De Novo Gene Disruptions in Children on the Autistic Spectrum
about
Biomarkers in autismGene-environment interactions in human health: case studies and strategies for developing new paradigms and research methodologiesDe novo mutations in moderate or severe intellectual disabilityTranscriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant miceNeuropathology and animal models of autism: genetic and environmental factorsEnvironmental and state-level regulatory factors affect the incidence of autism and intellectual disabilityFrom mouse to human: evolutionary genomics analysis of human orthologs of essential genesDisruptive CHD8 mutations define a subtype of autism early in developmentCHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitorsDe novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesA SWI/SNF-related autism syndrome caused by de novo mutations in ADNPDe novo mutations in epileptic encephalopathiesRefinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorderXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingRecent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing TechnologyThe Evolving Diagnostic and Genetic Landscapes of Autism Spectrum DisorderPrenatal Neurogenesis in Autism Spectrum DisordersMicrotubule plus-end tracking proteins in neuronal developmentMutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism EtiologyThe Involvement of Neuron-Specific Factors in Dendritic Spinogenesis: Molecular Regulation and Association with Neurological DisordersThe Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic PotentialGenes, circuits, and precision therapies for autism and related neurodevelopmental disordersGenetic disruption of voltage-gated calcium channels in psychiatric and neurological disordersThe developmental transcriptome of the human brain: implications for neurodevelopmental disordersSynaptic plasticity, neural circuits, and the emerging role of altered short-term information processing in schizophrenia.The sodium leak channel, NALCN, in health and diseaseGenome-scale neurogenetics: methodology and meaningChannelopathy pathogenesis in autism spectrum disordersGenetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigeneticsLearning and behavioral deficits associated with the absence of the fragile X mental retardation protein: what a fly and mouse model can teach us.Treatment of neurodevelopmental disorders in adulthoodNeurogenomics of speech and language disorders: the road aheadRNA protein interaction in neuronsThe role of AGG interruptions in fragile X repeat expansions: a twenty-year perspectiveProgress in the genetics of polygenic brain disorders: significant new challenges for neurobiologyThe FMRP regulon: from targets to disease convergenceThe unstable repeats--three evolving faces of neurological diseaseConverging Pathways in Autism Spectrum Disorders: Interplay between Synaptic Dysfunction and Immune ResponsesA genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Single-neuron and genetic correlates of autistic behavior in macaque.
P2860
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P2860
De Novo Gene Disruptions in Children on the Autistic Spectrum
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
De Novo Gene Disruptions in Children on the Autistic Spectrum
@ast
De Novo Gene Disruptions in Children on the Autistic Spectrum
@en
type
label
De Novo Gene Disruptions in Children on the Autistic Spectrum
@ast
De Novo Gene Disruptions in Children on the Autistic Spectrum
@en
prefLabel
De Novo Gene Disruptions in Children on the Autistic Spectrum
@ast
De Novo Gene Disruptions in Children on the Autistic Spectrum
@en
P2093
P2860
P50
P3181
P1433
P1476
De novo gene disruptions in children on the autistic spectrum
@en
P2093
Anthony Leotta
Asya Stepansky
Beicong Ma
Boris Yamrom
Elaine R Mardis
Elena Ghiban
Ewa Grabowska
Giuseppe Narzisi
Inessa Hakker
P2860
P304
P3181
P356
10.1016/J.NEURON.2012.04.009
P407
P577
2012-04-01T00:00:00Z