(Q24599604)

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Williams-Beuren syndrome.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Sleep patterns and daytime sleepiness in adolescents and young adults with Williams syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

The genomic basis of the Williams-Beuren syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Congenital supravalvular aortic stenosis and sudden death associated with anesthesia: what's the mystery?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Emerging themes and new challenges in defining the role of structural variation in human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Prevalence estimation of Williams syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Differences by sex in cardiovascular disease in Williams syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Natural history of Williams syndrome: physical characteristics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Mutational mechanisms of Williams-Beuren syndrome deletions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

The Williams elfin facies syndrome. A new perspective

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30266

Supravalvular aortic stenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30266

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

Evolution of neurologic features in Williams syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

MENTAL RETARDATION RELATED TO HYPERCALCAEMIA.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION AND SIMILAR FACIAL APPEARANCE.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

OBSERVATIONS CONCERNING THE EVOLUTION OF THE CHRONIC FORM OF IDIOPATHIC HYPERCALCAEMIA IN CHILDREN

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946897

The Williams syndrome cognitive profile

28 November 2018

1 reference

12 December 2020

Two pregnancies in a woman with Williams syndrome

1 reference

12 December 2020

Vitamin D and the supravalvar aortic stenosis syndrome. The transplacental effects of vitamin D on the aorta of the rabbit

1 reference

12 December 2020

Adults with Williams syndrome

1 reference

12 December 2020

Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene

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

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

1 reference

12 December 2020

[Chronic hyperglycemia, combined with osteosclerosis, hyperazotemia, nanism and congenital malformations]

1 reference

12 December 2020

The pathogenesis of idiopathic hypercalcemia in infancy

1 reference

12 December 2020

ASSOCIATION BETWEEN AORTIC STENOSIS AND FACIES OF SEVERE INFANTILE HYPERCALCAEMIA

1 reference

12 December 2020

IDIOPATHIC HYPERCALCEMIA AND SUPRAVALVULAR AORTIC STENOSIS. DOCUMENTATION OF A NEW SYNDROME

1 reference

12 December 2020

FAMILIAL SUPRAVALVULAR AORTIC STENOSIS

1 reference

12 December 2020

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

1 reference

12 December 2020

Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30266

7 January 2021

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30266

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/AJMG.C.30266

1 reference

1 reference

1 reference

PubMed publication ID

20425781

1 reference