Copy-number variations associated with autism spectrum disorder (Q37235652)

19 August 2017

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title

Copy-number variations associated with autism spectrum disorder (English)

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19 August 2017

main subject

autism spectrum disorder

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Hiroaki Kakinuma

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19 August 2017

Hitoshi Sato

series ordinal

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19 August 2017

language of work or name

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1 August 2008

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19 August 2017

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19 August 2017

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19 August 2017

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19 August 2017

page(s)

1143-1154

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Pharmacological Treatment Options for Autism Spectrum Disorders in Children and Adolescents

19 August 2017

cites work

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Antipsychotics in the treatment of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Characterization of autism in young children with tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Autism and genetics. A decade of research

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Heritable and nonheritable risk factors for autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Teaching spontaneous responses to young children with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

On the twin risk in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Autism as a strongly genetic disorder: evidence from a British twin study

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

A genomic screen of autism: evidence for a multilocus etiology

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Genetics of autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Evidence for multiple loci from a genome scan of autism kindreds.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

The genetics of autistic disorders and its clinical relevance: a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Are rare variants responsible for susceptibility to complex diseases?

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Autism as a paradigmatic complex genetic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Recent advances in the genetics of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

A unified genetic theory for sporadic and inherited autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Copy-number variation and association studies of human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Structural variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Copy number variation: new insights in genome diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Gene expression changes in children with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

21 January 2018

What is new in autism?

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Gene Copy Number Analysis by Fluorescencein SituHybridization and Comparative Genomic Hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Common deletion polymorphisms in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Relative impact of nucleotide and copy number variation on gene expression phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Deletion of chromosome 2q37 and autism: a distinct subtype?

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Molecular mechanisms for genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Recurrent 16p11.2 microdeletions in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Xp deletions associated with autism in three females

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

New insight into the role of the beta3 subunit of the GABAA-R in development, behavior, body weight regulation, and anesthesia revealed by conditional gene knockout

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Oxytocin increases trust in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Disruption of neurexin 1 associated with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Knockout of ERK1 MAP kinase enhances synaptic plasticity in the striatum and facilitates striatal-mediated learning and memory

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

DOC2A and DOC2B are sensors for neuronal activity with unique calcium-dependent and kinetic properties

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Autism: highly heritable but not inherited

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Genetic counseling in autism and pervasive developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

Recent development in pharmacogenomics: from candidate genes to genome-wide association studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.8.1143

10.2217/14622416.9.8.1143

21 January 2018

Identifiers

DOI

1 reference

19 August 2017

1 reference