| scholarly article | Q13442814 |
| case report | Q2782326 |
| P50 | author | F. Yesim Demirci | Q42869000 |
| Juliane Ramser | Q112180444 | ||
| P2093 | author name string | Elias I Traboulsi | |
| Brian W Rigatti | |||
| Michael B Gorin | |||
| Tammy S Mah | |||
| Gaiping Wen | |||
| Tiina Alitalo | |||
| Amy L Radak | |||
| Corrine L Baic | |||
| P2860 | cites work | Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa | Q24313576 |
| Positional cloning of the gene for X-linked retinitis pigmentosa 2 | Q24322014 | ||
| Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests | Q24559869 | ||
| X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11 | Q24672691 | ||
| Novel mutations of the RPGR gene in RP3 families | Q28140034 | ||
| X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function | Q28143245 | ||
| A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) | Q28282762 | ||
| Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 | Q28290670 | ||
| Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping | Q28297842 | ||
| X-linked retinitis pigmentosa | Q33649367 | ||
| 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 | Q34144057 | ||
| Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. | Q34384129 | ||
| Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity | Q35250459 | ||
| Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). | Q35889762 | ||
| X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis | Q37304721 | ||
| Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa | Q42631280 | ||
| X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers | Q44224593 | ||
| Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3 | Q57971945 | ||
| X-linked retinitis pigmentosa. Profile of clinical findings | Q68091227 | ||
| X-linked cone dystrophy. An overlooked diagnosis? | Q68829311 | ||
| DNA carrier detection in X-linked progressive cone dystrophy | Q72163350 | ||
| Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree | Q73904727 | ||
| Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa | Q77380653 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | cone-rod dystrophy | Q18553315 |
| P304 | page(s) | 1049-1053 | |
| P577 | publication date | 2002-02-20 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 | |
| P478 | volume | 70 |
| Q24612935 | A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa |
| Q35592909 | A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. |
| Q24677020 | A new genetic locus for X linked progressive cone-rod dystrophy |
| Q58788991 | A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report |
| Q40196670 | A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. |
| Q35016967 | A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype |
| Q98665176 | A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation |
| Q35629063 | A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family |
| Q33999124 | Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations |
| Q35591946 | An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene |
| 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. |
| Q28084726 | Biology and therapy of inherited retinal degenerative disease: insights from mouse models |
| Q51159050 | Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus. |
| Q90912820 | Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants |
| Q52647919 | Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. |
| Q35226344 | Clinical course of cone dystrophy caused by mutations in the RPGR gene |
| 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 |
| Q21202953 | Cone rod dystrophies |
| Q36122430 | Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) |
| Q37016489 | Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa. |
| Q28533822 | Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes |
| Q35045072 | Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR |
| Q59355750 | Gene therapy for the treatment of X-linked retinitis pigmentosa |
| Q35751018 | Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa |
| Q46137938 | Genetic causes of hereditary cone and cone-rod dystrophies |
| Q46379155 | Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations |
| Q34018557 | Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. |
| Q37519162 | Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia |
| Q24673320 | Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization |
| Q36717820 | Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing |
| Q47701145 | Insight into the molecular genetics of myopia |
| Q36294702 | Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms |
| Q24535622 | Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations |
| Q28287923 | Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration |
| Q24673292 | Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis |
| Q36676811 | Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina |
| Q37189157 | Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice |
| Q43235655 | Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. |
| Q28114957 | Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). |
| 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. |
| Q36049811 | Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation |
| Q38030482 | Non-syndromic retinal ciliopathies: translating gene discovery into therapy |
| Q34265929 | Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families |
| Q37484370 | Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation |
| Q57488598 | Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa |
| Q43422368 | PRPF4 mutations cause autosomal dominant retinitis pigmentosa |
| Q90418693 | Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies |
| Q36232633 | Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations |
| Q36890858 | Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa. |
| Q33964906 | Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. |
| Q42684772 | Population haplotypes of exon ORF15 of the retinitis pigmentosa GTPase regulator gene in Germany : implications for screening for inherited retinal disorders |
| Q24532214 | RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa |
| Q24298139 | RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin |
| Q90710507 | RPGR gene therapy presents challenges in cloning the coding sequence |
| Q50459877 | RPGR mutation analysis and disease: an update |
| Q44640058 | RPGR mutations might cause reduced orientation of respiratory cilia |
| Q37313093 | RPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner. |
| Q89510411 | RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features |
| Q38722345 | RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. |
| Q37822729 | RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy |
| Q36341124 | RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review |
| Q44521176 | RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons |
| Q34260042 | Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15 |
| Q26770321 | Retinal dystrophies, genomic applications in diagnosis and prospects for therapy |
| Q36121779 | Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons |
| Q30528634 | Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms |
| Q42649071 | The human retinitis pigmentosa GTPase regulator gene variant database |
| Q36951820 | The retinal ciliopathies. |
| Q37164602 | Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration |
| Q38801986 | Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration |
| Q24305973 | X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene |
| Q24336274 | X-linked cone dystrophy caused by mutation of the red and green cone opsins |
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