De Novo Gene Disruptions in Children on the Autistic Spectrum - sprookjes - yvandenbroek - TriplyDB

De Novo Gene Disruptions in Children on the Autistic Spectrum

De Novo Gene Disruptions in Children on the Autistic Spectrum

http://www.wikidata.org/entity/Q29394534

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Biomarkers in autism Gene-environment interactions in human health: case studies and strategies for developing new paradigms and research methodologies De novo mutations in moderate or severe intellectual disability Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice Neuropathology and animal models of autism: genetic and environmental factors Environmental and state-level regulatory factors affect the incidence of autism and intellectual disability From mouse to human: evolutionary genomics analysis of human orthologs of essential genes Disruptive CHD8 mutations define a subtype of autism early in development CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP De novo mutations in epileptic encephalopathies Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder Prenatal Neurogenesis in Autism Spectrum Disorders Microtubule plus-end tracking proteins in neuronal development Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology The Involvement of Neuron-Specific Factors in Dendritic Spinogenesis: Molecular Regulation and Association with Neurological Disorders The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders The developmental transcriptome of the human brain: implications for neurodevelopmental disorders Synaptic plasticity, neural circuits, and the emerging role of altered short-term information processing in schizophrenia.The sodium leak channel, NALCN, in health and disease Genome-scale neurogenetics: methodology and meaning Channelopathy pathogenesis in autism spectrum disorders Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics Learning 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 adulthood Neurogenomics of speech and language disorders: the road ahead RNA protein interaction in neurons The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology The FMRP regulon: from targets to disease convergence The unstable repeats--three evolving faces of neurological disease Converging Pathways in Autism Spectrum Disorders: Interplay between Synaptic Dysfunction and Immune Responses A 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.

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De Novo Gene Disruptions in Children on the Autistic Spectrum

http://www.wikidata.org/entity/Q29394534

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2012 nî lūn-bûn

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2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2012 թվականի ապրիլին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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De Novo Gene Disruptions in Children on the Autistic Spectrum

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De Novo Gene Disruptions in Children on the Autistic Spectrum

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De Novo Gene Disruptions in Children on the Autistic Spectrum

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De Novo Gene Disruptions in Children on the Autistic Spectrum

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De Novo Gene Disruptions in Children on the Autistic Spectrum

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De Novo Gene Disruptions in Children on the Autistic Spectrum

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J.NEURON.2012.04.009

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De novo gene disruptions in children on the autistic spectrum

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Anthony Leotta

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Asya Stepansky

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Beicong Ma

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Boris Yamrom

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Dan Levy

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Elaine R Mardis

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Elena Ghiban

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Ewa Grabowska

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Giuseppe Narzisi

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Inessa Hakker

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P2860

Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood

Variation in genome-wide mutation rates within and between human families

Correction of fragile X syndrome in mice.

An Eulerian path approach to DNA fragment assembly

Functional impact of global rare copy number variation in autism spectrum disorders

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

Strong association of de novo copy number mutations with autism

Fast and accurate short read alignment with Burrows-Wheeler transform

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10.1016/J.NEURON.2012.04.009

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W. Richard McCombie

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Mitchell Bekritsky

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224865971

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Autism spectrum

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3619976

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