(Q34464442)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23118870%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome (English)

1 reference

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16 February 2020

1

1 reference

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16 February 2020

John B Kwok

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23118870%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Peter R Schofield

4

1 reference

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16 February 2020

author name string

Carol Dobson-Stone

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23118870%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

William Beckett

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23118870%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

May Tassabehji

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23118870%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

language of work or name

English

0 references

publication date

31 October 2012

1 reference

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16 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23118870%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

volume

7

1 reference

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16 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23118870%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

page(s)

e47457

1 reference

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Creative Commons Attribution 4.0 International

16 February 2020

copyright license

start time

31 October 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice

1 reference

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Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.

6 July 2018

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6 July 2018

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Neural mechanisms of belief inference during cooperative games

6 July 2018

1 reference

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Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

The Allen Brain Atlas: 5 years and beyond

6 July 2018

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An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

6 July 2018

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Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

6 July 2018

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A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation

6 July 2018

1 reference

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William's syndrome: gene expression is related to parental origin and regional coordinate control

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Psychopathological and behavior impairments in Williams-Beuren syndrome: the influence of gender, chronological age, and cognition.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Brain abnormalities in Williams syndrome: a review of structural and functional magnetic resonance imaging findings

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Shifting set about task switching: behavioral and neural evidence for distinct forms of cognitive flexibility

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Identification of the TFII-I family target genes in the vertebrate genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Transcription factor TFII-I conducts a cytoplasmic orchestra

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

GTF2IRD1 in craniofacial development of humans and mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

An experiment of nature: brain anatomy parallels cognition and behavior in Williams syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

A gene atlas of the mouse and human protein-encoding transcriptomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Prevalence estimation of Williams syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Difficulty in writing Japanese semantic characters in a 9-year-old boy with Williams syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Verbal and nonverbal abilities in the Williams syndrome phenotype: evidence for diverging developmental trajectories

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS-PL): initial reliability and validity data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Language and cognition in two children with Williams syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

Supravalvular aortic stenosis.

6 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

Theory of mind in Williams syndrome assessed using a nonverbal task.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

The neuropsychological basis of hypersociability in Williams and Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

Brain biochemistry in Williams syndrome: evidence for a role of the cerebellum in cognition?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

Anomalous sylvian fissure morphology in Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

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.0047457

Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

Cognitive heterogeneity in Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

Global and local processing in Williams syndrome, autism, and Down syndrome: perception, attention, and construction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

Social approach in pre-school children with Williams syndrome: the role of the face.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

Dissociating cognitive from affective theory of mind: a TMS study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

Disorder-specific inferior prefrontal hypofunction in boys with pure attention-deficit/hyperactivity disorder compared to boys with pure conduct disorder during cognitive flexibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

Individual differences in executive functions are almost entirely genetic in origin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0047457

Disorder-specific dysfunction in right inferior prefrontal cortex during two inhibition tasks in boys with attention-deficit hyperactivity disorder compared to boys with obsessive-compulsive disorder

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485271

The Williams syndrome cognitive profile

27 October 2018

1 reference

12 December 2020

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

1 reference

12 December 2020

Testing for suspected impairments and dissociations in single-case studies in neuropsychology: evaluation of alternatives using monte carlo simulations and revised tests for dissociations

1 reference

12 December 2020

Williams-Beuren syndrome: a model of recurrent genomic mutation

1 reference

12 December 2020

Association between cerebral shape and social use of language in Williams syndrome

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0047457

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23118870%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23118870%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

PubMed publication ID

23118870

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23118870%20AND%20SRC:MED&resulttype=core&format=json