Williams syndrome (Q33673673)

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scientific article

Language	Label	Description	Also known as
English	Williams syndrome	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

Williams syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 October 1986

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

23

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

389-395

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Severe infantile hypercalcaemia with special reference to the facies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

21 June 2018

Idiopathic infantile hypercalcaemia--a continuing enigma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

21 June 2018

Developmental delays in williams (“Elfin Facies”) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

21 June 2018

The relationship between vitamin D and the craniofacial and dental anomalies of the supravalvular aortic stenosis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

21 June 2018

A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

21 June 2018

Possible Dominant Inheritance of the Idiopathic Hypercalcemic Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

21 June 2018

The Williams elfin facies syndrome. A new perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

21 June 2018

Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

21 June 2018

Familial occurrence of the Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

21 June 2018

Further observation on the syndrome of idiopathic infantile hypercalcemia associated with supravalvular aortic stenosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

21 June 2018

INFANTILE HYPERCALCAEMIA, NUTRITIONAL RICKETS, AND INFANTILE SCURVY IN GREAT BRITAIN. A BRITISH PAEDIATRIC ASSOCIATION REPORT.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

30 October 2018

Supravalvular aortic stenosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

30 October 2018

Supravalvular aortic and peripheral pulmonary arterial stenoses. A report of eight cases in two generations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

30 October 2018

Infantile hypercalcemia syndrome in twins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

30 October 2018

Oral calcium-loading test in infancy, with particular reference to idiopathic hypercalcaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

30 October 2018

Familial supravalvular aortic stenosis. Comments on the mechanisms of angina pectoris

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

30 October 2018

Imparied calcitonin secretion in patients with Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

30 October 2018

Vitamin-D-binding protein in the Williams syndrome and idiopathic hypercalcemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049773

30 October 2018

Impaired calcium homeostasis in the infantile hypercalcemic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular pathology in the elfin face syndrome (the Fanconi-Schlesinger type of idiopathic hypercalcaemia of infancy). Histochemical and ultrastructural study of a case

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial supravalvular aortic stenosis. Report of a large family and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Supravalvular aortic stenosis with parafollicular cell (C-cell) hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial supravalvular aortic stenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normal intrauterine development of the fetus of a woman receiving extraordinarily high doses of 1,25-dihydroxyvitamin D3

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial Williams syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[The spectrum of supravalvular aortic stenosis: clinical findings of 150 patients with Williams-Beuren syndrome and the isolated lesion (author's transl)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families (author's transl)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal regulation of circulating 25-hydroxyvitamin D in the Williams syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The elfin face syndrome and the short arm of chromosome 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Williams syndrome: objective definition and diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the polymorphic human calcitonin gene on chromosome 11

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Supravalvular aortic stenosis. Clinical and pathologic observations in six patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital aortic stenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital supravalvular aortic stenosis. A morphological study with attempt at classification

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ASSOCIATION BETWEEN AORTIC STENOSIS AND FACIES OF SEVERE INFANTILE HYPERCALCAEMIA

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FAMILIAL SUPRAVALVULAR AORTIC STENOSIS

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CHROMOSOME STUDIES IN PATIENTS WITH SUPRAVALVULAR AORTIC STENOSIS

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Idiopathic hypercalcaemia of infancy. The elfin face syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3537294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.23.5.389

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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