"Williams Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
| Descriptor ID |
D018980
|
| MeSH Number(s) |
C10.597.606.643.970 C14.280.484.150.535.960 C16.131.260.970 C16.320.180.970
|
| Concept/Terms |
Williams Syndrome- Williams Syndrome
- Syndrome, Williams
- Contiguous Gene Syndrome, Williams
- Supravalvar Aortic Stenosis Syndrome
- Williams-Beuren Syndrome
- Syndrome, Williams-Beuren
- Williams Beuren Syndrome
- Beuren Syndrome
- Syndrome, Beuren
- Hypercalcemia-Supravalvar Aortic Stenosis
- Aortic Stenoses, Hypercalcemia-Supravalvar
- Aortic Stenosis, Hypercalcemia-Supravalvar
- Hypercalcemia Supravalvar Aortic Stenosis
- Hypercalcemia-Supravalvar Aortic Stenoses
- Stenoses, Hypercalcemia-Supravalvar Aortic
- Stenosis, Hypercalcemia-Supravalvar Aortic
- Chromosome 7q11.23 Deletion Syndrome
- Williams Contiguous Gene Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Williams Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Williams Syndrome".
This graph shows the total number of publications written about "Williams Syndrome" by people in this website by year, and whether "Williams Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2002 | 0 | 2 | 2 |
| 2004 | 2 | 0 | 2 |
| 2006 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2008 | 0 | 1 | 1 |
| 2009 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 2 | 1 | 3 |
| 2013 | 1 | 0 | 1 |
| 2015 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 2 | 0 | 2 |
| 2020 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Williams Syndrome" by people in Profiles.
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Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome. J Am Heart Assoc. 2024 Apr 16; 13(8):e034048.
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Bilateral Congenital Nasolacrimal Duct Obstruction in Williams-Beuren Syndrome. Ophthalmic Plast Reconstr Surg. 2023 May-Jun 01; 39(3):e87-e89.
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A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Clin Genet. 2020 06; 97(6):940-942.
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A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells. Sci Data. 2019 11 06; 6(1):262.
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Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Mol Genet Genomic Med. 2019 03; 7(3):e549.
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An estimation of the prevalence of genomic disorders using chromosomal microarray data. J Hum Genet. 2018 Jul; 63(7):795-801.
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A Common Polymorphism in a Williams Syndrome Gene Predicts Amygdala Reactivity and Extraversion in Healthy Adults. Biol Psychiatry. 2017 02 01; 81(3):203-210.
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Malassezia Pneumonia: A Rare Complication of Parenteral Nutrition Therapy. JPEN J Parenter Enteral Nutr. 2016 11; 40(8):1194-1196.
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Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. Clin Genet. 2014 Nov; 86(5):487-91.
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Modeling supravalvular aortic stenosis syndrome with human induced pluripotent stem cells. Circulation. 2012 Oct 02; 126(14):1695-704.