RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
about
The role of primary cilia in the development and disease of the retinaWhole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.Genome scans for detecting footprints of local adaptation using a Bayesian factor model.De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaExome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyNovel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Juvenile-onset macular degeneration and allied disordersOccult macular dystrophy.Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling.Photoreceptor Cilia and Retinal Ciliopathies.Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.Cone dystrophy in patient with homozygous RP1L1 mutation.Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family.Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
P2860
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P2860
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
description
2013 nî lūn-bûn
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2013 թուականի Մարտին հրատարակուած գիտական յօդուած
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2013 թվականի մարտին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
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name
RP1L1 variants are associated ...... a and occult macular dystrophy
@ast
RP1L1 variants are associated ...... a and occult macular dystrophy
@en
RP1L1 variants are associated ...... a and occult macular dystrophy
@en-gb
RP1L1 variants are associated ...... a and occult macular dystrophy
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type
label
RP1L1 variants are associated ...... a and occult macular dystrophy
@ast
RP1L1 variants are associated ...... a and occult macular dystrophy
@en
RP1L1 variants are associated ...... a and occult macular dystrophy
@en-gb
RP1L1 variants are associated ...... a and occult macular dystrophy
@nl
prefLabel
RP1L1 variants are associated ...... a and occult macular dystrophy
@ast
RP1L1 variants are associated ...... a and occult macular dystrophy
@en
RP1L1 variants are associated ...... a and occult macular dystrophy
@en-gb
RP1L1 variants are associated ...... a and occult macular dystrophy
@nl
P2093
P2860
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P3181
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RP1L1 variants are associated ...... a and occult macular dystrophy
@en
P2093
Alice E Davidson
Andrew R Webster
Anthony G Robson
Anthony T Moore
Genevieve A Wright
Graham E Holder
Michel Michaelides
Naushin H Waseem
Panagiotis I Sergouniotis
P2860
P304
P3181
P356
10.1002/HUMU.22264
P407
P577
2013-03-01T00:00:00Z