"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 | 1 | 0 | 1 |
| 1995 | 1 | 0 | 1 |
| 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 | 5 | 0 | 5 |
| 2009 | 6 | 0 | 6 |
| 2010 | 8 | 0 | 8 |
| 2011 | 9 | 0 | 9 |
| 2012 | 5 | 0 | 5 |
| 2013 | 7 | 0 | 7 |
| 2014 | 7 | 0 | 7 |
| 2015 | 5 | 0 | 5 |
| 2016 | 7 | 1 | 8 |
| 2017 | 9 | 0 | 9 |
| 2018 | 4 | 0 | 4 |
| 2019 | 9 | 1 | 10 |
| 2020 | 8 | 0 | 8 |
| 2021 | 9 | 1 | 10 |
| 2022 | 9 | 0 | 9 |
| 2023 | 6 | 0 | 6 |
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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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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. Cells. 2023 09 21; 12(18).
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Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP. Proc Natl Acad Sci U S A. 2023 07 04; 120(27):e2302534120.
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Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control. Exp Brain Res. 2023 Aug; 241(8):1975-1987.
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Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome. Am J Intellect Dev Disabil. 2023 05 01; 128(3):254-268.
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The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities. J Appl Res Intellect Disabil. 2023 Mar; 36(2):394-404.
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Lymphocytic Extracellular Signal-Regulated Kinase Dysregulation in Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry. 2023 05; 62(5):582-592.e2.
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Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability. Neurology. 2023 02 21; 100(8):e778-e789.
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A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX). J Neurodev Disord. 2022 11 25; 14(1):56.
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Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives. Genes (Basel). 2022 09 16; 13(9).
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Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome. Hum Mol Genet. 2022 07 21; 31(14):2317-2332.