(Q35644206)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

E Nickerson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

F Greenberg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

M T Keating

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

C McCaskill

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

L G Shaffer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

language of work or name

English

0 references

publication date

1 May 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

24 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

page(s)

1156-1161

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

24 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Molecular characterization of de novo secondary trisomy 13.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Microdeletion syndromes, balanced translocations, and gene mapping

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Contiguous gene syndromes: a component of recognizable syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Familial supravalvular aortic stenosis: a genetic study.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in Williams's syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Structure of the elastin gene and alternative splicing of elastin mRNA: implications for human disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Natural history of Williams syndrome: physical characteristics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Myocardial infarction leading to sudden death in the Williams syndrome: report of three cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Human elastin gene: new evidence for localization to the long arm of chromosome 7.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Molecular biology and pathology of human elastin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801441

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

25 September 2018

1 reference

12 December 2020

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7

1 reference

12 December 2020

Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP

1 reference

12 December 2020

Williams syndrome: autosomal dominant inheritance

1 reference

12 December 2020

Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.

1 reference

12 December 2020

Chromosome abnormalities and Williams syndrome

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726172%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference