"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.
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)
| Descriptor ID |
D005600
|
| MeSH Number(s) |
C10.597.606.643.455.500 C16.131.260.830.300 C16.320.180.830.300 C16.320.322.500.500 C16.320.400.525.500
|
| Concept/Terms |
Fragile X Syndrome- Fragile X Syndrome
- Fragile X Syndromes
- Syndrome, Fragile X
- Syndromes, Fragile X
- Fragile X Mental Retardation Syndrome
- X-Linked Mental Retardation and Macroorchidism
- X Linked Mental Retardation and Macroorchidism
- Martin-Bell Syndrome
- Martin Bell Syndrome
- Syndrome, Martin-Bell
- Mental Retardation, X-Linked, Associated With Marxq28
- Fra(X) Syndrome
- Marker X Syndrome
- Marker X Syndromes
- Syndrome, Marker X
- Syndromes, Marker X
FRAXE Syndrome- FRAXE Syndrome
- FRAXE Syndromes
- Syndrome, FRAXE
- Syndromes, FRAXE
- Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
- Fragile X-F Mental Retardation Syndrome
- Mar (X) Syndrome
FRAXA Syndrome- FRAXA Syndrome
- FRAXA Syndromes
- Syndrome, FRAXA
- Syndromes, FRAXA
|
Below are MeSH descriptors whose meaning is more general than "Fragile X Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Fragile X Syndrome".
This graph shows the total number of publications written about "Fragile X Syndrome" by people in this website by year, and whether "Fragile X Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 0 | 1 | 1 |
| 2006 | 0 | 2 | 2 |
| 2008 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2012 | 2 | 0 | 2 |
| 2013 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2019 | 0 | 1 | 1 |
| 2021 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.
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FMRP phosphorylation modulates neuronal translation through YTHDF1. Mol Cell. 2023 Dec 07; 83(23):4304-4317.e8.
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Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes. Genes (Basel). 2021 10 22; 12(11).
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The RNA-binding protein FMRP facilitates the nuclear export of N6-methyladenosine-containing mRNAs. J Biol Chem. 2019 12 27; 294(52):19889-19895.
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Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome. Nat Rev Drug Discov. 2018 04; 17(4):280-299.
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Ethical and policy issues in newborn screening of children for neurologic and developmental disorders. Pediatr Clin North Am. 2015 Jun; 62(3):787-98.
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Developmental and behavioral pediatricians' attitudes toward screening for fragile X. Am J Intellect Dev Disabil. 2013 Jul; 118(4):284-93.
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Development of an expressive language sampling procedure in fragile X syndrome: a pilot study. J Dev Behav Pediatr. 2013 May; 34(4):245-51.
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Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med. 2012 Sep 19; 4(152):152ra127.
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Treatment of fragile X-associated tremor/ataxia syndrome with unilateral deep brain stimulation. Mov Disord. 2012 May; 27(6):799-800.
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Fragile X screening: attitudes of genetic health professionals. Am J Med Genet A. 2009 Feb 15; 149A(4):626-32.