Research Topics
Genomes and GenesSpecies | Robert Karel KoenekoopSummaryAffiliation: McGill University Country: Canada Publications
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Detail Information
Publications
Visual improvement in Leber congenital amaurosis and the CRX genotypeRobert K Koenekoop
The Children s Vision Center, Montreal Children s Hospital and Research Institute, McGill University, Montreal, PQ, Canada
Ophthalmic Genet 23:49-59. 2002..We identified a heterozygous CRX mutation in an affected mother and son, and describe the ocular phenotype of the proband from birth through infancy to age 11 years...- Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutationsRobert K Koenekoop
McGill Ocular Genetics Laboratory, Montreal Children s Hospital, McGill University, Montreal, Quebec, Canada
Arch Ophthalmol 120:1325-30. 2002..In the future, LCA may become treatable by gene and/or pharmacological intervention, and these therapies will likely be gene specific, giving major significance to rapid gene identification and gene-phenotype studies... - Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian familiesRobert K Koenekoop
McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
Am J Ophthalmol 136:678-87. 2003..To characterize the molecular defects in two x-linked retinitis pigmentosa (RP) families. We hypothesized that different RPGR mutations result in distinct RP phenotypes... - Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic childTuong-Nam Nguyen
Children's Vision Centre, McGill University Health Centre, Montreal, Que
Can J Ophthalmol 40:195-9. 2005 - Evaluation of genotype-phenotype associations in leber congenital amaurosisJennifer A Galvin
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
Retina 25:919-29. 2005..These findings have practical value for genetic screening strategies for LCA patients based upon phenotype as well as for counseling patients on their visual prognosis... 
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian populationInga Ebermann
Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
Genome Biol 8:R47. 2007..We hypothesized that founder mutations in USH1 genes exist in this population...- Choroideremia is caused by a defective phagocytosis by the RPE of photoreceptor disc membranes, not by an intrinsic photoreceptor defectRobert K Koenekoop
McGill Ocular Genetics Center, McGill University Health Center, Montreal, Canada
Ophthalmic Genet 28:185-6. 2007 - Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutionsRobert K Koenekoop
McGill Ocular Genetics Center, McGill University Health Center, Montreal, Quebec, Canada
Clin Experiment Ophthalmol 35:473-85. 2007..Genetic testing will then become standard practice to complement the ophthalmic evaluation... - RPGRIP1 is mutated in Leber congenital amaurosis: a mini-reviewRobert K Koenekoop
McGill Ocular Genetics Laboratory, Montreal Children s Hospital Research Institute, McGill University Health Center, Montreal, Canada
Ophthalmic Genet 26:175-9. 2005..Thus far RPGRIP1 appears to be only mutated in LCA and is associated with 6% of LCA in two series. The purpose of this review is to highlight recent advances in our understanding of RPGRIP1 function in normal and diseased retinas... - CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosisSuzanne Yzer
McGill Ocular Genetics Centre, Division of Ophthalmology, Montreal, Quebec, Canada
Invest Ophthalmol Vis Sci 47:3736-44. 2006.... - A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin geneAna Luisa Pina
McGill Ocular Genetics Laboratory, Montreal Children s Hospital Research Institute, McGill University, Montreal, PQ, Canada
Mol Vis 10:265-71. 2004..In this study we tested the hypothesis that mutations in GNAT2 cause cone-rod degeneration (CRD)... - Abnormal retinal architecture in a 33-week-old fetus with LCA and a homozygous C330Y mutation in RPE65Robert K Koenekoop
Department of Ophthalmology, McGill University, Montreal Children's Hospital, Montreal, Quebec, Canada
Ophthalmic Genet 24:125-6. 2003 - An overview of Leber congenital amaurosis: a model to understand human retinal developmentRobert K Koenekoop
McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada
Surv Ophthalmol 49:379-98. 2004..Gene therapy for RPE65 deficient dogs partially restored sight, and provides the first real hope of treatment for this devastating blinding condition... - The photopic ERG luminance-response function (photopic hill): method of analysis and clinical applicationMarianne Rufiange
Department of Ophthalmology (D-164, McGill University, Montreal Children's Hospital Research Institute, 2300 Tupper Street, Que, H3H 1P3, Montreal, Canada
Vision Res 43:1405-12. 2003..The clinical usefulness of these parameters is illustrated with selected cases of retinal disorders... - The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-reviewRobert K Koenekoop
Department of Ophthalmology, McGill University, Montreal Children's Hospital, 2300 Tupper, Montreal, Quebec H3H 1P3, Canada
Ophthalmic Genet 24:75-80. 2003..These hypotheses were tested by Radu and colleagues in the mouse and shown to be efficacious... 
Optimal compliance for amblyopia therapy: occlusion with a translucent tape on the lensRaquel G Beneish
Children s Vision Centre, Montreal Children s Hospital, Montreal, Que
Can J Ophthalmol 44:523-8. 2009..To demonstrate that optimal compliance to amblyopia therapy and a better visual outcome can be achieved by occluding the lens over the preferred eye with a translucent tape...- Why some photoreceptors die, while others remain dormant: lessons from RPE65 and LRAT associated retinal dystrophiesRobert K Koenekoop
McGill Ocular Genetics Laboratory, McGill University, Montreal, Canada
Ophthalmic Genet 32:126-8. 2011..Knockout out of Bax revealed rescue from apoptosis, indicating that bax inhibition may be an avenue for pharmocological intervention... - Why do cone photoreceptors die in rod-specific forms of retinal degenerations?Robert K Koenekoop
McGill Ocular Genetics Laboratory, McGill University Health Center, Montreal, Quebec, Canada
Ophthalmic Genet 30:152-4. 2009..determined that cone death is due to nutritional deficiencies, starration, and autophagy driven by the insulin/mTOR pathway. These novel and exciting seights also provide alternative avenues for therapeutic interventions for cone rescue... - Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platformMd Nawajes A Mandal
Department of Ophthalmology and Visual Sciences, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
Invest Ophthalmol Vis Sci 46:3355-62. 2005..To develop and apply microarray-based resequencing technology to detect sequence alterations in multiple autosomal recessive retinal disease genes on a single high-throughput platform... - Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effectsChandra L Tucker
Department of Biochemistry, University of Washington, Seattle, WA, USA
Mol Vis 10:297-303. 2004..The mutations investigated in this study map to the catalytic domain (P858S, L954P) and the extracellular domain (C105Y, L325P) of RetGC-1... - Successful RPE65 gene replacement and improved visual function in humansRobert K Koenekoop
Ophthalmic Genet 29:89-91. 2008..These spectacular results will now stimulate further investigations of younger patients, higher dosages, and clinically or genetically related retinal disorders... - Leber congenital amaurosis: genes, proteins and disease mechanismsAnneke I den Hollander
Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Prog Retin Eye Res 27:391-419. 2008.... - Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke I den Hollander
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Invest Ophthalmol Vis Sci 48:5690-8. 2007..Thus far, mutations in 13 genes have been associated with autosomal recessive LCA and juvenile RP. The purpose of this study was to use homozygosity mapping to identify mutations in known LCA and juvenile RP genes... - Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyChristina F Chakarova
Institute of Ophthalmology, University College London, London, UK
Am J Hum Genet 81:1098-103. 2007.... - The phenotype of Leber congenital amaurosis in patients with AIPL1 mutationsSharola Dharmaraj
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Eye Institute, Johns Hopkins Medical Institutions, Baltimore, MD 21287 9237, USA
Arch Ophthalmol 122:1029-37. 2004..To describe the electroretinogram (ERG) in heterozygote carriers... - Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt diseaseSuzanne Yzer
The Rotterdam Eye Hospital, Rotterdam, The Netherlands
Mol Vis 13:1568-72. 2007..To identify the causative gene mutations in three siblings with severe progressive autosomal recessive cone-rod dystrophy (arCRD) and their fifth paternal cousin with Stargardt disease (STGD1) and to specify the phenotypes... - Development of a genotyping microarray for Usher syndromeFrans P M Cremers
Department of Human Genetics, and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
J Med Genet 44:153-60. 2007..Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons... - Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier allelesJana Zernant
Department of Ophthalmology, Eye Institute Research, Columbia University, 630 West 168th Street, New York, NY 10032, USA
Invest Ophthalmol Vis Sci 46:3052-9. 2005..Simultaneous screening for all known LCA-associated variants in large LCA cohorts allows systematic detection and analysis of genetic variation, facilitating prospective diagnosis and ultimately predicting disease progression... - Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosisJosé A J M van den Hurk
Department of Human Genetics, Radboud Univerisity Nijmegen Medical Center, Nijmegen, The Netherlands
Mol Vis 11:263-73. 2005..3 and 19p13.3. The purpose of this study was to characterize the Crumbs homolog 2 (CRB2) gene on 9q33.3, to analyze its expression pattern, and to determine whether mutations in CRB2 are associated with RP and LCA... - Clinical phenotypes in carriers of Leber congenital amaurosis mutationsJennifer A Galvin
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
Ophthalmology 112:349-56. 2005..Observations of phenotypic associations with specific disease-causing sequence variations in carriers have potential practical value for molecular screening strategies of patients with LCA... - Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisAnneke I den Hollander
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Nat Genet 39:889-95. 2007..Members of this interactome represent candidate genes for LCA and other ciliopathies. Our findings emphasize the emerging role of disrupted ciliary processes in the molecular pathogenesis of LCA... - Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neuronsDyke P McEwen
Department of Pharmacology, University of Michigan, Ann Arbor, MI 48105, USA
Proc Natl Acad Sci U S A 104:15917-22. 2007..The assessment of olfactory function can, therefore, serve as a useful diagnostic tool for genetic screening of certain syndromic ciliary diseases... - Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisAnneke I den Hollander
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
Am J Hum Genet 79:556-61. 2006..CEP290 mutations therefore represent one of the most frequent causes of LCA identified so far... - Leber congenital amaurosis: ciliary proteins on the moveRobert K Koenekoop
Ophthalmic Genet 28:111-2. 2007 - A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9pMyrto Papaioannou
Department of Molecular Genetics, Institute of Ophthalmology, UCL, 11 43 Bath Street, London, EC1V 9EL, UK
Hum Genet 118:501-3. 2005..3 at recombination fraction theta=0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM, in the region 9p22-p13... - CRB1 mutation spectrum in inherited retinal dystrophiesAnneke I den Hollander
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
Hum Mutat 24:355-69. 2004..In this article, we provide an overview of the currently known CRB1 sequence variants, predict their effect, and propose a genotype-phenotype correlation model for CRB1 mutations...