Mutation of POC1B in a severe syndromic retinal ciliopathy
about
Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and functionLINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in MiceNew frontiers: discovering cilia-independent functions of cilia proteinsPEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and MicrocephalyNon-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneWDSPdb: a database for WD40-repeat proteinsFunctional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish.Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypesTALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.Case of Cone Dystrophy with Normal Fundus Appearance Associated with Biallelic POC1B Variants.Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.
P2860
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P2860
Mutation of POC1B in a severe syndromic retinal ciliopathy
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutation of POC1B in a severe syndromic retinal ciliopathy
@ast
Mutation of POC1B in a severe syndromic retinal ciliopathy
@en
Mutation of POC1B in a severe syndromic retinal ciliopathy
@en-gb
Mutation of POC1B in a severe syndromic retinal ciliopathy
@nl
type
label
Mutation of POC1B in a severe syndromic retinal ciliopathy
@ast
Mutation of POC1B in a severe syndromic retinal ciliopathy
@en
Mutation of POC1B in a severe syndromic retinal ciliopathy
@en-gb
Mutation of POC1B in a severe syndromic retinal ciliopathy
@nl
prefLabel
Mutation of POC1B in a severe syndromic retinal ciliopathy
@ast
Mutation of POC1B in a severe syndromic retinal ciliopathy
@en
Mutation of POC1B in a severe syndromic retinal ciliopathy
@en-gb
Mutation of POC1B in a severe syndromic retinal ciliopathy
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutation of POC1B in a severe syndromic retinal ciliopathy
@en
P2093
Andrea Hedergott
Andrea Pannes
Andrew M Fry
Antje Neugebauer
Bodo B Beck
Carsten Bergmann
Friederike Koerber
Hanno J Bolz
Heike Göbel
Holger Thiele
P2860
P304
P3181
P356
10.1002/HUMU.22618
P407
P50
P577
2014-10-01T00:00:00Z