about
Col4a1 mutations cause progressive retinal neovascular defects and retinopathyThe expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaExome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Neonatal hypertonia - a diagnostic challenge.Towards the identification of a genetic basis for Landau-Kleffner syndrome.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Fetal intracranial hemorrhage: sonographic criteria and merits of prenatal diagnosis.COL4A1 mutations should not be a contraindication for epilepsy surgery.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Neonatal stroke and haematuria: Answers.Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.Brain vascular heterogeneity: implications for disease pathogenesis and design of in vitro blood-brain barrier models.Fetal intracerebral hemorrhage and cataract: think COL4A1
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Childhood presentation of COL4A1 mutations
@ast
Childhood presentation of COL4A1 mutations
@en
Childhood presentation of COL4A1 mutations
@nl
type
label
Childhood presentation of COL4A1 mutations
@ast
Childhood presentation of COL4A1 mutations
@en
Childhood presentation of COL4A1 mutations
@nl
prefLabel
Childhood presentation of COL4A1 mutations
@ast
Childhood presentation of COL4A1 mutations
@en
Childhood presentation of COL4A1 mutations
@nl
P2093
P2860
P1476
Childhood presentation of COL4A1 mutations
@en
P2093
ANDREA WHITNEY
JULIA RANKIN
MARJO VAN DER KNAAP
NEIL STOODLEY
NIGEL OSBORNE
PHILIP JARDINE
RACHEL KNEEN
SIDDHARTH SHAH
P2860
P304
P356
10.1111/J.1469-8749.2011.04198.X
P407
P50
P577
2012-06-01T00:00:00Z