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PLOS ONE, ISSN 1932-6203, 09/2014, Volume 9, Issue 9, pp. e108721 - e108721
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2010, Volume 51, Issue 8, pp. 4266 - 4272
Journal Article
Stem Cell Research and Therapy, ISSN 1757-6512, 10/2018, Volume 9, Issue 1, pp. 279 - 279
BackgroundGeneration of induced photoreceptors holds promise for in vitro modeling of intractable retinal diseases. Retinitis pigmentosa is an inherited... 
disease modeling | phenotypic variation | photoreceptor | truncating mutation | retinitis pigmentosa | genotype-phenotype relationship | nonsense-mediated mRNA decay (NMD) | Redirect differentiation | dermal fibroblast | EYS | MEDICINE, RESEARCH & EXPERIMENTAL | ORTHOLOG | NEUROD | EYES SHUT HOMOLOG | IDENTIFICATION | CELL BIOLOGY | PLURIPOTENT STEM-CELLS | PATHWAY | NONSENSE-MEDIATED DECAY | MESSENGER-RNA DECAY | DIFFERENTIATION | HOMEOBOX GENE | Homeodomain Proteins - metabolism | Humans | Middle Aged | Otx Transcription Factors - metabolism | Male | Cyclic Nucleotide Phosphodiesterases, Type 6 - genetics | Rhodopsin - metabolism | Case-Control Studies | Rod Opsins - genetics | Basic Helix-Loop-Helix Transcription Factors - metabolism | Otx Transcription Factors - genetics | Rod Opsins - metabolism | Trans-Activators - genetics | Female | Cell Differentiation | Eye Proteins - genetics | Arrestin - metabolism | Recoverin - genetics | Fibroblasts - metabolism | Arrestin - genetics | Cyclic Nucleotide Phosphodiesterases, Type 6 - metabolism | Basic Helix-Loop-Helix Transcription Factors - genetics | RNA, Messenger - genetics | Gene Expression Regulation | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Transcription Factors - genetics | Fibroblasts - pathology | RNA Stability | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Homozygote | Rhodopsin - genetics | Eye Proteins - metabolism | Heterozygote | Trans-Activators - metabolism | Aged | Mutation | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Retinitis Pigmentosa - pathology | Recoverin - metabolism | Photoreceptors | Genetic aspects | Research | Genetic transcription | Gene mutations | Retinitis pigmentosa | Rhodopsin | Messenger RNA | Analysis | Genes | Genetic research | NeuroD protein | Phenotypes | Disease | mRNA turnover | Phenotypic variations | Retina | Recoverin | Nonsense-mediated mRNA decay | Gene expression | Defects | Polymerase chain reaction | Fibroblasts | Retinal degeneration | Otx2 protein | Retinitis | Skin | Dystrophy | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2695 - 2703
Whole exome sequencing (WES) has become routine in clinical practice, especially in studies of recessive hereditary diseases in inbred consanguineous families,... 
CNV | WES | EYS | haplotyping | ORTHOLOG | ISRAELI | HOMOZYGOSITY | GENE | DISEASE | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | LINKAGE | SMART | Nonsense mutation | Retinitis pigmentosa | Exons | Nyctalopia | Gene deletion | Hereditary diseases | Electroretinograms | Retinography | DNA microarrays | Clonal deletion | Inbreeding | Retinitis | Mutation
Journal Article
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 04/2011, Volume 32, Issue 4, pp. E2091 - E2103
Autosomal-recessive retinitis pigmentosa (arRP) is a genetically heterogeneous group of disorders to which a novel gene, C2orf71, was recently associated. The... 
USH2A GENE | EYS GENE | SERVER | GENETICS & HEREDITY | RECESSIVE RETINITIS-PIGMENTOSA | Rod-cone dystrophies | Autosomal-recessive retinitis pigmentosa | C2orf71
Journal Article
Seminars in Ophthalmology, ISSN 0882-0538, 05/2018, Volume 33, Issue 4, pp. 560 - 565
Purpose: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related... 
hearing impairment | genetic disorder | non-syndromic retinitis pigmentosa | rod-cone dysfunction | EYS gene | GENOTYPE-PHENOTYPE CORRELATION | POPULATION | FREQUENT | 2299DELG | SYNDROME TYPE-II | LARGE COHORT | LONG ISOFORM | GENE | SYNDROME TYPE-2 | OPHTHALMOLOGY | SPECTRUM | Index Medicus
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 05/2019, Volume 60, Issue 6, pp. 2049 - 2063
PURPOSE. To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHODS. Multiethnic cohort... 
ORTHOLOG | RECESSIVE RETINITIS-PIGMENTOSA | macular dystrophy | IDENTIFICATION | inherited retinal disease | GENE | retinitis pigmentosa | OPHTHALMOLOGY | cone-rod dystrophy | MUTATIONS | JAPANESE PATIENTS | EYS | PROGRESSION
Journal Article