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Proceedings of the National Academy of Sciences, ISSN 0027-8424, 02/2013, Volume 110, Issue 6, pp. E517 - E525
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2008, Volume 105, Issue 39, pp. 15112 - 15117
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2012, Volume 109, Issue 6, pp. 2132 - 2137
Hereditary retinal blindness is caused by mutations in genes expressed in photoreceptors or retinal pigment epithelium. Gene therapy in mouse and dog models of... 
Eyes | Disease vectors | Disease models | Canines | Retinitis pigmentosa | Photoreceptors | Retina | Gene therapy | Retinal diseases | Genetic mutation | Retinal degeneration | MUTATION ANALYSIS | retinal degeneration | LEBER CONGENITAL AMAUROSIS | CHILDHOOD BLINDNESS | CANINE MODEL | retina | CONE VISION | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | RPGR EXON ORF15 | GTPASE REGULATOR RPGR | DISEASE EXPRESSION | Genetic Therapy | Retinal Bipolar Cells - pathology | Humans | Retinitis Pigmentosa - genetics | Genotype | Eye Proteins - therapeutic use | Mutation - genetics | Open Reading Frames - genetics | Blindness - genetics | Protein Transport | Phenotype | Animals | Retinitis Pigmentosa - therapy | Dogs | Opsins - metabolism | Genetic Diseases, X-Linked - genetics | Mice | Blindness - therapy | Eye Proteins - genetics | Photoreceptor Cells, Vertebrate - pathology | Genetic Diseases, X-Linked - therapy | Care and treatment | Blindness | Physiological aspects | Genetic aspects | Research | Health aspects | Proteins | Mutation | Gene expression | Animal models | Translation | Preservation | X chromosome | Clinical trials | Rod outer segment membranes | Nuclei | Promoters | interphotoreceptor retinoid-binding protein | Cones | Bipolar cells | retinal pigment epithelium | Guanosinetriphosphatase | Index Medicus | Biological Sciences
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 08/2011, Volume 108, Issue 34, pp. E569 - E576
Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells. We used exome sequencing to... 
Retinal degeneration | Photoreceptor differentiation | Disease modeling | Next generation sequencing | retinal degeneration | next generation sequencing | PROTEIN-KINASE | MULTIDISCIPLINARY SCIENCES | disease modeling | ABCR | DISCOVERY | DEGENERATION | ALIGNMENT | DATABASE | MUTATIONS | photoreceptor differentiation | STARGARDT-DISEASE | Humans | Molecular Sequence Data | Jews - genetics | Point Mutation - genetics | Retinal Cone Photoreceptor Cells - enzymology | Retinitis Pigmentosa - complications | Isoenzymes - metabolism | Retinal Cone Photoreceptor Cells - pathology | Retinal Rod Photoreceptor Cells - enzymology | Cell Differentiation | Alu Elements - genetics | Genealogy and Heraldry | Induced Pluripotent Stem Cells - metabolism | Biomarkers - metabolism | Amino Acid Sequence | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Organ Specificity | Sequence Analysis, DNA | Mutagenesis, Insertional - genetics | Cilia - genetics | Retinitis Pigmentosa - enzymology | Protein-Serine-Threonine Kinases - chemistry | Retinal Degeneration - enzymology | Retinal Rod Photoreceptor Cells - pathology | Retinal Degeneration - complications | Eye diseases | Mutation | Kinases | Stem cells | Apoptosis | Immunohistochemistry | Alternative splicing | Transcription | Exons | Retinitis pigmentosa | Insertion | Retina | Pathogenicity | Axons | Cones | Donors | Photoreceptors | Skin | Cell body | Index Medicus | Biological Sciences | PNAS Plus
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2016, Volume 11, Issue 1, pp. e0145951 - e0145951
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 555 - 566
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 6, pp. 739 - 745
Journal Article