(Q73531993)

English

De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome

scientific article published on 01 February 2000

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

supravalvular aortic stenosis

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based on heuristic

inferred from title

author name string

P von Dadelszen

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

D Chitayat

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

E J Winsor

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

H Cohen

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C MacDonald

5

1 reference

Europe PubMed Central

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4 November 2019

G Taylor

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

T Rose

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

L K Hornberger

8

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 February 2000

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

90

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4 November 2019

4

1 reference

Europe PubMed Central

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4 November 2019

270-275

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Imparied calcitonin secretion in patients with Williams syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

The Williams elfin facies syndrome. A new perspective

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

On the trail of genetic culprits in Williams syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Prognosis of supravalve aortic stenosis in 81 patients in Liverpool (1960-1993).

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Natural history of Williams syndrome: physical characteristics

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Renal findings in 40 individuals with Williams syndrome.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Generalized arterial fibromuscular dysplasia and myocardial infarction in familial supravalvular aortic stenosis syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Supravalvular aortic stenosis.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000214%2990%3A4%3C270%3A%3AAID-AJMG2%3E3.0.CO%3B2-R

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(20000214)90:4<270::AID-AJMG2>3.0.CO;2-R

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10710222%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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