 Williams Syndrome
"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
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| MeSH Number(s) |
C10.597.606.643.970 C14.280.484.150.535.960 C16.131.260.970 C16.320.180.970
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| Concept/Terms |
Williams Syndrome- Williams Syndrome
- Syndrome, Williams
- Williams-Beuren Syndrome
- Syndrome, Williams-Beuren
- Williams Beuren Syndrome
- Elfin Facies Syndrome
- Elfin Facies Syndromes
- Syndrome, Elfin Facies
- Williams Contiguous Gene Syndrome
- Chromosome 7q11.23 Deletion Syndrome
- Contiguous Gene Syndrome, Williams
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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 UAMS Profiles by year, and whether "Williams Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2021 | 0 | 1 | 1 | | 2020 | 1 | 0 | 1 | | 2017 | 2 | 0 | 2 | | 2016 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2014 | 2 | 0 | 2 | | 2013 | 3 | 0 | 3 | | 2012 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2003 | 1 | 0 | 1 | | 2002 | 1 | 0 | 1 |
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Below are the most recent publications written about "Williams Syndrome" by people in Profiles over the past ten years.
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Gal DB, Lechich KM, Jensen HK, Millett PC, Bolin E, Daily J, Jack JT, Stephens S, Jensen MO, Collins RT. The Sinotubular Junction-to-Aortic Annulus Ratio as a Determinant of Supravalvar Aortic Stenosis Severity. Am J Cardiol. 2022 02 01; 164:118-122.
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Lechich KM, Zarate YA, Daily JA, Collins RT. Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls. Pediatr Cardiol. 2020 Aug; 41(6):1199-1205.
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Hills JA, Zarate YA, Danylchuk NR, Lepard T, Chen JC, Collins RT. Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use. Am J Med Genet A. 2017 May; 173(5):1194-1199.
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Collins Ii RT, Collins MG, Schmitz ML, Hamrick JT. Peri-procedural risk stratification and management of patients with Williams syndrome. Congenit Heart Dis. 2017 Mar; 12(2):133-142.
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Samanta D. Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. Acta Neurol Belg. 2017 03; 117(1):359-362.
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Khattak S, Brimble E, Zhang W, Zaslavsky K, Strong E, Ross PJ, Hendry J, Mital S, Salter MW, Osborne LR, Ellis J. Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome. Mol Brain. 2015 Nov 24; 8(1):77.
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