(Q30484771)

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Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. (English)

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

autism spectrum disorder

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0 references

Catalina Betancur

13

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Europe PubMed Central

PMC publication ID

17 August 2017

Evdokia Anagnostou

12

object named as

Evdokia Anagnostou

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Europe PubMed Central

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17 August 2017

14

object named as

Joseph D Buxbaum

1 reference

Europe PubMed Central

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17 August 2017

10

object named as

Eric Hollander

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Europe PubMed Central

PMC publication ID

17 August 2017

1

object named as

Guiqing Cai

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Europe PubMed Central

17 August 2017

PMC publication ID

11

object named as

Latha Soorya

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Europe PubMed Central

17 August 2017

PMC publication ID

5

object named as

Alisa Nakamine

1 reference

Europe PubMed Central

17 August 2017

PMC publication ID

author name string

Lisa Edelmann

2

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Europe PubMed Central

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17 August 2017

Juliet E Goldsmith

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Ninette Cohen

4

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Europe PubMed Central

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17 August 2017

Jennifer G Reichert

6

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Europe PubMed Central

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17 August 2017

Ellen J Hoffman

7

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Europe PubMed Central

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17 August 2017

Danielle M Zurawiecki

8

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Europe PubMed Central

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17 August 2017

Jeremy M Silverman

9

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Europe PubMed Central

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17 August 2017

publication date

16 October 2008

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Europe PubMed Central

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17 August 2017

BMC Medical Genomics

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Europe PubMed Central

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17 August 2017

1

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Europe PubMed Central

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17 August 2017

50

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Structural variation of chromosomes in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Disruption of neurexin 1 associated with autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Recurrent 16p11.2 microdeletions in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Abnormal melatonin synthesis in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Strong association of de novo copy number mutations with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Childhood autism and associated comorbidities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Necdin promotes GABAergic neuron differentiation in cooperation with Dlx homeodomain proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Microduplication and triplication of 22q11.2: a highly variable syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Autism as a paradigmatic complex genetic disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

MLPA and MAPH: new techniques for detection of gene deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

A comprehensive analysis of 22q11 gene expression in the developing and adult brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Disease susceptibility genes for autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Prevalence of autism in a US metropolitan area

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Association between a GABRB3 polymorphism and autism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Neuropsychiatric disorders in the 22q11 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Characterization of integrin-tetraspanin adhesion complexes: role of tetraspanins in integrin signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Xp deletions associated with autism in three females.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Diagnosing autism: analyses of data from the Autism Diagnostic Interview.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

20 June 2018

CDC: autism spectrum disorders common.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

Mutation screening and transmission disequilibrium study of ATP10C in autism.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

The imprinted gene Magel2 regulates normal circadian output.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

Autism, language delay and mental retardation in a patient with 7q11 duplication.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

ITGB3 shows genetic and expression interaction with SLC6A4.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

Autism spectrum disorder and Klinefelter syndrome

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-1-50

21 January 2018

The XYY syndrome: a follow-up study on 38 boys

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2588447

26 November 2018

COMT genotype and cognitive ability: a longitudinal aging study

1 reference

https://pubmed.ncbi.nlm.nih.gov/18925931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay

1 reference

https://pubmed.ncbi.nlm.nih.gov/18925931

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1755-8794-1-50

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1755-8794-1-50

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

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