| P2093 | author name string | Danciger M | |
| | Farber DB | |
| P2860 | cites work | Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa | Q24303572 |
| | Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells | Q24312049 |
| | Defective myosin VIIA gene responsible for Usher syndrome type 1B | Q24314638 |
| | A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy | Q24324625 |
| | Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness | Q24328892 |
| | A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese | Q24337358 |
| | Isolation of a candidate gene for choroideremia | Q24562765 |
| | Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse | Q24564633 |
| | Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa | Q24564816 |
| | Phosphodiesterase activation by photoexcited rhodopsin is quenched when rhodopsin is phosphorylated and binds the intrinsic 48-kDa protein of rod outer segments | Q24632640 |
| | Cloning and characterization of the human choroideremia gene | Q28115927 |
| | Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness | Q28116973 |
| | Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase | Q28118318 |
| | The gene for Best's macular dystrophy is located at 11q13 in a Swedish family | Q28189943 |
| | Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy | Q28236562 |
| | Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter | Q28238247 |
| | A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene | Q28240043 |
| | Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness | Q28247337 |
| | The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA | Q28248212 |
| | Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa | Q28252073 |
| | Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium | Q28252128 |
| | Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22 | Q28253848 |
| | Cloning of a gene that is rearranged in patients with choroideraemia | Q28255063 |
| | Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene | Q28268699 |
| | Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy | Q28268707 |
| | A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) | Q28282762 |
| | Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa | Q28283971 |
| | Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds) | Q28284510 |
| | A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy | Q28284673 |
| | Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 | Q28290670 |
| | Oguchi disease: suggestion of linkage to markers on chromosome 2q | Q28293710 |
| | Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD) | Q28294377 |
| | Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis | Q28298481 |
| | Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa | Q28299211 |
| | Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB | Q28301792 |
| | A type VII myosin encoded by the mouse deafness gene shaker-1 | Q28512902 |
| | cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein | Q28569766 |
| | Isolation and nucleotide sequence of the gene encoding human rhodopsin | Q28609991 |
| | Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration | Q29028757 |
| | Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase | Q33505505 |
| | X-linked retinitis pigmentosa | Q33649367 |
| | A point mutation of the rhodopsin gene in one form of retinitis pigmentosa | Q34168407 |
| | Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci | Q34342489 |
| | Mutation analysis of the ROM1 gene in retinitis pigmentosa. | Q34374457 |
| | Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3). | Q34380284 |
| | Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes | Q34407470 |
| | A fundus dystrophy with unusual features | Q34728881 |
| | Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation | Q34745200 |
| | Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. | Q35926100 |
| | Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase | Q36209453 |
| | Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene | Q36274060 |
| | Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration | Q36530871 |
| | Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse | Q37596482 |
| | Analysis of phosducin as a candidate gene for retinopathies | Q38360930 |
| | Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases | Q39720809 |
| | The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily | Q41116274 |
| | The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1 | Q46168845 |
| | Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1. | Q48080951 |
| | Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa. | Q50560183 |
| | A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 | Q55670938 |
| | Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3 | Q57061708 |
| | Linkage Study of Best‘s Vitelliform Macular Dystrophy (VMD2) in a Large North American Family | Q57418342 |
| | Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop) | Q57785180 |
| | 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 | Q57785269 |
| | Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease | Q61386382 |
| | Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families | Q61386395 |
| | Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172 | Q61386399 |
| | A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa | Q67482922 |
| | X-linked retinitis pigmentosa. Profile of clinical findings | Q68091227 |
| | Assignment of the S-antigen gene (SAG) to human chromosome 2q24-q37 | Q68774905 |
| | Assignment of the rhodopsin gene to human chromosome three, region 3q21-3q24 by in situ hybridization studies | Q69639250 |
| | Retinitis pigmentosa | Q70250624 |
| | Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy | Q71004413 |
| | Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene | Q71112436 |
| | Genetic fine mapping of the gene for recessive Stargardt disease | Q71501096 |
| | Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene | Q71767757 |
| | Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease | Q72131293 |
| | Missense rhodopsin mutation in a family with recessive RP | Q72874145 |
| | Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness | Q72896189 |
| P433 | issue | 5 | |
| P921 | main subject | photoreceptor protein | Q7187894 |
| P304 | page(s) | 666-673 | |
| P577 | publication date | 1997-10-01 | |
| P1433 | published in | Current Opinion in Neurobiology | Q15763572 |
| P1476 | title | Identification of genes causing photoreceptor degenerations leading to blindness | |
| P478 | volume | 7 | |