Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
about
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesMolecular diagnosis of putative Stargardt disease by capture next generation sequencingExpression and localization of CERKL in the mammalian retina, its response to light-stress, and relationship with NeuroD1 geneSpecific sphingolipid content decrease in Cerkl knockdown mouse retinasMutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophyMutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementGenomic approaches for the discovery of genes mutated in inherited retinal degeneration.Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.A vertex similarity-based framework to discover and rank orphan disease-related genes.CERKL knockdown causes retinal degeneration in zebrafish.Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.Clinical and molecular characteristics of childhood-onset Stargardt disease.Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophyHomozygous missense variant in the human CNGA3 channel causes cone-rod dystrophyAn intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram.Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activationABCA4 gene screening by next-generation sequencing in a British cohortClinical characteristics of early retinal disease due to CDHR1 mutation.Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafishComprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.The molecular basis of retinal dystrophies in pakistan.Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.Mouse b-wave mutants.Human genetic disorders of sphingolipid biosynthesis.In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.Identifying mutations in Tunisian families with retinal dystrophyCERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish.EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.PROM1 gene variations in Brazilian patients with macular dystrophy.The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.
P2860
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P2860
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Homozygosity mapping in patien ...... nd clinical characterizations.
@ast
Homozygosity mapping in patien ...... nd clinical characterizations.
@en
Homozygosity mapping in patien ...... nd clinical characterizations.
@nl
type
label
Homozygosity mapping in patien ...... nd clinical characterizations.
@ast
Homozygosity mapping in patien ...... nd clinical characterizations.
@en
Homozygosity mapping in patien ...... nd clinical characterizations.
@nl
prefLabel
Homozygosity mapping in patien ...... nd clinical characterizations.
@ast
Homozygosity mapping in patien ...... nd clinical characterizations.
@en
Homozygosity mapping in patien ...... nd clinical characterizations.
@nl
P2093
P2860
P50
P356
P1476
Homozygosity mapping in patien ...... nd clinical characterizations.
@en
P2093
Anneke I den Hollander
Carel B Hoyng
Frans P M Cremers
Hester Y Kroes
Irma Lopez
Karin W Littink
Klaus Rohrschneider
L Ingeborgh van den Born
Luminita Moruz
Mahshad Darvish
P2860
P304
P356
10.1167/IOVS.10-5797
P407
P577
2010-06-16T00:00:00Z