An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. (Q34328422)

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1 February 2020

title

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

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1 February 2020

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Williams-Beuren syndrome

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based on heuristic

inferred from title

author

Giovanni Battista Ferrero

1

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1 February 2020

Lucia Micale

3

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1 February 2020

Carmela Fusco

6

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1 February 2020

author name string

Elisa Biamino

4

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1 February 2020

Bartolomeo Augello

5

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1 February 2020

Maria Giuseppina Turturo

7

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1 February 2020

Serena Forzano

8

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1 February 2020

Giuseppe Merla

10

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1 February 2020

Cédric Howald

2

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1 February 2020

Alexandre Reymond

9

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1 February 2020

publication date

1 January 2010

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European Journal of Human Genetics

1 February 2020

published in

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volume

18

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1 February 2020

issue

1

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1 February 2020

page(s)

33-38

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

1 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in 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=2987159

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=2987159

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language 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=2987159

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

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=2987159

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=2987159

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

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=2987159

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=2987159

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

Mutational mechanisms of Williams-Beuren syndrome deletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

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=2987159

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=2987159

Identification of additional transcripts in the Williams-Beuren syndrome critical region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

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=2987159

WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

Elastin: mutational spectrum in supravalvular aortic stenosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

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=2987159

A transcription factor involved in skeletal muscle gene expression is deleted in 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=2987159

Williams-Beuren syndrome: genes and mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

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=2987159

Linguistic dissociations in Williams syndrome: evaluating receptive syntax in on-line and off-line tasks

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987159

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.108

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.108

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/10.1038%2FEJHG.2009.108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.108

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/10.1038%2FEJHG.2009.108

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/10.1038%2FEJHG.2009.108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.108

Parieto-occipital grey matter abnormalities in children with Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.108

Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.108

Thyroid anomalies in Williams syndrome: investigation of 95 patients

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19568270

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19568270

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19568270%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

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1 February 2020

PubMed publication ID

19568270

1 reference