Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
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Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.Frizzled Receptors in Development and DiseaseThe application of transcriptomic data in the authentication of beef derived from contrasting production systems.From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.Analysis of candidate genes for macular telangiectasia type 2Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.Genetic evidence that Drosophila frizzled controls planar cell polarity and Armadillo signaling by a common mechanism.Familial exudative vitreoretinopathy and related retinopathies.Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patientsFurther evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigreeNext generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.Secreted and transmembrane wnt inhibitors and activators.Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVRNovel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathyFamilial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments.Wnt5a promotes Frizzled-4 signalosome assembly by stabilizing cysteine-rich domain dimerizationDefects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene.Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant.Familial Exudative Vitreoretinopathy.Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’Pharmacological Chaperones: Potential for the Treatment of Hereditary Diseases Caused by Mutations in G Protein-Coupled Receptors
P2860
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P2860
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@ast
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@en
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@en-gb
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@nl
type
label
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@ast
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@en
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@en-gb
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@nl
prefLabel
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@ast
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@en
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@en-gb
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@nl
P2093
P50
P356
P1476
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
@en
P2093
Alan Fryer
Binoy Appukuttan
Christina J Flaxel
Helen M Bottomley
J Timothy Stout
Jamie E Craig
Kang Zhang
Louise M Downey
Sheila Scott
P304
P356
10.1167/IOVS.03-1044
P407
P577
2004-07-01T00:00:00Z