(Q48070358)

English

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.

scientific article published in October 1995

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scholarly article

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. (English)

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

Francesca Amati

2

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

Giuseppe Novelli

7

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

Bruno Dallapiccola

8

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

author name string

A Mari

1

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

R Mingarelli

3

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

A Giannotti

4

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

G Sebastio

5

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

V Colloridi

6

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

publication date

1 October 1995

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

96

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

444-448

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

4

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

https://scigraph.springernature.com/pub.10.1007/bf00191804

0 references

Cerebrovascular stenoses with cerebral infarction in a child with Williams syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of apoB, HLADQ alpha, and D1S80 polymorphisms in the Italian population using the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Williams syndrome: objective definition and diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[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

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A to G polymorphism in ELN gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural history of Williams syndrome: physical characteristics

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: further elucidation of alternative splicing utilizing exon-specific oligonucleotides

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Williams syndrome: autosomal dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic approaches to the study of human cardiovascular disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Williams syndrome: evidence for possible autosomal dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and localization of a slow troponin (TnT) gene on chromosome 19 by subtraction hybridization of a cDNA muscle library using myotonic dystrophy muscle cDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphic DNA markers linked to cystic fibrosis locus in 20 Italian nuclear families

1 reference

https://pubmed.ncbi.nlm.nih.gov/7557968

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00191804

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7557968

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