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Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 12/2019, Volume 126, Issue 12, pp. 1694 - 1694
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Diagnosis, Differential | Retinal Degeneration - diagnosis | Humans | Vitelliform Macular Dystrophy - diagnosis | Eye Diseases, Hereditary - diagnosis | Male | Mutation, Missense | Bestrophins - genetics | Retinitis Pigmentosa - diagnosis | Arterioles - pathology | Vitelliform Macular Dystrophy - genetics | Retinal Artery - pathology | Female | Child | Choroid Diseases - diagnosis | Visual Acuity - physiology | Index Medicus
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The genetic basis of pericentral retinitis pigmentosa—a form of mild retinitis pigmentosa
Genes, ISSN 2073-4425, 10/2017, Volume 8, Issue 10, p. 256
HGSNAT | Rhodopsin | Pericentral retinitis pigmentosa | Pericentral | Pericentral retinal degeneration | Retinitis pigmentosa | Genotype/phenotype correlations | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | USH2A protein | Copy number | Retina | Retinitis | Mutation | Deoxyribonucleic acid--DNA | DNA sequencing | Phosphodiesterase | rhodopsin | genotype/phenotype correlations | retinitis pigmentosa | pericentral | pericentral retinitis pigmentosa | pericentral retinal degeneration
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The Journal of clinical investigation, ISSN 0021-9738, 09/2015, Volume 125, Issue 9, pp. 3704 - 3713
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Neurodegenerative Diseases - pathology | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Mice, Transgenic | Neurodegenerative Diseases - genetics | Neurodegenerative Diseases - therapy | Neurodegenerative Diseases - metabolism | Animals | Retinitis Pigmentosa - therapy | Mice | Retinitis Pigmentosa - pathology | Transduction, Genetic - methods | Disease Models, Animal | Genetic Therapy - methods | Care and treatment | Genetic aspects | Research | Gene therapy | Retinitis pigmentosa | Health aspects | Neurosciences | Disease | Laboratories | Retina | Grants | Gene expression | Rodents | Blindness | Stem cells | Photoreceptors | Mutation | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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HIF‐1α stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa
The FASEB journal, ISSN 0892-6638, 05/2018, Volume 32, Issue 5, pp. 2438 - 2451
DMOG | oxidative damage | hyperoxia | reactive gliosis | inflammation | Reactive gliosis | Inflammation | Oxidative damage | Hyperoxia | Biochemistry & Molecular Biology | Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Cell Survival - drug effects | Retina - metabolism | Endothelin-1 - genetics | Endothelin-1 - metabolism | Hypoxia-Inducible Factor 1, alpha Subunit - genetics | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Vascular Endothelial Growth Factor A - metabolism | Amino Acids, Dicarboxylic - pharmacology | Down-Regulation - drug effects | Vascular Endothelial Growth Factor A - genetics | Animals | Nitric Oxide Synthase Type II - genetics | Hypoxia-Inducible Factor 1, alpha Subunit - metabolism | Mice, Mutant Strains | Protein Stability - drug effects | Mice | Retina - pathology | Retinitis Pigmentosa - pathology | Disease Models, Animal | Nitric Oxide Synthase Type II - metabolism | Index Medicus
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Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2019, Volume 126, Issue 8, pp. 1181 - 1188
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Humans | Middle Aged | Retinitis Pigmentosa - genetics | Male | DNA Mutational Analysis - methods | Genes, Recessive | DNA Copy Number Variations | Phenotype | Comparative Genomic Hybridization | Pedigree | Adult | Female | High-Throughput Nucleotide Sequencing | Mutation | Cohort Studies | Retinitis pigmentosa | Analysis | Index Medicus
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JAMA ophthalmology, ISSN 2168-6165, 05/2013, Volume 131, Issue 8, pp. 1 - 8
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Visual Fields - physiology | beta Carotene - therapeutic use | Humans | Middle Aged | Male | Young Adult | Light | Adult | Female | Retinitis Pigmentosa - physiopathology | Visual Acuity - physiology | Electroretinography | beta Carotene - blood | Powders | Double-Blind Method | Administration, Oral | Retinitis Pigmentosa - drug therapy | Dark Adaptation - physiology | Treatment Outcome | beta Carotene - administration & dosage | Vitamins - therapeutic use | Cross-Over Studies | Retina - physiology | Chlorophyta | Aged | Vitamins - administration & dosage | Care and treatment | Usage | Retinitis pigmentosa | Analysis | Clinical trials | Placebos | Beta carotene | Index Medicus | Abridged Index Medicus
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Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 05/2018, Volume 125, Issue 5, pp. 725 - 734
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Visual Fields - physiology | Humans | Middle Aged | Male | Jews - genetics | Young Adult | Alkyl and Aryl Transferases - genetics | DNA Mutational Analysis | Adult | Female | Retinitis Pigmentosa - physiopathology | Visual Acuity - physiology | Electroretinography | Genetic Association Studies | Tomography, Optical Coherence | Retina - physiopathology | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - diagnosis | Whole Exome Sequencing | Israel - epidemiology | Pedigree | Adolescent | Age of Onset | Aged | Mutation | Genetic research | Retinitis pigmentosa
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Ophthalmic genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 124 - 128
retinitis pigmentosa | retinal dystrophy | autofluorescence | ARL3 | Genetics & Heredity | Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Electroretinography | Genetic Association Studies | Tomography, Optical Coherence | Humans | Middle Aged | Retina - physiopathology | Retinitis Pigmentosa - genetics | Mutation, Missense | Whole Exome Sequencing | Phenotype | Genes, Dominant | Pedigree | Adolescent | Retrospective Studies | ADP-Ribosylation Factors - genetics | Retinitis Pigmentosa - physiopathology | Index Medicus
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Ophthalmic genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 124 - 128
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Asia-Pacific journal of ophthalmology (Philadelphia, Pa.), ISSN 2162-0989, 07/2016, Volume 5, Issue 4, pp. 265 - 271
Genetic Therapy | Retinal Degeneration - genetics | Humans | Retinitis Pigmentosa - genetics | Clinical Trials as Topic | Gene Expression Profiling | Stem Cell Transplantation | Animals | Retinitis Pigmentosa - therapy | Cone-Rod Dystrophies | Disease Management | High-Throughput Nucleotide Sequencing | Mutation | Disease Models, Animal | Index Medicus
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Neurology, ISSN 0028-3878, 09/2015, Volume 85, Issue 12, pp. 1087 - 1087
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Lafora Disease - diagnosis | Young Adult | Retinitis Pigmentosa - complications | Humans | Myoclonic Epilepsies, Progressive - complications | Male | Lafora Disease - complications | Myoclonic Epilepsies, Progressive - diagnosis | Retinitis Pigmentosa - diagnosis | Index Medicus | Abridged Index Medicus
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Clinical genetics, ISSN 0009-9163, 08/2016, Volume 90, Issue 2, pp. 118 - 126
incomplete penetrance | phenotype | repeat elements | MSR1 | retinal degeneration | epistasis | retinitis pigmentosa | PRPF31 | non‐penetrance | Phenotype | Non-penetrance | Repeat elements | Retinitis pigmentosa | Incomplete penetrance | Retinal degeneration | Epistasis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Gene Expression Profiling | Retinal Rod Photoreceptor Cells - metabolism | Retinal Cone Photoreceptor Cells - pathology | Cell Death | Scavenger Receptors, Class A - genetics | Eye Proteins - genetics | Promoter Regions, Genetic | Signal Transduction | Gene Frequency | Gene Expression Regulation | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Penetrance | Transcription Factors - genetics | Haploinsufficiency | Transcription Factors - metabolism | Chromosomes, Human, Pair 19 | Eye Proteins - metabolism | Pedigree | Alleles | Mutation | Retinal Cone Photoreceptor Cells - metabolism | Retinitis Pigmentosa - pathology | Retinal Rod Photoreceptor Cells - pathology | Scavenger Receptors, Class A - metabolism | Eye diseases | Genetic disorders | Index Medicus
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