"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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 0 | 1 |
| 1998 | 1 | 0 | 1 |
| 2000 | 1 | 0 | 1 |
| 2002 | 2 | 0 | 2 |
| 2003 | 2 | 0 | 2 |
| 2004 | 3 | 0 | 3 |
| 2005 | 3 | 0 | 3 |
| 2006 | 2 | 0 | 2 |
| 2007 | 5 | 0 | 5 |
| 2008 | 4 | 0 | 4 |
| 2009 | 6 | 0 | 6 |
| 2010 | 6 | 0 | 6 |
| 2011 | 8 | 0 | 8 |
| 2012 | 5 | 0 | 5 |
| 2013 | 7 | 0 | 7 |
| 2014 | 7 | 0 | 7 |
| 2015 | 5 | 0 | 5 |
| 2016 | 6 | 1 | 7 |
| 2017 | 7 | 0 | 7 |
| 2018 | 1 | 0 | 1 |
| 2019 | 0 | 1 | 1 |
| 2020 | 2 | 0 | 2 |
| 2022 | 2 | 0 | 2 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.
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Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation. Sensors (Basel). 2024 Apr 18; 24(8).
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Descriptive analysis of seizures and comorbidities associated with fragile X syndrome. Mol Genet Genomic Med. 2022 08; 10(8):e2001.
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Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study. Brain Cogn. 2022 06; 159:105851.
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Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity. J Neurodev Disord. 2020 03 24; 12(1):10.
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Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS). PLoS One. 2020; 15(2):e0225191.
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Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome. Brain Cogn. 2020 03; 139:105511.
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Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handb Clin Neurol. 2018; 147:377-391.
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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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Fragile X syndrome. Nat Rev Dis Primers. 2017 Sep 29; 3:17065.
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Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results. Neuropsychopharmacology. 2018 02; 43(3):503-512.