Harvard Catalyst Profiles

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Fragile X Syndrome

"Fragile X 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.

MeSH information
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A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)


publications
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This graph shows the total number of publications written about "Fragile X Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Fragile X Syndrome" was a major or minor topic of these publication.
Bar chart showing 83 publications over 26 distinct years, with a maximum of 10 publications in 2010
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.