| scholarly article | Q13442814 |
| P819 | ADS bibcode | 1990PNAS...87..701O |
| P356 | DOI | 10.1073/PNAS.87.2.701 |
| P932 | PMC publication ID | 53333 |
| P698 | PubMed publication ID | 2300556 |
| P5875 | ResearchGate publication ID | 260931215 |
| P2093 | author name string | J D Chen | |
| A Gal | |||
| S Bhattacharya | |||
| J Ott | |||
| G A Fishman | |||
| M J Denton | |||
| J Donald | |||
| G J Farrar | |||
| D Frey | |||
| C Dubay | |||
| P2860 | cites work | Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28 | Q28265989 |
| Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation | Q28282607 | ||
| Linkage analysis of X linked retinitis pigmentosa in the Irish population. | Q33592604 | ||
| Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies | Q33673972 | ||
| The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy | Q33673995 | ||
| Risk calculations under heterogeneity | Q35197408 | ||
| Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome | Q35200261 | ||
| Efficient computations in multilocus linkage analysis | Q35245413 | ||
| Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis | Q35247496 | ||
| Two different genes for X-linked retinitis pigmentosa | Q45310086 | ||
| A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome | Q57405691 | ||
| Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7 | Q68519079 | ||
| Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers | Q69837442 | ||
| X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome | Q70101111 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | retinitis pigmentosa | Q847057 |
| P304 | page(s) | 701-4 | |
| P577 | publication date | 1990-01-01 | |
| P1433 | published in | Proceedings of the National Academy of Sciences of the United States of America | Q1146531 |
| P1476 | title | Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests | |
| P478 | volume | 87 |
| Q43870417 | A comparative study on genetic heterogeneity in tuberous sclerosis: evidence for one gene on 9q34 and a second gene on 11q22-23. |
| Q24612935 | A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa |
| Q67737740 | A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities |
| Q24540164 | A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 |
| Q28282762 | A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) |
| Q52786879 | A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX). |
| Q35196927 | A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes |
| Q67841749 | A multipedigree linkage study of X-linked deafness: Linkage to Xq13-q21 and evidence for genetic heterogeneity |
| Q34387798 | A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. |
| Q35882882 | A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. |
| Q37298453 | Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation. |
| Q37704572 | Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa. |
| Q46798132 | Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications. |
| Q24678278 | Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families |
| Q35198577 | Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe |
| Q35194501 | Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q. |
| Q60079628 | Blindness and the X |
| Q35889762 | Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). |
| Q77814533 | Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype |
| Q28210984 | Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes |
| Q56241301 | Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling |
| Q30894148 | Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data |
| Q24517919 | Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1 |
| Q90353664 | Critical Decrease in the Level of Axon Guidance Receptor ROBO1 in Rod Synaptic Terminals Is Followed by Axon Retraction |
| Q51168173 | Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene. |
| Q42546549 | Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q |
| Q72391041 | Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family |
| Q24514994 | Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). |
| Q42950776 | Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21. |
| Q57251965 | Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome |
| Q34390529 | Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene |
| Q33597258 | Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred |
| Q68330961 | Genetic mapping of loci for X-linked retinitis pigmentosa |
| Q39695790 | Hereditary retinopathies: insights into a complex genetic aetiology |
| Q35889226 | Heterogeneity analysis in 40 X-linked retinitis pigmentosa families |
| Q28247337 | Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness |
| Q48076634 | Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. |
| Q28207567 | Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains |
| Q35228749 | Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations |
| Q43142564 | Interpreting nonsignificant outcomes of heterogeneity tests in gene mapping |
| Q35665694 | Investigation of disease mechanisms in retinitis pigmentosa |
| Q31158480 | Isolation of a candidate gene for Norrie disease by positional cloning |
| Q52876562 | Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation. |
| Q30502692 | Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase |
| Q34384129 | Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. |
| Q35195036 | Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region |
| Q77796076 | Linkage disequilibrium mapping of complex disease: fantasy or reality? |
| Q35198479 | Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity |
| Q63315266 | Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q |
| Q35198587 | Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa |
| Q33642751 | Management of hereditary retinal degenerations: present status and future directions |
| Q43235655 | Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. |
| Q36730324 | Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts |
| Q42543146 | Molecular advances in retinitis pigmentosa |
| Q38913621 | Molecular cloning and characterization of dystrophin and Dp71, two products of the Duchenne Muscular Dystrophy gene, in zebrafish |
| Q47609854 | Molecular genetics of human retinal dystrophies |
| Q36794716 | Molecular studies of phenotype variation in canine RPGR-XLPRA1. |
| Q41175581 | Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. |
| Q41654411 | Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families |
| Q42631280 | Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa |
| Q36467228 | Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease |
| Q54449556 | Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. |
| Q24540229 | Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study |
| Q34610277 | Mutations of RPGR in X-linked retinitis pigmentosa (RP3). |
| Q43739577 | Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa |
| Q42684772 | Population haplotypes of exon ORF15 of the retinitis pigmentosa GTPase regulator gene in Germany : implications for screening for inherited retinal disorders |
| Q24322014 | Positional cloning of the gene for X-linked retinitis pigmentosa 2 |
| Q31113482 | Prioritization of retinal disease genes: an integrative approach |
| Q33322223 | Progressive retinal atrophy in the Border Collie: a new XLPRA. |
| Q24540158 | Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa |
| Q24532214 | RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa |
| Q36083346 | RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa |
| Q34559746 | RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa |
| Q50459877 | RPGR mutation analysis and disease: an update |
| Q33596248 | Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous |
| Q72720058 | Refined mapping of the human Ets-related gene Elk-1 to Xp11.2-p11.4, distal to the OATL1 region |
| Q57417820 | Regulation of adenylyl cyclase in LTP |
| Q34144057 | Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15 |
| Q46599847 | Reply to Inglehearn and Hardcastle: The Map Is Not the Territory |
| Q46902104 | Reply to leder and hodge |
| Q33596177 | Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci |
| Q33534644 | Retinitis pigmentosa: defined from a molecular point of view |
| Q37309587 | Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four |
| Q43145860 | Risk calculation in retinitis pigmentosa. |
| Q24313576 | Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa |
| Q74549886 | Summary of ocular genetic disorders and inherited systemic conditions with eye findings |
| Q35659678 | The future of genetic epidemiology |
| Q42649071 | The human retinitis pigmentosa GTPase regulator gene variant database |
| Q57258198 | Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa |
| Q28216433 | Update on the molecular genetics of retinitis pigmentosa |
| Q72567848 | X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation? |
| Q37216323 | X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 |
| Q24672691 | X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11 |
| Q28291575 | X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60 |
| Q43231821 | Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes |
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