Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene (Q34131820)

31 July 2017

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene (English)

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aortic valve morphogenesis

31 July 2017

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GOA release 2020-03-11

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supravalvular aortic stenosis

GOA release 2020-03-11

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4

C A Morris

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author name string

A K Ewart

1

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31 July 2017

W Jin

2

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31 July 2017

D Atkinson

3

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31 July 2017

M T Keating

5

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31 July 2017

language of work or name

English

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publication date

1 March 1994

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Journal of Clinical Investigation

31 July 2017

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31 July 2017

93

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31 July 2017

1071-1077

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31 July 2017

3

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

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

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

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Cosmid vectors for rapid genomic walking, restriction mapping, and gene transfer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Natural history of Williams syndrome: physical characteristics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

(Alpha)alpha 5.3: a novel alpha(+)-thalassemia deletion with the breakpoints in the alpha 2-globin gene and in close proximity to an Alu family repeat between the psi alpha 2- and psi alpha 1-globin genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Molecular biology and pathology of human elastin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Homozygous hereditary C3 deficiency due to a partial gene deletion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Detection of specific sequences among DNA fragments separated by gel electrophoresis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

DNA sequencing with chain-terminating inhibitors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294040

FAMILIAL SUPRAVALVULAR AORTIC STENOSIS

5 July 2018

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)]

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12 December 2020

Supravalvular aortic stenosis. Clinical and pathologic observations in six patients

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12 December 2020

Mechanics and composition of arterioles in brain stem and cerebrum

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12 December 2020

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

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12 December 2020

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7

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12 December 2020

Identifiers

DOI

10.1172/JCI117057

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31 July 2017

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31 July 2017

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