"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 | 6 | 0 | 6 |
| 2015 | 5 | 0 | 5 |
| 2016 | 6 | 1 | 7 |
| 2017 | 7 | 0 | 7 |
| 2018 | 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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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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Delayed Maturation of Fast-Spiking Interneurons Is Rectified by Activation of the TrkB Receptor in the Mouse Model of Fragile X Syndrome. J Neurosci. 2017 11 22; 37(47):11298-11310.
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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.
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The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary. Pediatrics. 2017 06; 139(Suppl 3):S147-S152.
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FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Pediatrics. 2017 Jun; 139(Suppl 3):S183-S193.
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Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. Pediatrics. 2017 Jun; 139(Suppl 3):S194-S206.
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Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017 Jun; 139(Suppl 3):S216-S225.
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A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings. Clin Epigenetics. 2016; 8:130.