(Q55224066)

27 June 2018

title

Skin findings in Williams syndrome. (English)

1 reference

27 June 2018

author name string

Beth A Kozel

1

1 reference

27 June 2018

Susan J Bayliss

2

1 reference

27 June 2018

David R Berk

3

1 reference

27 June 2018

Jessica L Waxler

4

1 reference

27 June 2018

Russell H Knutsen

5

1 reference

27 June 2018

Joshua R Danback

6

1 reference

27 June 2018

Barbara R Pober

7

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27 June 2018

language of work or name

English

0 references

publication date

11 June 2014

1 reference

27 June 2018

American Journal of Medical Genetics

published in

1 reference

27 June 2018

volume

164A

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27 June 2018

page(s)

2217-2225

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27 June 2018

issue

9

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27 June 2018

Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Contribution of tight junction proteins to ion, macromolecule, and water barrier in keratinocytes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

The biomechanical properties of the skin

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Diverticulitis in a child with Williams syndrome: a case report and review of the literature

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Metabolic cutis laxa syndromes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Clinical practice. The care of children with Down syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Longitudinal course of anxiety in children and adolescents with Williams syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Williams-Beuren syndrome.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Mechanisms of hair graying: incomplete melanocyte stem cell maintenance in the niche

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Elastin: mutational spectrum in supravalvular aortic stenosis.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Skin elastic fibers in Williams syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Natural history of Williams syndrome: physical characteristics

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Cardiovascular complications of cutis laxa syndrome: successful diagnosis and surgical management.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Voiding dysfunction and the Williams-Beuren syndrome: a clinical and urodynamic investigation.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Increased prevalence of urinary symptoms and voiding dysfunction in Williams syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4134746

Biomechanical properties of the skin in cutis laxa

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36628

Rate of Greying of Human Hair

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36628

Sigmoid diverticulitis in patients with Williams-Beuren syndrome: relatively high prevalence and high complication rate in young adults with the syndrome

21 January 2018

1 reference

12 December 2020

The degree of premature hair graying as an independent risk marker for coronary artery disease: a predictor of biological age rather than chronological age

1 reference

12 December 2020

Premature hair whitening is an independent predictor of carotid intima-media thickness in young and middle-aged men

1 reference

12 December 2020

Altered claudin expression is a feature of chronic plaque psoriasis

1 reference

12 December 2020

Pulmonary function and emphysema in Williams-Beuren syndrome

1 reference

12 December 2020

Smoker's wrinkles. A study in the epidemiology of "crow's feet"

1 reference

12 December 2020

Facial wrinkling in men and women, by smoking status

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.36628

1 reference

27 June 2018

PMCID

4134746

1 reference

27 June 2018

PubMed ID

24920525

1 reference

27 June 2018