about
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureGenotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)Norrin attenuates protease-mediated death of transformed retinal ganglion cellsAt the speed of sound: gene discovery in the auditory systemRecent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.Beginning of a molecular era in hearing and deafness.A fetus with an X;1 balanced reciprocal translocation and eye disease.Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.Fzd4 Haploinsufficiency Delays Retinal Revascularization in the Mouse Model of Oxygen Induced RetinopathyATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreousIdentification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.Proteins associated with the Myxococcus xanthus extracellular matrix.Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVRThe Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease.Mutations in the Norrie disease gene: a new mutation in a Japanese family.Taking Stock of Retinal Gene Therapy: Looking Back and Moving Forward.Molecular genetics as a 'probe' in ophthalmology.Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene.Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.If only you do it well. Autobiography.Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells.Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.Report on Norrie's cytology.
P2860
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P2860
description
1992 nî lūn-bûn
@nan
1992 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Mutations in the candidate gene for Norrie disease.
@ast
Mutations in the candidate gene for Norrie disease.
@en
Mutations in the candidate gene for Norrie disease.
@nl
type
label
Mutations in the candidate gene for Norrie disease.
@ast
Mutations in the candidate gene for Norrie disease.
@en
Mutations in the candidate gene for Norrie disease.
@nl
prefLabel
Mutations in the candidate gene for Norrie disease.
@ast
Mutations in the candidate gene for Norrie disease.
@en
Mutations in the candidate gene for Norrie disease.
@nl
P2093
P356
P1476
Mutations in the candidate gene for Norrie disease.
@en
P2093
Bleeker-Wagemakers L
de Silva H
van de Pol D
P304
P356
10.1093/HMG/1.7.461
P577
1992-10-01T00:00:00Z