(Q37397610)

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Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

scientific article published on 12 June 2013

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Europe PubMed Central

PMC publication ID

20 August 2017

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits (English)

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

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Carmela Fusco

1

1 reference

Europe PubMed Central

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20 August 2017

Lucia Micale

2

1 reference

Europe PubMed Central

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20 August 2017

Bartolomeo Augello

3

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Europe PubMed Central

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20 August 2017

Maria Teresa Pellico

4

1 reference

Europe PubMed Central

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20 August 2017

Deny Menghini

5

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Europe PubMed Central

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20 August 2017

Paolo Alfieri

6

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Europe PubMed Central

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20 August 2017

Maria Cristina Digilio

7

1 reference

Europe PubMed Central

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20 August 2017

Barbara Mandriani

8

1 reference

Europe PubMed Central

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20 August 2017

Massimo Carella

9

1 reference

Europe PubMed Central

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20 August 2017

Orazio Palumbo

10

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Europe PubMed Central

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20 August 2017

Stefano Vicari

11

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Europe PubMed Central

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20 August 2017

Giuseppe Merla

12

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Europe PubMed Central

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20 August 2017

publication date

12 June 2013

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Europe PubMed Central

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20 August 2017

European Journal of Human Genetics

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Europe PubMed Central

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20 August 2017

22

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Europe PubMed Central

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20 August 2017

1

1 reference

Europe PubMed Central

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20 August 2017

64-70

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

14-3-3 proteins as signaling integration points for cell cycle control and apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

RETRACTED: Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

NMDA receptor function and NMDA receptor-dependent phosphorylation of huntingtin is altered by the endocytic protein HIP1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

GTF2IRD1 in craniofacial development of humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

Neuropsychological profile of Italians with Williams syndrome: an example of a dissociation between language and cognition?

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

https://api.crossref.org/works/10.1038%2FEJHG.2013.101

21 January 2018

https://api.crossref.org/works/10.1038%2FEJHG.2013.101

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

Williams syndrome: cognition, personality, and adaptive behavior

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

14 September 2017

Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

2 September 2018

GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

2 September 2018

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

2 September 2018

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

2 September 2018

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

2 September 2018

Frizzled9 protein is regionally expressed in the developing medial cortical wall and the cells derived from this region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

2 September 2018

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865388

2 September 2018

Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2

1 reference

https://pubmed.ncbi.nlm.nih.gov/23756441

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2013.101

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

ResearchGate publication ID

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