(Q34192973)

31 July 2017

title

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype (English)

1 reference

31 July 2017

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Williams-Beuren syndrome

1 reference

1 reference

4

Annick Toutain

1 reference

31 July 2017

12

Alain Verloes

1 reference

31 July 2017

1

Sylvie Tordjman

1 reference

31 July 2017

8

Clarisse Baumann

1 reference

31 July 2017

George M Anderson

2

1 reference

31 July 2017

Michel Botbol

3

1 reference

31 July 2017

Pierre Sarda

5

1 reference

31 July 2017

Michèle Carlier

6

1 reference

31 July 2017

Pascale Saugier-Veber

7

1 reference

31 July 2017

David Cohen

9

1 reference

31 July 2017

Céline Lagneaux

10

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31 July 2017

Anne-Claude Tabet

11

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31 July 2017

language of work or name

English

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publication date

6 March 2012

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31 July 2017

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31 July 2017

volume

7

1 reference

31 July 2017

issue

3

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31 July 2017

page(s)

e30778

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Creative Commons Attribution 4.0 International

31 July 2017

copyright license

start time

6 March 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Development itself is the key to understanding developmental disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Honing in on the social phenotype in Williams syndrome using multiple measures and multiple raters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Overlap with the autism spectrum in young children with Williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Genetic advances in autism: heterogeneity and convergence on shared pathways

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Language and communicative development in Williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

5-HTTLPR Genotype-Specific Phenotype in Children and Adolescents With Autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

GTF2IRD1 in craniofacial development of humans and mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Severe expressive-language delay related to duplication of the Williams-Beuren locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Characterizing the musical phenotype in individuals with Williams Syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Genetic investigation of quantitative traits related to autism: use of multivariate polygenic models with ascertainment adjustment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

5 July 2018

The genetics of autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Pragmatic language impairment and social deficits in Williams syndrome: a comparison with Down's syndrome and specific language impairment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Mutational mechanisms of Williams-Beuren syndrome deletions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Can Adolescents With Williams Syndrome Tell the Difference Between Lies and Jokes?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Prevalence estimation of Williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Role of the serotonin transporter gene in the behavioral expression of autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Elastin: mutational spectrum in supravalvular aortic stenosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

I. The neurocognitive profile of Williams Syndrome: a complex pattern of strengths and weaknesses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Williams syndrome: cognition, personality, and adaptive behavior

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

A componential view of theory of mind: evidence from Williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Second-order belief attribution in Williams syndrome: intact or impaired?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Visuospatial construction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Williams-Beuren syndrome: genes and mechanisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Family contexts, parental behaviour, and personality profiles of children and adolescents with Prader-Willi, fragile-X, or Williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome

5 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

5 July 2018

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Language and Williams syndrome: how intact is "intact"?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Behavioural phenotypes and family stress in three mental retardation syndromes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Linguistic abilities in Italian children with Williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Practitioner review: developmental language disorders: a clinical update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Hemispheric function in developmental language disorders and high-level autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Brief report: four case histories and a literature review of Williams syndrome and autistic behavior

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Autism associated with Williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Williams syndrome: serotonin's association with developmental disabilities.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Natural history of Williams syndrome: physical characteristics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

A cognitive and behavioural phenotype in williams syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Autism by another name? Semantic and pragmatic impairments in children

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

The Williams elfin facies syndrome. A new perspective

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Supravalvular aortic stenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Configural and local processing of faces in children with Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Exploring the Williams syndrome face-processing debate: the importance of building developmental trajectories

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Cognitive modularity and genetic disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Language acquisition in special populations: a comparison between Down and Williams syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Autism and Williams syndrome: a case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Socio-communicative deficits in young children with Williams syndrome: performance on the Autism Diagnostic Observation Schedule.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Social interaction behaviors discriminate young children with autism and Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Combining information from multiple sources in the diagnosis of autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Nocturnal excretion of 6-sulphatoxymelatonin in children and adolescents with autistic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Adults with Williams syndrome. Preliminary study of social, emotional and behavioural difficulties.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Adaptive behavior of 4- through 8-year-old children with Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

II. Hypersociability in Williams Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

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/10.1371%2FJOURNAL.PONE.0030778

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Serotonin transporter promoter variants in autism: functional effects and relationship to platelet hyperserotonemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

Distinctive Personality Characteristics of 8-, 9-, and 10-Year-Olds With Williams Syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

A study of relative clauses in Williams syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Value of a clinical morphology examination in autism.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295800

Is everybody always my friend? Perception of approachability in Williams syndrome

28 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0030778

The williams elfin facies syndrome: the psychological profile as an aid in syndrome identification

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22412832

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22412832

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Language and conversational abilities in Williams syndrome: how good is good?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22412832

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0030778

1 reference

31 July 2017

0 references

1 reference

31 July 2017

1 reference