Structural variation of chromosomes in autism spectrum disorder - Test2 - elhamkhani - TriplyDB

Structural variation of chromosomes in autism spectrum disorder

Structural variation of chromosomes in autism spectrum disorder

http://www.wikidata.org/entity/Q24656970

about

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes GROM-RD: resolving genomic biases to improve read depth detection of copy number variants Relationships between gene expression and brain wiring in the adult rodent brain Why are autism spectrum conditions more prevalent in males?Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees Genomic and epigenetic evidence for oxytocin receptor deficiency in autism Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 Recent advances in the pathogenesis of syndromic autisms Human-specific histone methylation signatures at transcription start sites in prefrontal neurons Advances in autism Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia Advances in autism genetics: on the threshold of a new neurobiology Neuroligins and neurexins link synaptic function to cognitive disease Minor physical anomalies in autism: a meta-analysis Revealing the genetic basis of multiple sclerosis: are we there yet?Autism: many genes, common pathways?Autism and brain development Rare chromosomal deletions and duplications increase risk of schizophrenia Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia 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 A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation SHANK1 Deletions in Males with Autism Spectrum Disorder CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia Loss of δ-catenin function in severe autism Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments.Functional impact of global rare copy number variation in autism spectrum disorders Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3 Linkage and candidate gene studies of autism spectrum disorders in European populations Common genetic variants on 5p14.1 associate with autism spectrum disorders Autism risk factors: genes, environment, and gene-environment interactions Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism Large, rare chromosomal deletions associated with severe early-onset obesity

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P2860

Structural variation of chromosomes in autism spectrum disorder

http://www.wikidata.org/entity/Q24656970

description

2008 nî lūn-bûn

@nan

2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2008年の論文

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2008年論文

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2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

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2008年论文

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name

Structural variation of chromosomes in autism spectrum disorder

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Structural variation of chromosomes in autism spectrum disorder

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Structural variation of chromosomes in autism spectrum disorder

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type

label

Structural variation of chromosomes in autism spectrum disorder

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Structural variation of chromosomes in autism spectrum disorder

@en

Structural variation of chromosomes in autism spectrum disorder

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prefLabel

Structural variation of chromosomes in autism spectrum disorder

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Structural variation of chromosomes in autism spectrum disorder

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Structural variation of chromosomes in autism spectrum disorder

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J.AJHG.2007.12.009

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American Journal of Human Genetics

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Structural variation of chromosomes in autism spectrum disorder

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Abdul Noor

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Ahmad Teebi

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

Anath C Lionel

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

Andreas Fiebig

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

Ann Thompson

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

Bhooma Thiruvahindrapduram

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

Bridget Fernandez

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

Cathy Vardy

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

Cees E J Ketelaars

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

Christian R Marshall

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

P2860

Structural variation in the human genome

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

Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism

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

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

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

Human chromosome 7: DNA sequence and biology

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Strong association of de novo copy number mutations with autism

Contribution of SHANK3 mutations to autism spectrum disorder

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477-88

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10.1016/J.AJHG.2007.12.009

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2

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82

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Anne O. Summers

Lonnie Zwaigenbaum

Stephen W. Scherer

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2008-02-01T00:00:00Z

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5600494

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18252227

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Autism spectrum

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2426913

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