"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
|
| 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
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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 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 |
|---|
| 1996 | 1 | 0 | 1 |
| 1997 | 0 | 1 | 1 |
| 1998 | 1 | 0 | 1 |
| 2000 | 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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Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, Gonz?lez PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet. 2007 Feb; 44(2):136-43.
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Urb?n Z, Peyrol S, Plauchu H, Zabot MT, Lebwohl M, Schilling K, Green M, Boyd CD, Csisz?r K. Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype. Pediatr Dermatol. 2000 Jan-Feb; 17(1):12-20.
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Chang L, Ernst T, Berman N. Brain biochemistry in Williams syndrome: evidence for a role of the cerebellum in cognition? Neurology. 1999 Mar 10; 52(4):898-9.
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del Rio T, Urb?n Z, Csisz?r K, Boyd CD. A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome. Clin Genet. 1998 Aug; 54(2):129-35.
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Urb?n Z, Csisz?r K, Fekete G, Boyd CD. A tetranucleotide repeat polymorphism within the human elastin gene (ELNi1). Clin Genet. 1997 Feb; 51(2):133-4.
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Urb?n Z, Helms C, Fekete G, Csisz?r K, Bonnet D, Munnich A, Donis-Keller H, Boyd CD. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet. 1996 Oct; 59(4):958-62.