High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability
about
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromePhelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoringPrevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersOxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient ratPhelan-McDermid Syndrome and SHANK3: Implications for Treatment.Absence of strong strain effects in behavioral analyses of Shank3-deficient miceLoss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission.Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID.Dysregulation of group-I metabotropic glutamate (mGlu) receptor mediated signalling in disorders associated with Intellectual Disability and AutismFragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits.Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.The role of ionotropic glutamate receptors in childhood neurodevelopmental disorders: autism spectrum disorders and fragile x syndrome.Modeling autism by SHANK gene mutations in mice.SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders.Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.Oxytocin and Animal Models for Autism Spectrum Disorder.Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome.Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.Synaptic Disorders
P2860
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P2860
High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
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
name
High proportion of 22q13 delet ...... s with intellectual disability
@ast
High proportion of 22q13 delet ...... s with intellectual disability
@en
High proportion of 22q13 delet ...... s with intellectual disability
@nl
type
label
High proportion of 22q13 delet ...... s with intellectual disability
@ast
High proportion of 22q13 delet ...... s with intellectual disability
@en
High proportion of 22q13 delet ...... s with intellectual disability
@nl
prefLabel
High proportion of 22q13 delet ...... s with intellectual disability
@ast
High proportion of 22q13 delet ...... s with intellectual disability
@en
High proportion of 22q13 delet ...... s with intellectual disability
@nl
P2093
P2860
P1433
P1476
High proportion of 22q13 delet ...... s with intellectual disability
@en
P2093
Bai-Lin Wu
Hongyan Wang
Jingmin Wang
Xiaohong Gong
Yangfei Sun
P2860
P304
P356
10.1371/JOURNAL.PONE.0034739
P407
P577
2012-04-11T00:00:00Z