RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Item
http://www.wikidata.org/entity/Q37952620
A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breedsGenetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian familyNovel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeTargeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophyDevelopment and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesGenotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesAllelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.FGF signaling emerged concomitantly with the origin of Eumetazoans.
P2860

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Item
http://www.wikidata.org/entity/Q37952620
description
article científic
@ca
article scientifique
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articol științific
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articolo scientifico
@it
artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
RP1 and autosomal dominant rod ...... enotype-phenotype correlation.
@en
RP1 and autosomal dominant rod ...... enotype-phenotype correlation.
@nl
type
label
RP1 and autosomal dominant rod ...... enotype-phenotype correlation.
@en
RP1 and autosomal dominant rod ...... enotype-phenotype correlation.
@nl
prefLabel
RP1 and autosomal dominant rod ...... enotype-phenotype correlation.
@en
RP1 and autosomal dominant rod ...... enotype-phenotype correlation.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
RP1 and autosomal dominant rod ...... enotype-phenotype correlation.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698