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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
The New England Journal of Medicine, ISSN 0028-4793, 08/2009, Volume 361, Issue 7, pp. 725 - 727
To the Editor: Leber's congenital amaurosis, a common cause of blindness in infants and children, 1 recently became the first human genetic retinal disease to... 
MEDICINE, GENERAL & INTERNAL | Genetic Therapy | Blindness - physiopathology | Humans | Retinal Degeneration - therapy | Female | Blindness - congenital | Blindness - therapy | Retinal Degeneration - congenital | Retinal Degeneration - physiopathology | Fixation, Ocular | Contrast Sensitivity | Gene therapy | Retina | Index Medicus | Abridged Index Medicus
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 09/2018, Volume 193, pp. 114 - 129
To determine the change in vision and retinal structure in patients with the common c.2299delG mutation in the gene in anticipation of clinical trials of... 
GENE | OPTICAL COHERENCE TOMOGRAPHY | USHER-SYNDROME | RETINAL FUNCTION | FUNDUS AUTOFLUORESCENCE | DISEASE COURSE | OPHTHALMOLOGY | NATURAL COURSE | RETINITIS-PIGMENTOSA | VISUAL-FIELD LOSS | PROGRESSION | Clinical trials | Fluorescence | Medical colleges | Cataracts | Medical imaging | Photoreceptors | Mutation | Ophthalmology | Patients | Age
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 09/2018, Volume 115, Issue 36, pp. E8547 - E8556
Inherited retinal degenerations are caused by mutations in >250 genes that affect photoreceptor cells or the retinal pigment epithelium and result in vision... 
Autosomal dominant retinitis pigmentosa | Retinal degeneration | RHO | RNA interference | Gene therapy | retinal degeneration | RIBOZYME RESCUE | INHERITED RETINAL DEGENERATION | MULTIDISCIPLINARY SCIENCES | gene therapy | ANTISENSE OLIGONUCLEOTIDE | MAMMALIAN-CELLS | DOMINANT RETINITIS-PIGMENTOSA | autosomal dominant retinitis pigmentosa | IN-VIVO | MOUSE MODEL | PHOTORECEPTOR DEGENERATION | LIGHT EXPOSURE | TRANSGENIC MICE | Humans | RNA, Catalytic - biosynthesis | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Retinal Rod Photoreceptor Cells - metabolism | Dependovirus | Gene Knockdown Techniques - methods | Animals | Rhodopsin - biosynthesis | Rhodopsin - genetics | Dogs | HEK293 Cells | RNA, Catalytic - genetics | Genetic Vectors | Gene Knock-In Techniques - methods | Retinitis Pigmentosa - pathology | Retinal Rod Photoreceptor Cells - pathology | Genetic Therapy - methods | Rhodopsin | Care and treatment | Retinitis pigmentosa | Genetic aspects | Health aspects | Methods | Rho protein | Retinal images | Genes | Clinical trials | Retina | Retinal pigment epithelium | Macular degeneration | Proteins | Histopathology | Degeneration | Electroretinography | Medical research | Genetic disorders | Preservation | RNA-mediated interference | Epithelium | Ribonucleic acids | Blindness | Photoreceptors | Retinitis | Mutation | Commercialization | Structure-function relationships | Index Medicus | Biological Sciences | PNAS Plus
Journal Article
Journal Article
Journal Article