Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.
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Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.Stem Cell Therapies in Retinal Disorders.Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencingKnocking Down Snrnp200 Initiates Demorphogenesis of Rod Photoreceptors in Zebrafish.High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.Small molecules targeting glycogen synthase kinase 3 as potential drug candidates for the treatment of retinitis pigmentosa.Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopiaOlaparib significantly delays photoreceptor loss in a model for hereditary retinal degenerationRetinitis pigmentosa and ocular blood flow.Prevalence of generalized retinal dystrophy in Denmark.Gender specific issues in hereditary ocular disorders.Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.Efficacy of PARP inhibition in Pde6a mutant mouse models for retinitis pigmentosa depends on the quality and composition of individual human mutations.A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation.Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34.Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.Validity and cost-effectiveness of cone adaptation test as a screening tool to detect retinitis pigmentosa.Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.PRPF4 mutations cause autosomal dominant retinitis pigmentosa.A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa.Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
P2860
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P2860
Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.
@ast
Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.
@en
type
label
Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.
@ast
Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.
@en
prefLabel
Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.
@ast
Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.
@en
P2093
P2860
P1433
P1476
Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.
@en
P2093
Adolfo Sebastiani
Alessandro Galan
Ciro Costagliola
Elisabeth Milan
Francesco Parmeggiani
Marzio Chizzolini
P2860
P304
P356
10.2174/138920211795860071
P577
2011-06-01T00:00:00Z