| scholarly article | Q13442814 |
| P356 | DOI | 10.1001/ARCHOPHT.1993.01090110097033 |
| P698 | PubMed publication ID | 8240110 |
| P50 | author | Edwin M. Stone | Q37381855 |
| P2093 | author name string | V C Sheffield | |
| R G Weleber | |||
| W H Murphey | |||
| R E Carr | |||
| P433 | issue | 11 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | retinitis pigmentosa | Q847057 |
| P304 | page(s) | 1531-1542 | |
| P577 | publication date | 1993-11-01 | |
| P1433 | published in | JAMA Ophthalmology | Q4787301 |
| P1476 | title | Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene | |
| P478 | volume | 111 |
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| Q30428986 | A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS. |
| Q28594074 | A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice |
| Q37012902 | A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas |
| Q43006989 | A novel mutation in the RDS gene in an Italian family with pattern dystrophy |
| Q44301746 | A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. |
| Q28307487 | A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration |
| Q28284673 | A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy |
| Q24539435 | A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene |
| Q70834881 | A twin study of age-related macular degeneration |
| Q34164177 | A twin study on age-related macular degeneration |
| Q38528446 | Abnormal cone synapses in human cone-rod dystrophy |
| Q30048094 | Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene |
| Q71293627 | Adult-onset foveomacular vitelliform dystrophy and indocyanine green videoangiography |
| Q44577749 | Alterations of L- and M-cone driven ERGs in cone and cone-rod dystrophies |
| Q49107499 | Asymmetric fundus flavimaculatus/Stargardt's disease, associated with unilateral myopia |
| Q34667367 | Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations |
| Q36531483 | Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers |
| Q34385985 | Autosomal dominant Stargardt-like macular dystrophy |
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| Q48069393 | Canine homolog and exclusion of retinal degeneration slow (rds) as the gene for early retinal degeneration (erd) in the dog. |
| Q33956940 | Central areolar choroidal dystrophy associated with dominantly inherited drusen |
| Q28286537 | Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg) |
| Q46306068 | Contrast sensitivity evaluation with filter contact lenses in patients with retinitis pigmentosa: a pilot study. |
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| Q37309913 | Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene |
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| Q41866150 | Genetic association of apolipoprotein E with age-related macular degeneration |
| Q41737723 | Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies |
| Q57215679 | Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets |
| Q38511788 | Genetic modifiers and oligogenic inheritance |
| Q46379155 | Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations |
| Q34369282 | Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease. |
| Q46379166 | Hereditary macular dystrophies |
| Q42633629 | High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. |
| Q40674593 | Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. |
| Q41652312 | Identification of genes causing photoreceptor degenerations leading to blindness |
| Q40161039 | Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa |
| Q71969631 | Indocyanine Green Angiography in Stargardt's Flavimaculatus |
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| Q33649255 | Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS. |
| Q53464263 | Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene. |
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| Q24539021 | Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q |
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| Q40879865 | Molecular genetics is revolutionizing our understanding of ophthalmic disease |
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| Q53961767 | Pattern dystrophies of the retinal pigment epithelium. |
| Q47959995 | Pattern dystrophy in a female carrier of RP2 mutation |
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| Q46831461 | Pseudo-vitelliform macular detachment and cuticular drusen: exclusion of 6 candidate genes. |
| Q33679218 | RDS/peripherin gene mutations are frequent causes of central retinal dystrophies |
| Q33596248 | Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous |
| Q35689562 | Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. |
| Q57417820 | Regulation of adenylyl cyclase in LTP |
| Q40515350 | Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture |
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| Q36650544 | Role of peripherin/rds in vertebrate photoreceptor architecture and inherited retinal degenerations |
| Q57785072 | Serine-27-Phenylalanine Mutation within the Peripherin/RDS Gene in a Family with Cone Dystrophy |
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| Q43796217 | Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina |
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| Q90662445 | The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases |
| Q39732823 | The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function |
| Q40596042 | The genetic contribution to the phenotype |
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| Q35676416 | The influence of genetics on response to treatment with ranibizumab (Lucentis) for age-related macular degeneration: the Lucentis Genotype Study (an American Ophthalmological Society thesis). |
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| Q40969774 | The variable expressivity of a family with central areolar pigment epithelial dystrophy |
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