Severe intellectual disability and autistic features associated with microduplication 2q23.1.
about
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesFunctional interaction between Lypd6 and nicotinic acetylcholine receptors.Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.Systems genetics of the lateral septal nucleus in mouse: heritability, genetic control, and covariation with behavioral and morphological traits.Mid-gestational gene expression profile in placenta and link to pregnancy complications.Cortical parvalbumin and somatostatin GABA neurons express distinct endogenous modulators of nicotinic acetylcholine receptors.Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.Extended spectrum of MBD5 mutations in neurodevelopmental disorders.Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.T-Brain-1--A Potential Master Regulator in Autism Spectrum Disorders.Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.Gene-Expression Analysis Identifies IGFBP2 Dysregulation in Dental Pulp Cells From Human Cleidocranial Dysplasia.DNA Methylation and Adult Neurogenesis.
P2860
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P2860
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
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
Severe intellectual disability ...... with microduplication 2q23.1.
@ast
Severe intellectual disability ...... with microduplication 2q23.1.
@en
type
label
Severe intellectual disability ...... with microduplication 2q23.1.
@ast
Severe intellectual disability ...... with microduplication 2q23.1.
@en
prefLabel
Severe intellectual disability ...... with microduplication 2q23.1.
@ast
Severe intellectual disability ...... with microduplication 2q23.1.
@en
P2093
P2860
P356
P1476
Severe intellectual disability ...... with microduplication 2q23.1.
@en
P2093
Anath C Lionel
Brian H Y Chung
Christian R Marshall
D James Stavropoulos
Lauren Brick
Lucie Dupuis
Rosanna Weksberg
Sarah H Elsea
Sureni Mullegama
P2860
P2888
P304
P356
10.1038/EJHG.2011.199
P577
2011-11-16T00:00:00Z