| scholarly article | Q13442814 |
| P50 | author | Edwin M. Stone | Q37381855 |
| Arlene Drack | Q56529441 | ||
| P2093 | author name string | Sheffield VC | |
| Kimura AE | |||
| Nichols BE | |||
| Vandenburgh K | |||
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| Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus | Q40508112 | ||
| A simple and efficient non-organic procedure for the isolation of genomic DNA from blood | Q40538442 | ||
| Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis | Q40568914 | ||
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| Senile macular degeneration: a case-control study. | Q50927753 | ||
| Butterfly--Shaped Pigment Dystrophy of the Fovea | Q55843634 | ||
| Patterned dystrophies of the retinal pigment epithelium | Q57462512 | ||
| Pattern Dystrophy of the Retinal Pigment Epithelium | Q58397659 | ||
| Monozygotic Twins With Age-Related Macular Degeneration | Q68320476 | ||
| An electroretinographic and molecular genetic study of X-linked cone degeneration | Q69359529 | ||
| Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes | Q69787034 | ||
| Pigment epithelial pattern dystrophy. Four different manifestations in a family | Q70445999 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | butterfly | Q11946202 |
| P304 | page(s) | 202-207 | |
| P577 | publication date | 1993-03-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene | |
| P478 | volume | 3 |
| Q92709206 | A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants |
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| Q55670938 | A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 |
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| Q45061216 | A novel RDS/peripherin gene mutation associated with diverse macular phenotypes |
| Q43146321 | A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family |
| 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 |
| Q70834881 | A twin study of age-related macular degeneration |
| Q34164177 | A twin study on age-related macular degeneration |
| Q30453882 | Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa |
| Q34667367 | Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations |
| Q73225018 | Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family |
| Q71112436 | Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene |
| Q36071540 | Bottlenecks in development of retinal therapeutic post-transcriptional gene silencing agents |
| Q48069393 | Canine homolog and exclusion of retinal degeneration slow (rds) as the gene for early retinal degeneration (erd) in the dog. |
| Q57785192 | Clinical Features of a Previously Undescribed Codon 216 (proline to serine) Mutation in the Peripherin/Retinal Degeneration Slow Gene in Autosomal Dominant Retinitis Pigmentosa |
| Q36950798 | Clinical characterization and genetic mapping of North Carolina macular dystrophy |
| Q35889762 | Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). |
| Q73212560 | Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31 |
| Q34372883 | Cloning of the cDNA for a novel photoreceptor protein |
| Q35926100 | Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. |
| Q37641539 | Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system |
| Q43457685 | Detection of novel genetic variation in autosomal dominant retinitis pigmentosa |
| Q34369291 | Diagnosis and classification of macular degenerations: an approach based on retinal function testing |
| Q33890711 | Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration |
| Q40020350 | Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy |
| Q33682728 | Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy |
| Q35644323 | Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome. |
| Q37309913 | Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene |
| Q40937286 | Genetic and molecular studies of macular dystrophies: recent developments |
| Q41866150 | Genetic association of apolipoprotein E with age-related macular degeneration |
| Q35749765 | Genetic factors of age-related macular degeneration |
| Q35591172 | Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss |
| Q34369282 | Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease. |
| Q46379166 | Hereditary macular dystrophies |
| Q39695790 | Hereditary retinopathies: insights into a complex genetic aetiology |
| Q42633629 | High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. |
| Q41652312 | Identification of genes causing photoreceptor degenerations leading to blindness |
| Q35762932 | Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa |
| Q24539021 | Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q |
| Q24672618 | Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic |
| Q33642751 | Management of hereditary retinal degenerations: present status and future directions |
| Q42071308 | Molecular evidence for non-penetrance in Best's disease. |
| Q28286831 | Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus |
| Q33572027 | Molecular genetic techniques and applications in ophthalmology |
| Q47609854 | Molecular genetics of human retinal dystrophies |
| Q74511727 | Molecular genetics of macular degeneration |
| Q37324803 | Molecular genetics of macular dystrophies |
| Q24564816 | Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa |
| Q36676410 | Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity |
| Q28244150 | Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa |
| Q48000434 | Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. |
| Q35432649 | Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus |
| Q72640298 | New dimensions in macular dystrophies |
| Q42686991 | OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium |
| Q37309065 | Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa |
| Q50517441 | Ophthalmologic findings in Usher syndrome type 2A. |
| Q34312941 | Pathways to photoreceptor cell death in inherited retinal degenerations |
| Q71506581 | Pattern dystrophy of the retinal pigment epithelium and geographic atrophy of the macula |
| Q60064503 | Peripherin and the vision thing |
| Q35310935 | Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene |
| 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 |
| Q28285794 | Recent advances in understanding the spectrum of canine generalised progressive retinal atrophy |
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| Q57417820 | Regulation of adenylyl cyclase in LTP |
| Q28588396 | Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1 |
| Q40515350 | Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture |
| Q57785180 | Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop) |
| Q33534644 | Retinitis pigmentosa: defined from a molecular point of view |
| 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 |
| Q34211400 | Sorsby's fundus dystrophy in a family with a Ser-181-CVS mutation in the TIMP-3 gene: poor outcome after laser photocoagulation. |
| Q28238247 | Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter |
| Q43796217 | Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina |
| Q90662445 | The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases |
| Q50526833 | The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors. |
| Q42346342 | The evolving role of visual electrodiagnostics |
| Q41587391 | The genes of eye disease: the light beckons. |
| Q37322703 | The genetics of complex ophthalmic disorders |
| Q35213761 | The genetics of inherited macular dystrophies |
| Q34317165 | The molecular biology of Norrie's disease |
| Q33682081 | The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. |
| Q36405906 | The role of inflammation in the pathogenesis of age-related macular degeneration |
| Q50517383 | Ultrastructural and biochemical analysis of sperm flagella from an infertile man with a rod-dominant retinal degeneration. |
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