Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome (Q52223418)

27 April 2018

http://europepmc.org/abstract/MED/7693128

title

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome (English)

1 reference

https://api.crossref.org/works/10.1038/NG0993-11

25 August 2024

main subject

developmental disorder

1 reference

2

Morris CA

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Patricia A. Spallone

6

object named as

Spallone P

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A. Dean Stock

7

object named as

Stock AD

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author name string

A. K. Ewart

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7693128

25 August 2024

D. Atkinson

3

1 reference

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25 August 2024

W. Jin

4

1 reference

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25 August 2024

K. Sternes

5

1 reference

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25 August 2024

P. Spallone

6

1 reference

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25 August 2024

M. Leppert

8

1 reference

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25 August 2024

M. T. Keating

9

1 reference

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25 August 2024

language of work or name

English

0 references

publication date

1 September 1993

1 reference

27 April 2018

http://europepmc.org/abstract/MED/7693128

full work available at URL

http://www.nature.com/articles/ng0993-11

1 reference

https://api.crossref.org/works/10.1038/NG0993-11

http://www.nature.com/articles/ng0993-11.pdf

25 August 2024

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/NG0993-11

25 August 2024

1 reference

27 April 2018

http://europepmc.org/abstract/MED/7693128

volume

5

1 reference

27 April 2018

http://europepmc.org/abstract/MED/7693128

issue

1

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27 April 2018

http://europepmc.org/abstract/MED/7693128

page(s)

11-16

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27 April 2018

http://europepmc.org/abstract/MED/7693128

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

Natural history of Williams syndrome: physical characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Williams syndrome: autosomal dominant inheritance

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

A to G polymorphism in ELN gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Molecular cloning, characterization, and genomic localization of a human potassium channel gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Chromosomal in situ suppression hybridization after Giemsa banding

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Detection of bcr-abl fusion in chronic myelogeneous leukemia by in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Twenty loci form a continuous linkage map of markers for human chromosome 2

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Allelotype of colorectal carcinomas

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Variable number of tandem repeat (VNTR) markers for human gene mapping

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

A mapped set of DNA markers for human chromosome 17.

1 reference

https://api.crossref.org/works/10.1038%2FNG0993-11

7 January 2021

Identifiers

DOI

10.1038/NG0993-11

1 reference

27 April 2018

http://europepmc.org/abstract/MED/7693128

1 reference

27 April 2018