(Q50302375)

2 March 2018

title

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders (English)

1 reference

https://api.crossref.org/works/10.1097/GIM.0B013E3181F0C5F3

neurodevelopmental disorder

4 July 2024

main subject

autism spectrum disorder

0 references

autism

0 references

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20808228

4 July 2024

Trilochan Sahoo

1 reference

2 March 2018

Roger Schultz

1 reference

2 March 2018

Allen Lamb

1 reference

2 March 2018

Jill A. Rosenfeld

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20808228

4 July 2024

Blake C. Ballif

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20808228

4 July 2024

Beth S. Torchia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20808228

4 July 2024

J. Britt Ravnan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20808228

4 July 2024

Bassem A. Bejjani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20808228

4 July 2024

Lisa G. Shaffer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20808228

4 July 2024

language of work or name

English

0 references

publication date

1 November 2010

1 reference

2 March 2018

full work available at URL

http://www.gimjournal.org/article/S1098360021019687/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20808228

https://api.elsevier.com/content/article/PII:S1098360021019687?httpAccept=text/xml

4 July 2024

1 reference

https://api.crossref.org/works/10.1097/GIM.0B013E3181F0C5F3

https://api.elsevier.com/content/article/PII:S1098360021019687?httpAccept=text/plain

4 July 2024

1 reference

https://api.crossref.org/works/10.1097/GIM.0B013E3181F0C5F3

4 July 2024

1 reference

2 March 2018

volume

1 reference

2 March 2018

issue

1 reference

2 March 2018

page(s)

694-702

1 reference

2 March 2018

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

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

21 January 2018

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A unified genetic theory for sporadic and inherited autism

21 January 2018

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First in vivo evidence of an NMDA receptor deficit in medication-free schizophrenic patients

21 January 2018

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Clinical genetic testing for patients with autism spectrum disorders

21 January 2018

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Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

21 January 2018

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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

21 January 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

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

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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Recurrent 16p11.2 microdeletions in autism

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Strong association of de novo copy number mutations with autism

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

21 January 2018

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

A 15q13.3 microdeletion segregating with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Rethinking the nature of genetic vulnerability to autistic spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Phenotypic variations on the theme of CNVs

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Genetics of austim: complex aetiology for a heterogeneous disorder

21 January 2018

1 reference

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Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome.

21 January 2018

1 reference

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Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

21 January 2018

1 reference

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Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

21 January 2018

1 reference

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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

21 January 2018

1 reference

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Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.

21 January 2018

1 reference

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Emerging themes and new challenges in defining the role of structural variation in human disease

21 January 2018

1 reference

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Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Depletion of MAP2 expression and laminar cytoarchitectonic changes in dorsolateral prefrontal cortex in adult autistic individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2p25.3 in a child with mental retardation: uses and limitations of fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Calibration of 6q subtelomere deletions to define genotype/phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

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/10.1097%2FGIM.0B013E3181F0C5F3

The chromosome 9q subtelomere deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

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/10.1097%2FGIM.0B013E3181F0C5F3

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Characterization of a recurrent 15q24 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

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/10.1097%2FGIM.0B013E3181F0C5F3

Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

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/10.1097%2FGIM.0B013E3181F0C5F3

The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Evidence supporting WNT2 as an autism susceptibility gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

A genetic variant that disrupts MET transcription is associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181F0C5F3

21 January 2018

Identifiers

1 reference

2 March 2018

Dimensions Publication ID

1011508640

0 references

1 reference

2 March 2018