| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Edwin M Stone | |
| P2860 | cites work | Initial sequencing and analysis of the human genome | Q21045365 |
| A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy | Q22009991 | ||
| Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) | Q22010603 | ||
| Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis | Q22010998 | ||
| Mitochondrial Genome Evolution and the Origin of Eukaryotes | Q22065393 | ||
| Predicting deleterious amino acid substitutions | Q22065761 | ||
| The Sequence of the Human Genome | Q22065842 | ||
| A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa | Q24305284 | ||
| Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa | Q24560214 | ||
| Uniparental inheritance of mitochondrial and chloroplast genes: mechanisms and evolution | Q24561429 | ||
| Amino acid substitution matrices from protein blocks | Q24563220 | ||
| Rhodopsin mutations in autosomal dominant retinitis pigmentosa | Q24564252 | ||
| Maternal inheritance of human mitochondrial DNA | Q24608760 | ||
| A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa | Q24669855 | ||
| Crystal structure of rhodopsin: A G protein-coupled receptor | Q27625972 | ||
| Advances in Determination of a High-Resolution Three-Dimensional Structure of Rhodopsin, a Model of G-Protein-Coupled Receptors (GPCRs) | Q27632765 | ||
| Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa | Q28115055 | ||
| Mutation analysis of 3 genes in patients with Leber congenital amaurosis | Q28141825 | ||
| Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree | Q28201915 | ||
| Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa | Q28244150 | ||
| A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP | Q28244207 | ||
| Mutations in RPE65 cause Leber's congenital amaurosis | Q28250918 | ||
| Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa | Q28252073 | ||
| De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis | Q28267242 | ||
| Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy | Q28268707 | ||
| Normalization and subtraction: two approaches to facilitate gene discovery | Q28294574 | ||
| Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis | Q28298481 | ||
| Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies | Q28345457 | ||
| Prediction of deleterious human alleles | Q29614367 | ||
| Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin | Q30445562 | ||
| Structure and function in rhodopsin: Mass spectrometric identification of the abnormal intradiscal disulfide bond in misfolded retinitis pigmentosa mutants | Q30988298 | ||
| The mitochondrial genome: structure, transcription, translation and replication | Q33540909 | ||
| Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. | Q33888425 | ||
| Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. | Q33916106 | ||
| Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. | Q34088707 | ||
| The inheritance of genes in mitochondria and chloroplasts: laws, mechanisms, and models | Q34100918 | ||
| Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine | Q34102725 | ||
| Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. | Q34128761 | ||
| The eye photoreceptor protein rhodopsin. Structural implications for retinal disease | Q34151390 | ||
| Structure and function in rhodopsin: a tetracycline-inducible system in stable mammalian cell lines for high-level expression of opsin mutants | Q34159483 | ||
| Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine | Q34164539 | ||
| Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa | Q44393491 | ||
| Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa | Q44868831 | ||
| Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin | Q44984944 | ||
| Analysis of myocilin mutations in 1703 glaucoma patients from five different populations | Q46636264 | ||
| Cataracts and macular degeneration in older Americans | Q46729531 | ||
| Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa. | Q47804642 | ||
| Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene | Q48068019 | ||
| Fate of microinjected sperm components in the mouse oocyte and embryo. | Q48942566 | ||
| Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa. | Q50560183 | ||
| Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) | Q53956831 | ||
| Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5. | Q54598548 | ||
| A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. | Q54793818 | ||
| Preimplantation genetic diagnosis | Q56337915 | ||
| Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study | Q57222639 | ||
| Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation | Q57223613 | ||
| A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands | Q57785084 | ||
| Regional Distribution of Retinal Degeneration in Patients with the Proline to Histidine Mutation in Codon 23 of the Rhodopsion Gene | Q57785327 | ||
| Autosomal Dominant Retinitis Pigmentosa Caused by the Threonine-17-Methionine Rhodopsin Mutation: Retinal Histopathology and Immunocytochemistry | Q58378357 | ||
| Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa | Q58493979 | ||
| Clinical and genetic aspects of two Spanish families with autosomal dominant retinitis pigmentosa (ADRP) | Q61825930 | ||
| Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa | Q61825949 | ||
| Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa | Q63315265 | ||
| A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa | Q67482922 | ||
| A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens | Q70691294 | ||
| Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa | Q70802316 | ||
| Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa | Q71007245 | ||
| [Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa] | Q71153826 | ||
| The Framingham Eye Study monograph: An ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973-1975 | Q71417583 | ||
| G106R rhodopsin mutation is also present in Spanish ADRP patients | Q71753702 | ||
| Abnormal activation and inactivation mechanisms of rod transduction in patients with autosomal dominant retinitis pigmentosa and the pro-23-his mutation | Q71846960 | ||
| Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347 | Q71953387 | ||
| Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient | Q72069687 | ||
| Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa | Q72174607 | ||
| Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa | Q72176911 | ||
| Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa | Q72195937 | ||
| Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation | Q72246697 | ||
| Heterozygous 'null allele' mutation in the human peripherin/RDS gene | Q72250051 | ||
| A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family | Q72372579 | ||
| Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family | Q72531321 | ||
| A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease | Q72607125 | ||
| A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa | Q72617807 | ||
| Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa | Q72860607 | ||
| Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa | Q72874008 | ||
| Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa | Q72874016 | ||
| Missense rhodopsin mutation in a family with recessive RP | Q72874145 | ||
| Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin | Q72885075 | ||
| Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene | Q72889822 | ||
| Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa | Q73230936 | ||
| Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys | Q73314213 | ||
| A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu | Q73521319 | ||
| An analysis of allelic variation in the ABCA4 gene | Q73819654 | ||
| A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy | Q73854446 | ||
| Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS | Q74549892 | ||
| Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients | Q74606017 | ||
| [The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis] | Q74610464 | ||
| [The study of RDS gene mutation and clinical phenotype in a family with primary retinitis pigmentosa] | Q77657426 | ||
| Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients | Q77810067 | ||
| Acuity recovery and cone pigment regeneration after a bleach in patients with retinitis pigmentosa and rhodopsin mutations | Q78221975 | ||
| A point mutation of the rhodopsin gene in one form of retinitis pigmentosa | Q34168407 | ||
| A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa | Q34231296 | ||
| Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family | Q34231636 | ||
| Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa | Q34239582 | ||
| Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP) | Q34252783 | ||
| A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine) | Q34296603 | ||
| Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa | Q34297104 | ||
| Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. | Q34339881 | ||
| Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci | Q34342489 | ||
| Autosomal dominant Stargardt-like macular dystrophy | Q34385985 | ||
| The Framingham Eye Study. I. Outline and major prevalence findings | Q34395680 | ||
| Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations | Q34400676 | ||
| Molecular genetics of age-related macular degeneration | Q34416730 | ||
| Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. | Q34442339 | ||
| Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site | Q34656027 | ||
| Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa | Q34769339 | ||
| Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations | Q34842125 | ||
| Rhodopsin and retinitis pigmentosa: shedding light on structure and function | Q34981368 | ||
| Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin | Q35010653 | ||
| Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). | Q35010658 | ||
| Rhodopsin mutations in Chinese patients with retinitis pigmentosa | Q35321232 | ||
| 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging | Q35644545 | ||
| Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene | Q36361102 | ||
| Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation. | Q37298453 | ||
| Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site | Q37306318 | ||
| Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa | Q37309065 | ||
| Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene | Q37309913 | ||
| The epidemiology of open-angle glaucoma: a review | Q40154846 | ||
| Leber's hereditary optic neuropathy. New genetic considerations | Q40905018 | ||
| Mammalian mitochondrial genetics: heredity, heteroplasmy and disease | Q41653872 | ||
| Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa | Q43094692 | ||
| Gene therapy restores vision in a canine model of childhood blindness | Q43590733 | ||
| Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies | Q43695988 | ||
| Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation | Q43851195 | ||
| Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His | Q44078502 | ||
| Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations | Q44119130 | ||
| A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness | Q44128836 | ||
| Screening for point mutations in rhodopsin gene among one hundred Chinese patients with retinitis pigmentosa | Q44245187 | ||
| P921 | main subject | ophthalmology | Q161437 |
| genetic variation | Q349856 | ||
| eye disease | Q3041498 | ||
| P304 | page(s) | 437-484 | |
| P577 | publication date | 2003-01-01 | |
| P1433 | published in | Transactions of the American Ophthalmological Society annual meeting | Q26842158 |
| P1476 | title | Finding and interpreting genetic variations that are important to ophthalmologists | |
| P478 | volume | 101 |
| Q46538670 | A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses |
| Q37092442 | ABCA4 disease progression and a proposed strategy for gene therapy |
| Q35894226 | Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation |
| Q40180144 | Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. |
| Q35014281 | Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin |
| Q34662209 | Engineered Zinc Finger Nuclease–Mediated Homologous Recombination of the Human Rhodopsin Gene |
| Q36933329 | Familial cavitary optic disk anomalies: identification of a novel genetic locus. |
| Q33617837 | From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology |
| Q34893483 | Genetic diagnostic methods for inherited eye diseases |
| Q35662580 | Genotype and phenotype correlations in congenital glaucoma. |
| Q34197079 | Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies |
| Q35805426 | Improvement in vision: a new goal for treatment of hereditary retinal degenerations |
| Q36594335 | Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy |
| Q36734545 | Perspective on genes and mutations causing retinitis pigmentosa |
| Q46063664 | Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging. |
| Q30376939 | Predicting the pathogenicity of RPE65 mutations. |
| Q30440790 | Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families |
| Q37469575 | Progress toward effective treatments for human photoreceptor degenerations |
| Q37149399 | Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family |
| Q94554128 | The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice |
| Q47110206 | The genetic profile of Leber congenital amaurosis in an Australian cohort |
| Q45873271 | The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy |
| Q90453825 | Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy |
| Q33815181 | Which Leber congenital amaurosis patients are eligible for gene therapy trials? |
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