(Q50302375)

2 March 2018

title

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

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2 March 2018

neurodevelopmental disorder

main subject

autism spectrum disorder

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autism

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1 reference

Jill A Rosenfeld

1

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2 March 2018

Blake C Ballif

2

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2 March 2018

Beth S Torchia

3

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2 March 2018

Trilochan Sahoo

4

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2 March 2018

J Britt Ravnan

5

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2 March 2018

Roger Schultz

6

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2 March 2018

Allen Lamb

7

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2 March 2018

Bassem A Bejjani

8

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2 March 2018

Lisa G Shaffer

9

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2 March 2018

language of work or name

English

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publication date

1 November 2010

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2 March 2018

published in

Genetics in Medicine

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2 March 2018

volume

12

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2 March 2018

issue

11

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2 March 2018

page(s)

694-702

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2 March 2018

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181f0c5f3

exact match

0 references

cites work

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

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Strong association of de novo copy number mutations with autism

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

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

21 January 2018

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A 15q13.3 microdeletion segregating with autism

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

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Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

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Large recurrent microdeletions associated with schizophrenia

21 January 2018

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Rethinking the nature of genetic vulnerability to autistic spectrum disorders

21 January 2018

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Phenotypic variations on the theme of CNVs

21 January 2018

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Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

21 January 2018

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

21 January 2018

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Genetics of austim: complex aetiology for a heterogeneous disorder

21 January 2018

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21 January 2018

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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

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

21 January 2018

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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

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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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

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Subtelomeric rearrangements detected in patients with idiopathic mental retardation

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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The chromosome 9q subtelomere deletion syndrome

21 January 2018

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21 January 2018

1 reference

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21 January 2018

1 reference

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Characterization of a recurrent 15q24 microdeletion syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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21 January 2018

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

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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10.1097/GIM.0B013E3181F0C5F3

21 January 2018

Identifiers

DOI

1 reference

2 March 2018

Dimensions Publication ID

0 references

1 reference

2 March 2018