CALL gene is haploinsufficient in a 3p- syndrome patient
about
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndromeThe novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation3p-- syndrome defines a hearing loss locus in 3p25.3Misguided axonal projections, neural cell adhesion molecule 180 mRNA upregulation, and altered behavior in mice deficient for the close homolog of L1Neural recognition molecules CHL1 and NB-3 regulate apical dendrite orientation in the neocortex via PTP alphaCHL1 is a selective organizer of the presynaptic machinery chaperoning the SNARE complexAdvanced microscopic imaging methods to investigate cortical development and the etiology of mental retardation.A WAVE-1 and WRP signaling complex regulates spine density, synaptic plasticity, and memory.Single-chain variable fragment antibodies against the neural adhesion molecule CHL1 (close homolog of L1) enhance neurite outgrowth.Differential expression of CHL1 gene during development of major human cancers.Role of the axonal initial segment in psychiatric disorders: function, dysfunction, and interventionRegulation of the postsynaptic cytoskeleton: roles in development, plasticity, and disorders.Telomeres: a diagnosis at the end of the chromosomesA 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypesNovel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review.Loss of cell adhesion molecule CHL1 improves homeostatic adaptation and survival in hypoxic stressTumor suppressor genes on frequently deleted chromosome 3p in nasopharyngeal carcinomaImpaired working memory duration but normal learning abilities found in mice that are conditionally deficient in the close homolog of L1Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature.Close homolog of L1 is an enhancer of integrin-mediated cell migration.Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes.Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity.Confocal Synaptology: Synaptic Rearrangements in Neurodegenerative Disorders and upon Nervous System Injury.Age-dependent loss of parvalbumin-expressing hippocampal interneurons in mice deficient in CHL1, a mental retardation and schizophrenia susceptibility gene.Evidence of selection signatures that shape the Persian cat breed.Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.An integrated genomic analysis of gene-function correlation on schizophrenia susceptibility genes.
P2860
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P2860
CALL gene is haploinsufficient in a 3p- syndrome patient
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
CALL gene is haploinsufficient in a 3p- syndrome patient
@ast
CALL gene is haploinsufficient in a 3p- syndrome patient
@en
CALL gene is haploinsufficient in a 3p- syndrome patient
@nl
type
label
CALL gene is haploinsufficient in a 3p- syndrome patient
@ast
CALL gene is haploinsufficient in a 3p- syndrome patient
@en
CALL gene is haploinsufficient in a 3p- syndrome patient
@nl
prefLabel
CALL gene is haploinsufficient in a 3p- syndrome patient
@ast
CALL gene is haploinsufficient in a 3p- syndrome patient
@en
CALL gene is haploinsufficient in a 3p- syndrome patient
@nl
P2093
P2860
P3181
P1476
CALL gene is haploinsufficient in a 3p- syndrome patient
@en
P2093
P2860
P3181
P356
10.1002/(SICI)1096-8628(19991029)86:5<482::AID-AJMG15>3.0.CO;2-L
P407
P577
1999-10-29T00:00:00Z