Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

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http://www.wikidata.org/entity/Q36049811
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.CDHR1 mutations in retinal dystrophies.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in causing severe retinitis pigmentosa
P2860

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

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http://www.wikidata.org/entity/Q36049811
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Next-generation sequencing app ...... enotype-phenotype correlation.
@ast
Next-generation sequencing app ...... enotype-phenotype correlation.
@en
type
label
Next-generation sequencing app ...... enotype-phenotype correlation.
@ast
Next-generation sequencing app ...... enotype-phenotype correlation.
@en
prefLabel
Next-generation sequencing app ...... enotype-phenotype correlation.
@ast
Next-generation sequencing app ...... enotype-phenotype correlation.
@en
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P2860
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P5875
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Next-generation sequencing app ...... enotype-phenotype correlation.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P932