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Ophthalmic Genetics Volume 23, 2002 - Issue 1
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Research Article

Visual improvement in Leber congenital amaurosis and the CRX genotype

Robert K. Koenekoop The Children‘s Vision Center,; The McGill Ocular Genetics Laboratory, and
,
Magali Loyer The Children‘s Vision Center,; The McGill Ocular Genetics Laboratory, and
,
Olga Dembinska The Children‘s Vision Center,; The Visual Physiology Laboratory, Montreal Children–s Hospital and Research Institute, McGill University, Montreal, PQ, Canada
&
Raquel Beneish The Children‘s Vision Center,
Pages 49-59 | Published online: 08 Jul 2009

Citations (21)

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Read on this site (2)

Xuan Zou, Fengxia Yao, Xiaofang Liang, Fei Xu, Hui Li, Ruifang Sui & Fangtian Dong. (2015) De novo Mutations in the Cone-rod Homeobox Gene Associated with Leber Congenital Amaurosis in Chinese Patients. Ophthalmic Genetics 36:1, pages 21-26.
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Robert K Koenekoop, Irma Lopez, Rando Allikmets, Frans PM Cremers & Anneke I den Hollander. (2008) Genetics, phenotypes, mechanisms and treatments for Leber congenital amaurosis: a paradigm shift. Expert Review of Ophthalmology 3:4, pages 397-415.
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Articles from other publishers (19)

Yiqiao Zheng & Shiming Chen. (2024) Transcriptional precision in photoreceptor development and diseases – Lessons from 25 years of CRX research. Frontiers in Cellular Neuroscience 18.
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Chu-Hsuan Huang, Chung-May Yang, Chang-Hao Yang, Yu-Chih Hou & Ta-Ching Chen. (2021) Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations. Genes 12:8, pages 1261.
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Zhen Yi, Xueshan Xiao, Shiqiang Li, Wenmin Sun & Qingjiong Zhang. (2019) Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis. Experimental Eye Research 189, pages 107846.
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Sharola Dharmaraj, Anshuman Verma, P. Sundaresan & Chitra Kannabiran. 2019. Advances in Vision Research, Volume II. Advances in Vision Research, Volume II 191 231 .
Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran JayasunderaSarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran Jayasundera. 2018. Retinal Dystrophy Gene Atlas. Retinal Dystrophy Gene Atlas 79 81 .
Kazuki Kuniyoshi & Yoshikazu Shimomura. 2017. Advances in Vision Research, Volume I. Advances in Vision Research, Volume I 137 167 .
Michael C. BrodskyMichael C. Brodsky. 2016. Pediatric Neuro-Ophthalmology. Pediatric Neuro-Ophthalmology 1 74 .
Nicholas M. Tran & Shiming Chen. (2014) Mechanisms of blindness: Animal models provide insight into distinct CRX ‐associated retinopathies . Developmental Dynamics 243:10, pages 1153-1166.
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Nicholas M. Tran, Alan Zhang, Xiaodong Zhang, Julie B. Huecker, Anne K. Hennig & Shiming Chen. (2014) Mechanistically Distinct Mouse Models for CRX-Associated Retinopathy. PLoS Genetics 10:2, pages e1004111.
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Bart P. Leroy. 2014. Inherited Chorioretinal Dystrophies. Inherited Chorioretinal Dystrophies 121 133 .
Li Huang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo & Qingjiong Zhang. (2012) CRX variants in cone–rod dystrophy and mutation overview. Biochemical and Biophysical Research Communications 426:4, pages 498-503.
Crossref
Michael C. BrodskyMichael C. Brodsky. 2010. Pediatric Neuro-Ophthalmology. Pediatric Neuro-Ophthalmology 1 58 .
Anneke I. den Hollander, Ronald Roepman, Robert K. Koenekoop & Frans P.M. Cremers. (2008) Leber congenital amaurosis: Genes, proteins and disease mechanisms. Progress in Retinal and Eye Research 27:4, pages 391-419.
Crossref
Robert K Koenekoop, Irma Lopez, Anneke I Den Hollander, Rando Allikmets & Frans PM Cremers. (2007) Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. Clinical & Experimental Ophthalmology 35:5, pages 473-485.
Crossref
K. Paunescu, M.N. Preising, B. Janke, B. Wissinger & B. Lorenz. (2007) Genotype–Phenotype Correlation in a German Family with a Novel Complex CRX Mutation Extending the Open Reading Frame. Ophthalmology 114:7, pages 1348-1357.e1.
Crossref
Robert K. Koenekoop. 2007. Retinal Degenerations. Retinal Degenerations 61 90 .
Robert Henderson, Birgit Lorenz & Anthony T. Moore. 2006. Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics. Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics 157 177 .
JENNIFER A. GALVIN, GERALD A. FISHMAN, EDWIN M. STONE & ROBERT K. KOENEKOOP. (2005) EVALUATION OF GENOTYPE–PHENOTYPE ASSOCIATIONS IN LEBER CONGENITAL AMAUROSIS. Retina 25:7, pages 919-929.
Crossref
Robert K Koenekoop. (2004) An overview of leber congenital amaurosis: a model to understand human retinal development. Survey of Ophthalmology 49:4, pages 379-398.
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