Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. - Wikidata - awgldk - TriplyDB

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

http://www.wikidata.org/entity/Q34599654

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WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders Autism genome-wide copy number variation reveals ubiquitin and neuronal genes Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex Epigenomic profiling reveals DNA-methylation changes associated with major psychosis Epigenetic Effect of Environmental Factors on Autism Spectrum Disorders Characterizing autism spectrum disorders by key biochemical pathways.Function and regulation of AUTS2, a gene implicated in autism and human evolution Genomic analysis of wig-1 pathways Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.Neuronal Migration and AUTS2 Syndrome.DIA1R is an X-linked gene related to Deleted In Autism-1.Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly.An Intrinsic Transcriptional Program Underlying Synaptic Scaling during Activity Suppression Transcriptional dysregulation of neocortical circuit assembly in ASD A genome-wide map of human genetic interactions inferred from radiation hybrid genotypes.Relative burden of large CNVs on a range of neurodevelopmental phenotypes.Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.Genetic copy number variation and general cognitive ability Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene Chapter 15: disease gene prioritization.Rare SERINC2 variants are specific for alcohol dependence in individuals of European descent Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Structural variation-associated expression changes are paralleled by chromatin architecture modifications.Tay bridge is a negative regulator of EGFR signalling and interacts with Erk and Mkp3 in the Drosophila melanogaster wing.Genomic sister-disorders of neurodevelopment: an evolutionary approach Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.Copy-number variations associated with autism spectrum disorder.The role of AUTS2 in neurodevelopment and human evolution.

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Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

http://www.wikidata.org/entity/Q34599654

description

2007 nî lūn-bûn

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2007 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2007 թվականի հունվարին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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Mutations in autism susceptibi ...... ients with mental retardation.

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Mutations in autism susceptibi ...... ients with mental retardation.

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Mutations in autism susceptibility candidate 2

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Mutations in autism susceptibi ...... ients with mental retardation.

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Mutations in autism susceptibi ...... ients with mental retardation.

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Mutations in autism susceptibility candidate 2

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Mutations in autism susceptibi ...... ients with mental retardation.

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Mutations in autism susceptibi ...... ients with mental retardation.

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Mutations in autism susceptibility candidate 2

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Mutations in autism susceptibi ...... tients with mental retardation

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Andreas Tzschach

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Corinna Menzel

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Erik Niebuhr

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Luitgard M Neumann

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