(Q83050002)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Pulmonary function and emphysema in Williams-Beuren syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

main subject

Williams-Beuren syndrome

1 reference

1 reference

Emily S Wan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Barbara R Pober

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

George R Washko

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Benjamin A Raby

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Edwin K Silverman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

publication date

1 March 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

18 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

152A

1 reference

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18 January 2020

page(s)

653-656

1 reference

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18 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

Prevalence estimation of Williams syndrome

18 January 2020

cites work

1 reference

12 December 2020

Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome

1 reference

12 December 2020

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa

1 reference

12 December 2020

Distribution of mechanical stress in the lung, a possible factor in localisation of pulmonary disease

1 reference

12 December 2020

The senile lung. Comparison with normal and emphysematous lungs. 1. Structural aspects

1 reference

12 December 2020

The senile lung. Comparison with normal and emphysematous lungs. 2. Functional aspects

1 reference

12 December 2020

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

1 reference

12 December 2020

The Williams syndrome: evidence for possible autosomal dominant inheritance

1 reference

12 December 2020

Williams syndrome: autosomal dominant inheritance

1 reference

12 December 2020

Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

1 reference

12 December 2020

Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis.

1 reference

12 December 2020

Rate of FEV1 change following lung volume reduction surgery

1 reference

12 December 2020

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

1 reference

12 December 2020

Spirometric reference values from a sample of the general U.S. population

1 reference

12 December 2020

Multisystem study of 20 older adults with Williams syndrome.

1 reference

12 December 2020

Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

1 reference

12 December 2020

Standardisation of spirometry

1 reference

12 December 2020

A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease

1 reference

12 December 2020

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

1 reference

12 December 2020

The stumbling block in lung repair of emphysema: elastic fiber assembly

1 reference

12 December 2020

Elastin protein levels are a vital modifier affecting normal lung development and susceptibility to emphysema

1 reference

12 December 2020

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.

1 reference

12 December 2020

CT quantification of emphysema in young subjects with no recognizable chest disease

1 reference

12 December 2020

Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease

1 reference

12 December 2020

Impaired distal airway development in mice lacking elastin.

1 reference

12 December 2020

On the progressive nature of emphysema: roles of proteases, inflammation, and mechanical forces

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33300

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186780%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference