Strong association of de novo copy number mutations with autism - Wikidata - awgldk - TriplyDB

Strong association of de novo copy number mutations with autism

Strong association of de novo copy number mutations with autism

http://www.wikidata.org/entity/Q24633543

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Novel association strategy with copy number variation for identifying new risk Loci of human diseases A common and unstable copy number variant is associated with differences in Glo1 expression and anxiety-like behavior Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs Why are autism spectrum conditions more prevalent in males?Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry Mutation screening of melatonin-related genes in patients with autism spectrum disorders Genomic and epigenetic evidence for oxytocin receptor deficiency in autism Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly Recent advances in the pathogenesis of syndromic autisms Chronic cocaine-regulated epigenomic changes in mouse nucleus accumbens.Finding the missing heritability of complex diseases Mapping and sequencing of structural variation from eight human genomes Advances in autism Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist What causes attention deficit hyperactivity disorder?Genetics evaluation for the etiologic diagnosis of autism spectrum disorders Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia Advances in autism genetics: on the threshold of a new neurobiology Minor physical anomalies in autism: a meta-analysis The genetics of bipolar disorder Autism: many genes, common pathways?Autism and brain development Rare chromosomal deletions and duplications increase risk of schizophrenia Autism, fever, epigenetics and the locus coeruleus Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability Rare deletions at the neurexin 3 locus in autism spectrum disorder 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 Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism.SHANK1 Deletions in Males with Autism Spectrum Disorder Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments.The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 Functional impact of global rare copy number variation in autism spectrum disorders Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism Common genetic variants on 5p14.1 associate with autism spectrum disorders Autism risk factors: genes, environment, and gene-environment interactions Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

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Strong association of de novo copy number mutations with autism

http://www.wikidata.org/entity/Q24633543

description

2007 nî lūn-bûn

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2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի ապրիլին 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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2007年論文

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2007年論文

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2007年论文

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name

Strong association of de novo copy number mutations with autism

@ast

Strong association of de novo copy number mutations with autism

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Strong association of de novo copy number mutations with autism

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type

label

Strong association of de novo copy number mutations with autism

@ast

Strong association of de novo copy number mutations with autism

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Strong association of de novo copy number mutations with autism

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prefLabel

Strong association of de novo copy number mutations with autism

@ast

Strong association of de novo copy number mutations with autism

@en

Strong association of de novo copy number mutations with autism

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Strong association of de novo copy number mutations with autism

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Alex Krasnitz

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Annette T Lee

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Anthony Leotta

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B Lakshmi

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Boris Yamrom

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Christa Lese-Martin

http://www.w3.org/2001/XMLSchema#string

David Ledbetter

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David Skuse

http://www.w3.org/2001/XMLSchema#string

Deepa Pai

http://www.w3.org/2001/XMLSchema#string

Dheeraj Malhotra

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P2860

Structural variation in the human genome

Genetics of autism spectrum disorder

Are rare variants responsible for susceptibility to complex diseases?

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

The human genome browser at UCSC

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Detection of large-scale variation in the human genome

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

Oxytocin increases trust in humans

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Daniel Geschwind

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Mary-Claire King

Peter K. Gregersen

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6442890

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