ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
about
Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt diseaseIdentification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel AnalysisGenetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Molecular diagnosis of putative Stargardt Disease probands by exome sequencingGene therapy for PRPH2-associated ocular disease: challenges and prospectsTargeted exon sequencing in Usher syndrome type ICRB1 mutations in inherited retinal dystrophiesQuantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.Non-viral therapeutic approaches to ocular diseases: An overview and future directionsAutosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.Mthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice.PRPH2/RDS and ROM-1: Historical context, current views and future considerations.Fundus autofluorescence in the Abca4(-/-) mouse model of Stargardt disease--correlation with accumulation of A2E, retinal function, and histology.Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.Genetic modifiers and oligogenic inheritance.Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.Photoreceptor Cilia and Retinal Ciliopathies.Genetic modifiers as relevant biological variables of eye disorders.The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant
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ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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name
ABCA4 and ROM1: implications f ...... d macular dystrophy phenotype.
@en
ABCA4 and ROM1: implications f ...... d macular dystrophy phenotype.
@nl
type
label
ABCA4 and ROM1: implications f ...... d macular dystrophy phenotype.
@en
ABCA4 and ROM1: implications f ...... d macular dystrophy phenotype.
@nl
prefLabel
ABCA4 and ROM1: implications f ...... d macular dystrophy phenotype.
@en
ABCA4 and ROM1: implications f ...... d macular dystrophy phenotype.
@nl
P2093
P356
P1476
ABCA4 and ROM1: implications f ...... d macular dystrophy phenotype.
@en
P2093
Charlotte M Poloschek
Esther Glaus
Johannes R Lemke
John Neidhardt
Wolf A Lagrèze
Wolfgang Berger
P304
P356
10.1167/IOVS.09-4655
P407
P50
P577
2010-03-24T00:00:00Z