Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations

Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations

Item
http://www.wikidata.org/entity/Q24675944
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypesNuclear receptors in stem cells and their therapeutic potentialRetina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null miceAbsence of NR2E1 mutations in patients with aniridia.TLX-Its Emerging Role for Neurogenesis in Health and Disease.A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing.
P2860

Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations

Item
http://www.wikidata.org/entity/Q24675944
description
2007 nî lūn-bûn
@nan
2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutation and evolutionary anal ...... severe cortical malformations
@ast
Mutation and evolutionary anal ...... severe cortical malformations
@en
Mutation and evolutionary anal ...... severe cortical malformations
@nl
type
label
Mutation and evolutionary anal ...... severe cortical malformations
@ast
Mutation and evolutionary anal ...... severe cortical malformations
@en
Mutation and evolutionary anal ...... severe cortical malformations
@nl
prefLabel
Mutation and evolutionary anal ...... severe cortical malformations
@ast
Mutation and evolutionary anal ...... severe cortical malformations
@en
Mutation and evolutionary anal ...... severe cortical malformations
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
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P433
P478
P50
P577
P698
P932
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P1433
P1476
Mutation and evolutionary anal ...... severe cortical malformations
@en
P2093
P2860
P304
P31
P356
10.1111/J.1601-183X.2006.00277.X
P407
P433
P478
P50
P577
P698
P932