"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 |
|---|
| 1994 | 10 | 0 | 10 |
| 1995 | 6 | 0 | 6 |
| 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 | 5 | 0 | 5 |
| 2010 | 1 | 0 | 1 |
| 2011 | 7 | 1 | 8 |
| 2012 | 5 | 2 | 7 |
| 2013 | 3 | 1 | 4 |
| 2014 | 3 | 1 | 4 |
| 2015 | 1 | 2 | 3 |
| 2016 | 2 | 0 | 2 |
| 2017 | 4 | 0 | 4 |
| 2018 | 1 | 0 | 1 |
| 2019 | 2 | 0 | 2 |
| 2020 | 4 | 0 | 4 |
| 2021 | 5 | 0 | 5 |
| 2022 | 5 | 0 | 5 |
| 2023 | 1 | 0 | 1 |
| 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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Calcium-Dependent Regulation of Neuronal Excitability Is Rescued in Fragile X Syndrome by a Tat-Conjugated N-Terminal Fragment of FMRP. J Neurosci. 2024 May 22; 44(21).
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Excitatory neuron-specific suppression of the integrated stress response contributes to autism-related phenotypes in fragile X syndrome. Neuron. 2023 10 04; 111(19):3028-3040.e6.
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The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI). J Assist Reprod Genet. 2023 Jan; 40(1):179-190.
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Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome. J Autism Dev Disord. 2024 Feb; 54(2):725-737.
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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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Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome. Proc Natl Acad Sci U S A. 2022 05 31; 119(22):e2118124119.
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Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions. Nat Rev Neurol. 2022 03; 18(3):145-157.
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Functional consequences of postnatal interventions in a mouse model of Fragile X syndrome. Neurobiol Dis. 2022 01; 162:105577.
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Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR. J Mol Diagn. 2021 08; 23(8):941-951.
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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.