Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis - Wikidata - wikimedia - TriplyDB

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

http://www.wikidata.org/entity/Q28299434

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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.Retinitis pigmentosa and allied conditions today: a paradigm of translational research Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice.Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.Increased expression of MERTK is associated with a unique form of canine retinopathy The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.CRB1 mutations in inherited retinal dystrophies Towards understanding CRUMBS function in retinal dystrophies.Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants Perspective on genes and mutations causing retinitis pigmentosa.Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.Development of a genotyping microarray for Usher syndrome Mutation survey of known LCA genes and loci in the Saudi Arabian population Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.The molecular basis of retinal dystrophies in pakistan.CRB1: one gene, many phenotypes.Insights gained from gene therapy in animal models of retGC1 deficiency.Photoreceptor IFT complexes containing chaperones, guanylyl cyclase 1 and rhodopsin.Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson's disease.Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis.Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.The genetic profile of Leber congenital amaurosis in an Australian cohort.

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P2860

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

http://www.wikidata.org/entity/Q28299434

description

2006 nî lūn-bûn

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2006 թուականի Մարտին հրատարակուած գիտական յօդուած

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2006 թվականի մարտին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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Microarray-based mutation dete ...... ith Leber congenital amaurosis

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Microarray-based mutation dete ...... ith Leber congenital amaurosis

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Microarray-based mutation dete ...... ith Leber congenital amaurosis

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Microarray-based mutation dete ...... ith Leber congenital amaurosis

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Microarray-based mutation dete ...... ith Leber congenital amaurosis

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Microarray-based mutation dete ...... ith Leber congenital amaurosis

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Microarray-based mutation dete ...... ith Leber congenital amaurosis

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Microarray-based mutation dete ...... ith Leber congenital amaurosis

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Microarray-based mutation dete ...... ith Leber congenital amaurosis

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Anneke I den Hollander

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Bart P Leroy

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Elfride De Baere

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Frans P M Cremers

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Françoise Meire

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Ingele Casteels

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Jan-Tjeerd H N de Faber

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Johannes R Cruysberg

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Jose P Martinez Ciriano

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Klaus Rohrschneider

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