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lebers congenital amaurosis (108) 108
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leber congenital amaurosis - genetics (28) 28
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Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1040 - 1045
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 975 - 977
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1035 - 1039
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2011, Volume 20, Issue 23, pp. 4569 - 4581
Defects in the photoreceptor-specific gene aryl hydrocarbon receptor interacting protein-like 1 (Aipl1) are associated with Leber congenital amaurosis (LCA), a... 
RETINAL DEGENERATION | ADENOASSOCIATED VIRAL VECTORS | CONE LOSS | PHOTORECEPTOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | CGMP PHOSPHODIESTERASE | RPE65 MUTATIONS | ITALIAN PATIENTS | RETINITIS-PIGMENTOSA | AIPL1 MUTATIONS | Leber Congenital Amaurosis - pathology | Dependovirus - genetics | Genetic Therapy | Dependovirus - radiation effects | Retinal Rod Photoreceptor Cells - ultrastructure | Humans | Retinal Rod Photoreceptor Cells - metabolism | Vision, Ocular - radiation effects | Leber Congenital Amaurosis - complications | Behavior, Animal | Vision, Ocular - physiology | Retina - enzymology | Light | Eye Proteins - genetics | Capsid - metabolism | Carrier Proteins - therapeutic use | Leber Congenital Amaurosis - therapy | Retina - radiation effects | Cyclic Nucleotide Phosphodiesterases, Type 6 - metabolism | Leber Congenital Amaurosis - physiopathology | Eye Proteins - therapeutic use | Retinal Degeneration - physiopathology | Mutation - genetics | Carrier Proteins - genetics | Animals | Adaptor Proteins, Signal Transducing - deficiency | Retinal Degeneration - therapy | Mice | Adaptor Proteins, Signal Transducing - metabolism | Retinal Degeneration - pathology | Retina - pathology | Retinal Rod Photoreceptor Cells - pathology | Capsid Proteins - genetics | Retinal Degeneration - complications | Index Medicus
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2014, Volume 111, Issue 9, pp. 3602 - 3607
Cone phototransduction and survival of cones in the human macula is essential for color vision and for visual acuity. Progressive cone degeneration in... 
Opsins | Retinal degeneration | Fluorescent antibody techniques | Retina | Photoreceptors | Retinal cones | Thyroid hormones | Cone opsins | Viability | Apoptosis | APOPTOSIS | ACTIVATION | GENE DELIVERY | MULTIDISCIPLINARY SCIENCES | OPSIN EXPRESSION | DOWN-REGULATION | RECEPTOR | METAMORPHOSIS | RETINITIS-PIGMENTOSA | DEVELOPMENTAL EXPRESSION | CELL-DEATH | Methimazole | cis-trans-Isomerases - deficiency | Retinal Cone Photoreceptor Cells - physiology | Cone Opsins - metabolism | Retinal Degeneration - etiology | Retinal Degeneration - physiopathology | Color Vision Defects - complications | Retinal Degeneration - prevention & control | Leber Congenital Amaurosis - complications | Leber Congenital Amaurosis - drug therapy | Mice, Knockout | Guanylate Cyclase - deficiency | Animals | Cyclic Nucleotide-Gated Cation Channels - deficiency | Thyroid Hormones - metabolism | Receptors, Cell Surface - deficiency | Retinal Cone Photoreceptor Cells - drug effects | Signal Transduction - physiology | Color Vision Defects - drug therapy | Mice | Retinal Cone Photoreceptor Cells - metabolism | Antithyroid Agents - pharmacology | Triiodothyronine - pharmacology | Physiological aspects | Cellular signal transduction | Research | Health aspects | Signal transduction | Cellular biology | Rodents | Blindness | Growth hormones | Thyroid gland | Index Medicus | Biological Sciences
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2009, Volume 4, Issue 8, pp. e6616 - e6616
Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod... 
SEVERE RETINAL DYSTROPHY | VISUAL CYCLE | NIGHT BLINDNESS | ALPHA-SUBUNIT | BIOLOGY | RECESSIVE RETINITIS-PIGMENTOSA | BINDING-PROTEIN | DEFICIENT MICE | RPE65(-/-) MOUSE MODEL | GATED CHANNEL | CELL-DEATH | Carrier Proteins - physiology | Leber Congenital Amaurosis - pathology | Transducin - genetics | GTP-Binding Protein alpha Subunits - genetics | bcl-2-Associated X Protein - physiology | Leber Congenital Amaurosis - complications | Mice, Knockout | Carrier Proteins - genetics | Animals | Transducin - physiology | Vision, Ocular | GTP-Binding Protein alpha Subunits - physiology | Retinal Cone Photoreceptor Cells - pathology | Retinal Diseases - pathology | Eye Proteins - physiology | Mice | Apoptosis - physiology | Eye Proteins - genetics | cis-trans-Isomerases | Retinal Rod Photoreceptor Cells - pathology | bcl-2-Associated X Protein - genetics | Genetic disorders | Gene mutations | Analysis | Physiological aspects | Development and progression | Genetic aspects | Apoptosis | Bax protein | Bcl-2 protein | Pathogenesis | Transducin | Retina | Activation | Rods | Retinal pigment epithelium | Signal transduction | Pathways | Rodents | Degeneration | Age | Photoreception | Gene expression | Epithelium | Signaling | Phototransduction | Cones | Cell death | Blindness | Retinal degeneration | Photoreceptors | Mutation | Index Medicus
Journal Article
Molecular Vision, ISSN 1090-0535, 2011, Volume 17, Issue 210-11, pp. 1940 - 1945
Journal Article
BMJ Case Reports, ISSN 1757-790X, 2018, Volume 2018, p. bcr-2018-227073
Journal Article