(Q39531643)

English

Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype

scientific article published on January 2000

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Europe PubMed Central

PubMed publication ID

12 September 2017

Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

author name string

Urbán Z

1

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

Peyrol S

2

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

Plauchu H

3

1 reference

Europe PubMed Central

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12 September 2017

Zabot MT

4

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

Lebwohl M

5

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

Schilling K

6

1 reference

Europe PubMed Central

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12 September 2017

Green M

7

1 reference

Europe PubMed Central

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12 September 2017

Boyd CD

8

1 reference

Europe PubMed Central

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12 September 2017

Csiszár K

9

1 reference

Europe PubMed Central

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12 September 2017

publication date

1 January 2000

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Europe PubMed Central

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12 September 2017

Pediatric Dermatology

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Europe PubMed Central

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12 September 2017

17

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Europe PubMed Central

PubMed publication ID

12 September 2017

1

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Europe PubMed Central

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12 September 2017

12-20

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Europe PubMed Central

PubMed publication ID

12 September 2017

Supravalvular aortic stenosis.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

LIM-kinase deleted in Williams syndrome.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Natural history of Williams syndrome: physical characteristics

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in Williams's syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

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/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Carotid ultrasound examination in Williams syndrome.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

A to G polymorphism in ELN gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

A second-generation linkage map of the human genome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Ultrastructural immunolocalization of elastic fibers in rat blood vessels using the protein A-gold technique

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Subepithelial fibrosis and degradation of the bronchial extracellular matrix in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Elastin is an essential determinant of arterial morphogenesis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

The histochemistry of chronically sun-damaged skin. An investigation of mucopolysaccharides and basophilia in actinically damaged skin using alcian blue, mowry's, and Hicks-Matthaei stains, methylation, and saponification.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Molecular basis of sun-induced premature skin ageing and retinoid antagonism.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Generalized arteriopathy in williams syndrome: An intravascular ultrasound study

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.2000.01703.X

21 January 2018

Identifiers

10.1046/J.1525-1470.2000.01703.X

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

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