"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.
- 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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Below are the most recent publications written about "Williams Syndrome" by people in Profiles.
Paradoxical Cerebral Air Embolism after Cardiac Ablation in Williams-Beuren Syndrome: A Clinico-Pathological Correlation. J Stroke Cerebrovasc Dis. 2022 Apr; 31(4):106317.
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biol Psychiatry. 2014 Mar 01; 75(5):371-7.
Midterm outcomes in supravalvular aortic stenosis demonstrate the superiority of multisinus aortoplasty. Ann Thorac Surg. 2010 May; 89(5):1371-7.
Reduced parietal and visual cortical activation during global processing in Williams syndrome. Dev Med Child Neurol. 2007 Jun; 49(6):433-8.
Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am J Hum Genet. 2007 Jul; 81(1):77-86.
Frontostriatal dysfunction during response inhibition in Williams syndrome. Biol Psychiatry. 2007 Aug 01; 62(3):256-61.
The neurobiology of Williams syndrome: cascading influences of visual system impairment? Cell Mol Life Sci. 2006 Aug; 63(16):1867-75.
Anomalous sylvian fissure morphology in Williams syndrome. Neuroimage. 2006 Oct 15; 33(1):39-45.
To modulate or not to modulate: differing results in uniquely shaped Williams syndrome brains. Neuroimage. 2006 Sep; 32(3):1001-7.
Abnormal cortical complexity and thickness profiles mapped in Williams syndrome. J Neurosci. 2005 Apr 20; 25(16):4146-58.