Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. - Wikidata - awgldk - TriplyDB

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

http://www.wikidata.org/entity/Q33908247

about

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina A comprehensive review of retinal gene therapy Tyro3 Modulates Mertk-Associated Retinal Degeneration Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.CRB1 mutations in inherited retinal dystrophies Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.Gucy2f zebrafish knockdown--a model for Gucy2d-related leber congenital amaurosis.Genetic dissection of TAM receptor-ligand interaction in retinal pigment epithelial cell phagocytosis.Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy.Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.SIRPα polymorphisms, but not the prion protein, control phagocytosis of apoptotic cells.Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.MERTK controls melanoma cell migration and survival and differentially regulates cell behavior relative to AXL.Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.CRB1: one gene, many phenotypes.Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus.Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.Role of the nucleotidyl cyclase helical domain in catalytically active dimer formation.The genetic profile of Leber congenital amaurosis in an Australian cohort.Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.The RPGRIP1-related retinal phenotype in children.

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P2860

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

http://www.wikidata.org/entity/Q33908247

description

2011 nî lūn-bûn

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2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2011 թվականի մայիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年论文

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Detection of variants in 15 ge ...... th Leber congenital amaurosis.

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Detection of variants in 15 ge ...... th Leber congenital amaurosis.

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Detection of variants in 15 ge ...... th Leber congenital amaurosis.

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Detection of variants in 15 ge ...... th Leber congenital amaurosis.

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Detection of variants in 15 ge ...... th Leber congenital amaurosis.

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Detection of variants in 15 ge ...... th Leber congenital amaurosis.

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Detection of variants in 15 ge ...... th Leber congenital amaurosis.

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J Fielding Hejtmancik

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Lin Li

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Panfeng Wang

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Qingjiong Zhang

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Shiqiang Li

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Xiangming Guo

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Xiaodong Jiao

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Xiaoyun Jia

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Xueshan Xiao

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P2860

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Mutations in RPE65 cause Leber's congenital amaurosis

CRB1 mutation spectrum in inherited retinal dystrophies

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