Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
about
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephalyNeuropathology and animal models of autism: genetic and environmental factorsMitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticistGenetics evaluation for the etiologic diagnosis of autism spectrum disordersEvolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophreniaAdvances in autism genetics: on the threshold of a new neurobiologyAnalysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine modelDisruptive CHD8 mutations define a subtype of autism early in developmentPhosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalitiesReduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism.Phosphorylation of the actin binding protein Drebrin at S647 is regulated by neuronal activity and PTENA comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromesNYAP: a phosphoprotein family that links PI3K to WAVE1 signalling in neuronsProtein kinases and phosphatases in the control of cell fateA clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probandsDe novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesGenetics of autistic disorders: review and clinical implicationsThe tuberous sclerosis complexMicroduplications of 16p11.2 are associated with schizophreniaCurrent developments in the genetics of autism: from phenome to genomemTOR signaling: at the crossroads of plasticity, memory and diseaseThe genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disordersClinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders.Prenatal Neurogenesis in Autism Spectrum DisordersA Short Review on the Current Understanding of Autism Spectrum DisordersThe PI3K signaling pathway as a pharmacological target in Autism related disorders and Schizophrenia.Clinical Genetic Aspects of ASD Spectrum DisordersMutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism EtiologyPrefrontal Cortex and Social Cognition in Mouse and ManBehavioral phenotypes of genetic mouse models of autism.Characterizing autism spectrum disorders by key biochemical pathways.Roles of mTOR Signaling in Brain DevelopmentBalancing Proliferation and Connectivity in PTEN-associated Autism Spectrum DisorderThe neurology of mTORPTEN: A master regulator of neuronal structure, function, and plasticityNetworking in autism: leveraging genetic, biomarker and model system findings in the search for new treatmentsMolecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disordersDendritic spine dysgenesis in autism related disordersPTEN modulators: a patent review
P2860
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P2860
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Subset of individuals with aut ...... mour suppressor gene mutations
@ast
Subset of individuals with aut ...... mour suppressor gene mutations
@en
Subset of individuals with aut ...... mour suppressor gene mutations
@nl
type
label
Subset of individuals with aut ...... mour suppressor gene mutations
@ast
Subset of individuals with aut ...... mour suppressor gene mutations
@en
Subset of individuals with aut ...... mour suppressor gene mutations
@nl
prefLabel
Subset of individuals with aut ...... mour suppressor gene mutations
@ast
Subset of individuals with aut ...... mour suppressor gene mutations
@en
Subset of individuals with aut ...... mour suppressor gene mutations
@nl
P2093
P3181
P356
P1476
Subset of individuals with aut ...... mour suppressor gene mutations
@en
P2093
M G Butler
M J Dasouki
R Pilarski
R Stratton
T N Takahashi
Z Talebizadeh
P304
P3181
P356
10.1136/JMG.2004.024646
P407
P50
P577
2005-04-01T00:00:00Z