Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.
about
Severe NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stagesThe scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiation.Malformations of cortical development: clinical features and genetic causesDISC1 genetics, biology and psychiatric illnessNDE1 and NDEL1: twin neurodevelopmental proteins with similar 'nature' but different 'nurture'.Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly.Regulation of neuronal migration, an emerging topic in autism spectrum disorders.NDE1 and NDEL1 from genes to (mal)functions: parallel but distinct roles impacting on neurodevelopmental disorders and psychiatric illness.Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil.Human NDE1 splicing and mammalian brain development.Kinetochore Malfunction in Human Pathologies.Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.The NDE1 genomic locus can affect treatment of psychiatric illness through gene expression changes related to microRNA-484.Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.Comprehensive genotype-phenotype correlation in lissencephaly
P2860
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P2860
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.
description
2012 nî lūn-bûn
@nan
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
2012年论文
@zh
2012年论文
@zh-cn
name
Novel NDE1 homozygous mutation ...... ly and not microlyssencephaly.
@en
type
label
Novel NDE1 homozygous mutation ...... ly and not microlyssencephaly.
@en
prefLabel
Novel NDE1 homozygous mutation ...... ly and not microlyssencephaly.
@en
P2093
P2860
P1433
P1476
Novel NDE1 homozygous mutation ...... ly and not microlyssencephaly.
@en
P2093
Aslıhan Tolun
Ayse Guven
Aysegul Gunduz
Tarik M Bozoglu
P2860
P2888
P304
P356
10.1007/S10048-012-0326-9
P577
2012-04-15T00:00:00Z