Association and mutation analyses of 16p11.2 autism candidate genes. - Wikidata - awgldk - TriplyDB

Association and mutation analyses of 16p11.2 autism candidate genes.

Association and mutation analyses of 16p11.2 autism candidate genes.

http://www.wikidata.org/entity/Q33412368

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Cerebral cortex expansion and folding: what have we learned?Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements Behavioral phenotypes of genetic mouse models of autism.Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism.Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size Behavioural phenotyping assays for mouse models of autism 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety A de novo convergence of autism genetics and molecular neuroscience.Discovery of variants unmasked by hemizygous deletions.Animal models of psychiatric disorders that reflect human copy number variation.Prioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.Metabolic and neuropsychiatric effects of calorie restriction and sirtuins Prostate-derived sterile 20-like kinases (PSKs/TAOKs) phosphorylate tau protein and are activated in tangle-bearing neurons in Alzheimer disease.Functions of the Alzheimer's Disease Protease BACE1 at the Synapse in the Central Nervous System.The conundrums of understanding genetic risks for autism spectrum disorders Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.Whole genome association studies in complex diseases: where do we stand?Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata.Phenotypic variability and genetic susceptibility to genomic disorders Glutamatergic candidate genes in autism spectrum disorder: an overview.Human Lineage-Specific Transcriptional Regulation through GA-Binding Protein Transcription Factor Alpha (GABPa).Association between copy number variants in 16p11.2 and major depressive disorder in a German case-control sample.Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.Kctd13 deletion reduces synaptic transmission via increased RhoA.Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.Duplication 16p11.2 in a child with infantile seizure disorder.Linking spatial gene expression patterns to sex-specific brain structural changes on a mouse model of 16p11.2 hemideletion.Detection of Genomic Imbalances by Array-Based Comparative Genomic Hybridization in Bulgarian Patients with Autism Spectrum Disorders

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Association and mutation analyses of 16p11.2 autism candidate genes.

http://www.wikidata.org/entity/Q33412368

description

2009 nî lūn-bûn

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2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի փետրվարին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Association and mutation analyses of 16p11.2 autism candidate genes.

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Association and mutation analyses of 16p11.2 autism candidate genes.

@en

type

label

Association and mutation analyses of 16p11.2 autism candidate genes.

@ast

Association and mutation analyses of 16p11.2 autism candidate genes.

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prefLabel

Association and mutation analyses of 16p11.2 autism candidate genes.

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Association and mutation analyses of 16p11.2 autism candidate genes.

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JOURNAL.PONE.0004582

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Association and mutation analyses of 16p11.2 autism candidate genes.

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Camille W Brune

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Christian R Marshall

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James S Sutcliffe

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Judith A Badner

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Jyotsna Sudi

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Kimberly A Aldinger

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Ravinesh A Kumar

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Samer Karamohamed

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Susan L Christian

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Timothy D Babatz

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Advances in autism genetics: on the threshold of a new neurobiology

Mapping Early Brain Development in Autism

Neuroanatomy of autism

Childhood autism and associated comorbidities

Wnt genes define distinct boundaries in the developing human brain: implications for human forebrain patterning

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

High frequency of neurexin 1beta signal peptide structural variants in patients with autism

Doc2: a novel brain protein having two repeated C2-like domains

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10.1371/JOURNAL.PONE.0004582

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Daniel Geschwind

Stephen W. Scherer

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2009-02-26T00:00:00Z

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24039838

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