Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.
about
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Genetic advances in the study of speech and language disordersMechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsBehavioral phenotypes of genetic mouse models of autism.Genetic susceptibility and neurotransmitters in Tourette syndromeA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disordersConnecting the CNTNAP2 Networks with Neurodevelopmental DisordersWidespread differences in cortex DNA methylation of the "language gene" CNTNAP2 between humans and chimpanzeesShining a light on CNTNAP2: complex functions to complex disorders.What does CNTNAP2 reveal about autism spectrum disorder?CNTNAP2 and language processing in healthy individuals as measured with ERPsRecent advances in the genetics of language impairmentLanguage-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirdsIndividual common variants exert weak effects on the risk for autism spectrum disordersTowards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders.The hypothesis of apraxia of speech in children with autism spectrum disorder.Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies.Discovery of variants unmasked by hemizygous deletions.Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.A candidate gene association study further corroborates involvement of contactin genes in autismMonogenic and chromosomal causes of isolated speech and language impairment.Aberrant diffusion and geometric properties in the left arcuate fasciculus of developmentally delayed children: a diffusion tensor imaging studyRuns of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model.Defining the contribution of CNTNAP2 to autism susceptibility.Reduced transcript expression of genes affected by inherited and de novo CNVs in autismCNTNAP2 variants affect early language development in the general populationAutism risk assessment in siblings of affected children using sex-specific genetic scores.No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autismDissection of genetic associations with language-related traits in population-based cohorts.Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neuronsExpanding the range of ZNF804A variants conferring risk of psychosis.Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activationGain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes.The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery.Suppression and epigenetic regulation of MiR-9 contributes to ethanol teratology: evidence from zebrafish and murine fetal neural stem cell modelsTourette syndrome: gene expression as a tool to discover drug targets.
P2860
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P2860
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Disruption of CNTNAP2 and addi ...... and autism spectrum disorder.
@en
Disruption of CNTNAP2 and addi ...... and autism spectrum disorder.
@nl
type
label
Disruption of CNTNAP2 and addi ...... and autism spectrum disorder.
@en
Disruption of CNTNAP2 and addi ...... and autism spectrum disorder.
@nl
prefLabel
Disruption of CNTNAP2 and addi ...... and autism spectrum disorder.
@en
Disruption of CNTNAP2 and addi ...... and autism spectrum disorder.
@nl
P2093
P1433
P1476
Disruption of CNTNAP2 and addi ...... and autism spectrum disorder.
@en
P2093
Ira Schwaab
Jo Prothero
Martin Poot
Natalja Damatova
Ruben Van't Slot
Sue E Holder
Thomas Haaf
Vera Beyer
P2888
P356
10.1007/S10048-009-0205-1
P577
2009-07-07T00:00:00Z