(Q50312875)

2 March 2018

title

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. (English)

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2 March 2018

main subject

autism spectrum disorder

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8

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2 March 2018

Magnus Nordenskjöld

11

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2 March 2018

Christopher Gillberg

7

object named as

Christopher Gillberg

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2 March 2018

3

Mats Eriksson

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2 March 2018

MaiBritt Giacobini

2

object named as

MaiBritt Giacobini

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2 March 2018

Britt-Marie Anderlid

10

object named as

Britt-Marie Anderlid

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2 March 2018

author name string

Anna Bremer

1

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2 March 2018

Peter Gustavsson

4

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2 March 2018

Viviann Nordin

5

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2 March 2018

Elisabeth Fernell

6

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2 March 2018

Asa Uppströmer

9

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2 March 2018

Jacqueline Schoumans

12

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2 March 2018

publication date

8 December 2010

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2 March 2018

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

published in

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2 March 2018

volume

156

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2 March 2018

page(s)

115-124

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2 March 2018

issue

2

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2 March 2018

Autism and tuberous sclerosis complex: prevalence and clinical features

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Increased LIS1 expression affects human and mouse brain development

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

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Identification of MeCP2 mutations in a series of females with autistic disorder

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Sex differences in oxytocin and vasopressin: implications for autism spectrum disorders?

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Autism: not an extremely rare disorder

21 January 2018

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

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Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

21 January 2018

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The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

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

21 January 2018

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Associated medical disorders and disabilities in children with autistic disorder: a population-based study

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21 January 2018

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

21 January 2018

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Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

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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Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

21 January 2018

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Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

21 January 2018

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Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

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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

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Phenomic determinants of genomic variation in autism spectrum disorders

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.B.31142

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31142

Global variation in copy number in the human genome

21 January 2018

1 reference

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Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2.

21 January 2018

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Strong association of de novo copy number mutations with autism

21 January 2018

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Clinical genetic testing for patients with autism spectrum disorders

21 January 2018

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Structural variation in the human genome and its role in disease

21 January 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

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Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31142

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31142

Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31142

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31142

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31142

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.31142

1 reference

2 March 2018

PubMed ID

21302340

1 reference

2 March 2018