(Q36228410)

12 August 2017

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

1 reference

supravalvular aortic stenosis

12 August 2017

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5

C Moore

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author name string

A K Ewart

1

1 reference

12 August 2017

C A Morris

2

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12 August 2017

G J Ensing

3

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12 August 2017

J Loker

4

1 reference

12 August 2017

M Leppert

6

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12 August 2017

M Keating

7

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12 August 2017

language of work or name

English

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publication date

1 April 1993

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Proceedings of the National Academy of Sciences of the United States of America

12 August 2017

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12 August 2017

90

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12 August 2017

8

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12 August 2017

3226-3230

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Syndromes associated with cardiac defects

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

Strategies for multilocus linkage analysis in humans

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

Familial supravalvular aortic stenosis: a genetic study.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

Isolation and mapping of a polymorphic DNA sequence (pTHH28) on chromosome 7p [D7S371]

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

Natural history of Williams syndrome: physical characteristics

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

A to G polymorphism in ELN gene

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

Molecular biology and pathology of human elastin

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

D7S448 detects a HindIII polymorphism located in the centromere region of chromosome 7.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

Linkage analysis and long QT syndrome. Using genetics to study cardiovascular disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46272

Supravalvular aortic stenosis. Clinical and pathologic observations in six patients

1 October 2017

1 reference

12 December 2020

Twenty-five loci form a continuous linkage map of markers for human chromosome 7

1 reference

12 December 2020

Adults with Williams syndrome

1 reference

12 December 2020

Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene

1 reference

12 December 2020

Pathology of atherosclerosis in Mexico

1 reference

12 December 2020

FAMILIAL SUPRAVALVULAR AORTIC STENOSIS

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12 December 2020

Natural hemodynamic history of congenital aortic stenosis in childhood

1 reference

12 December 2020

[The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families (author's transl)]

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.90.8.3226

1 reference

release_urqroz35j5h4poa3vswoql62oi

12 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/urqroz35j5h4poa3vswoql62oi

24 November 2022

mapped directly with Wikidata item

1 reference

12 August 2017

PubMed publication ID

8475063

1 reference