-nucleotide polymorphisms (SNPs) located in the neuropilin-1 (NRP1) gene in treatment…”
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Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles by 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

“…Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth…”
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CRB1 mutation spectrum in inherited retinal dystrophies by 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.

“…Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis…”
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Evaluation of genotype-phenotype associations in leber congenital amaurosis by Galvin, Jennifer A, Fishman, Gerald A, Stone, Edwin M, Koenekoop, Robert K

“…To describe the clinical phenotypes associated with various genotypes known to cause Leber congenital amaurosis (LCA). One hundred ten LCA patients were…”
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Genetics of Leber congenital amaurosis by DEN HOLLANDER, AI, ROEPMAN, R, KOENEKOOP, RK, CREMERS, FPM

“…Purpose To give an overview of our current knowledge of the genetic causes of Leber congenital amaurosis (LCA). Methods Current literature on the genetic…”
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Sequencing Arrays for Screening Multiple Genes Associated with Early-Onset Human Retinal Degenerations on a High-Throughput Platform by Mandal, Md Nawajes A, Heckenlively, John R, Burch, Tracy, Chen, Lianchun, Vasireddy, Vidyullatha, Koenekoop, Robert K, Sieving, Paul A, Ayyagari, Radha

“…To develop and apply microarray-based resequencing technology to detect sequence alterations in multiple autosomal recessive retinal disease genes on a single…”
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Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families by Koenekoop, Robert K, Loyer, Magali, Hand, Collette K, Al Mahdi, Huda, Dembinska, Olga, Beneish, Raquel, Racine, Julie, Rouleau, Guy A

“…To characterize the molecular defects in two x-linked retinitis pigmentosa (RP) families. We hypothesized that different RPGR mutations result in distinct RP…”
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Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis by 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

“…Mutations in the Crumbs homolog 1 (CRB1) gene cause autosomal recessive retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). Database searches…”
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Clinical phenotypes in carriers of Leber congenital amaurosis mutations by Galvin, Jennifer A, Fishman, Gerald A, Stone, Edwin M, Koenekoop, Robert K

“…To determine the clinical phenotypes in carriers with probable disease-causing sequence variations in 1 of 6 genes established to cause Leber congenital…”
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The photopic ERG luminance-response function (photopic hill): method of analysis and clinical application by Rufiange, Marianne, Dassa, Justine, Dembinska, Olga, Koenekoop, Robert K., Little, John M., Polomeno, Robert C., Dumont, Marie, Chemtob, Sylvain, Lachapelle, Pierre

“…With progressively brighter stimuli, the amplitude of the photopic b-wave first increases, briefly saturates and then decreases gradually to reach a plateau,…”
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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 by 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

“…Molecular analysis Venous blood was collected and DNA was extracted using a previously described protocol. 12 DNA was analysed using the highly polymorphic DNA…”
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A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p by PAPAIOANNOU, Myrto, CHAKAROVA, Christina F, PRESCOTT, De Quincy C, WASEEM, Naushin, THEIS, Thorsten, LOPEZ, Irma, GILL, Bhavdip, KOENEKOOP, Robert K, BHATTACHARYA, Shomi S

“…Retinitis pigmentosa (RP) is a debilitating disease of the retina affecting approximately 1.5 million people worldwide. RP shows remarkable heterogeneity both…”
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Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects by Tucker, Chandra L, Ramamurthy, Visvanathan, Pina, Ana-Luisa, Loyer, Magali, Dharmaraj, Sharola, Li, Yingying, Maumenee, Irene H, Hurley, James B, Koenekoop, Robert K

“…Recessive mutations in GUCY2D, the gene encoding the retinal guanylyl cyclase protein, RetGC-1, have been shown to cause Leber Congenital Amaurosis (LCA), a…”
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A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene by Piña, Ana Luisa, Baumert, Uwe, Loyer, Magali, Koenekoop, Robert K

“…Cone transducin plays an important role in interacting with the cone photoreceptor visual pigments and activating the cGMP-dependent phosphodiesterase. The…”
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Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12 by Kerrison, John B., Koenekoop, Robert K., Arnould, Véronique J., Zee, David, Maumenee, Irene H.

“…To describe the clinical features of a large pedigree with autosomal dominant congenital nystagmus linked to chromosome 6p12. In a prospective evaluation of 54…”
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Mathematical analysis of the cone ERG photopic hill: Clinical applications by LACHAPELLE, P, GARON, M, JAUFFRET, C, RUFIANGE, M, HAMILTON, R, MCCULLOCH, C, KOENEKOOP, RK, POLOMENO, RC, LITTLE, JM

“…Purpose: With brighter stimuli, the photopic ERG b‐wave increases to a maximal value and then decreases to a plateau, a feature known as the Photopic Hill…”
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Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child by Nguyen, Tuong-Nam, Der Kaloustian, Vazken M., Barsoum-Homsy, Magda, Dembinska, Olga, Koenekoop, Robert K.

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

“…Congenital nystagmus is an idiopathic disorder characterized by bilateral ocular oscillations usually manifest during infancy. Vision is typically decreased…”
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