Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.
about
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiencyChildhood presentation of COL4A1 mutationsPhenotypic spectrum of COL4A1 mutations: porencephaly to schizencephalyCOL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humansThe expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaHydranencephaly: cerebral spinal fluid instead of cerebral mantlesCOL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephalyCOL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.COL4A2 mutation associated with familial porencephaly and small-vessel disease.Cell-matrix interactions in muscle disease.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.Neonatal stroke and haematuria: Answers.A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.
P2860
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P2860
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Sporadic COL4A1 mutations with ...... ly resembling hydranencephaly.
@en
type
label
Sporadic COL4A1 mutations with ...... ly resembling hydranencephaly.
@en
prefLabel
Sporadic COL4A1 mutations with ...... ly resembling hydranencephaly.
@en
P2093
P1433
P1476
Sporadic COL4A1 mutations with ...... ly resembling hydranencephaly.
@en
P2093
F W Verheijen
G M S Mancini
H A Verbeek
L S de Vries
M E C Meuwissen
M H Lequin
M W Wessels
P P Govaert
P304
P356
10.1212/WNL.0B013E31820E7751
P407
P577
2011-03-01T00:00:00Z