"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 |
|---|
| 1996 | 5 | 1 | 6 |
| 1997 | 1 | 0 | 1 |
| 1998 | 1 | 1 | 2 |
| 1999 | 1 | 0 | 1 |
| 2000 | 2 | 1 | 3 |
| 2002 | 5 | 1 | 6 |
| 2003 | 2 | 1 | 3 |
| 2004 | 2 | 0 | 2 |
| 2005 | 2 | 3 | 5 |
| 2006 | 2 | 0 | 2 |
| 2007 | 3 | 1 | 4 |
| 2008 | 4 | 2 | 6 |
| 2009 | 4 | 0 | 4 |
| 2011 | 5 | 1 | 6 |
| 2012 | 3 | 2 | 5 |
| 2013 | 2 | 1 | 3 |
| 2014 | 3 | 1 | 4 |
| 2015 | 1 | 2 | 3 |
| 2016 | 4 | 0 | 4 |
| 2017 | 6 | 0 | 6 |
| 2019 | 3 | 0 | 3 |
| 2020 | 5 | 0 | 5 |
| 2021 | 5 | 0 | 5 |
| 2022 | 5 | 0 | 5 |
| 2023 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
| 2025 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.
-
The Aberrant Behavior Checklist for Fragile X Syndrome: A Qualitative Clinician Evaluation of Content Validity. J Child Adolesc Psychopharmacol. 2025 09; 35(7):399-415.
-
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome. J Autism Dev Disord. 2024 Feb; 54(2):725-737.
-
Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model. Hum Mol Genet. 2021 05 29; 30(10):923-938.
-
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. 2017 12; 19(12).
-
CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome. Hum Mol Genet. 2014 Nov 15; 23(22):5906-15.
-
Therapeutic challenges in treating patients with fragile X syndrome and neoplasia. Pediatr Blood Cancer. 2013 Dec; 60(12):E153-6.
-
FXR1P but not FMRP regulates the levels of mammalian brain-specific microRNA-9 and microRNA-124. J Neurosci. 2011 Sep 28; 31(39):13705-9.
-
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med. 2011 May; 17(5):559-65.
-
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. Exp Cell Res. 2007 Jan 15; 313(2):244-53.
-
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis. 2006 Mar; 21(3):549-55.