(Q52118273)

English

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

scientific article published in June 2002

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12080386%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12080386%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12080386%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

Hans-Christoph Duba

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12080386%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Michael Neyer

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12080386%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Martin Erdel

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12080386%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Christian Mann

5

1 reference

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10 November 2019

Ignaz Hammerer

6

1 reference

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10 November 2019

Gerd Utermann

7

1 reference

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10 November 2019

Karl-Heinz Grzeschik

8

1 reference

Europe PubMed Central

PubMed publication ID

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10 November 2019

publication date

1 June 2002

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10 November 2019

European Journal of Human Genetics

1 reference

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10 November 2019

10

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10 November 2019

6

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10 November 2019

351-361

1 reference

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10 November 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200812

0 references

Supravalvular aortic stenosis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Williams-Beuren syndrome: genes and mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Elastin: mutational spectrum in supravalvular aortic stenosis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Analysis of genes and chromosomes by nonisotopic in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Possible assignment of the glyoxalase I (GLO) gene to chromosome 6 using man-mouse somatic cell hybrids

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Good genes in bad neighbourhoods.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Chromatin structure and gene expression

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

GPR56, a novel secretin-like human G-protein-coupled receptor gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

TM7XN1, a novel human EGF-TM7-like cDNA, detected with mRNA differential display using human melanoma cell lines with different metastatic potential

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

21 January 2018

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

7 January 2021

based on heuristic

inferred from DOI database lookup

The Williams syndrome cognitive profile

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

7 January 2021

based on heuristic

inferred from DOI database lookup

De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

7 January 2021

based on heuristic

inferred from DOI database lookup

Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200812

7 January 2021

based on heuristic

inferred from DOI database lookup

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