 Fragile X Syndrome
"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
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| 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
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| 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
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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 |
|---|
| 1992 | 1 | 0 | 1 | | 1993 | 1 | 0 | 1 | | 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 | 3 | 0 | 3 | | 2019 | 5 | 0 | 5 |
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Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.
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Eckert EM, Dominick KC, Pedapati EV, Wink LK, Shaffer RC, Andrews H, Choo TH, Chen C, Kaufmann WE, Tartaglia N, Berry-Kravis EM, Erickson CA. Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis. J Autism Dev Disord. 2019 Nov; 49(11):4595-4602.
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Nayar K, McKinney W, Hogan AL, Martin GE, La Valle C, Sharp K, Berry-Kravis E, Norton ES, Gordon PC, Losh M. Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation. PLoS One. 2019; 14(7):e0219924.
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Gilbertson KE, Jackson HL, Dziuban EJ, Sherman SL, Berry-Kravis EM, Erickson CA, Valdez R. Preventive care services and health behaviors in children with fragile X syndrome. Disabil Health J. 2019 10; 12(4):564-573.
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Bowling H, Bhattacharya A, Zhang G, Alam D, Lebowitz JZ, Bohm-Levine N, Lin D, Singha P, Mamcarz M, Puckett R, Zhou L, Aryal S, Sharp K, Kirshenbaum K, Berry-Kravis E, Neubert TA, Klann E. Altered steady state and activity-dependent de novo protein expression in fragile X syndrome. Nat Commun. 2019 04 12; 10(1):1710.
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Hessl D, Harvey D, Sansone S, Crestodina C, Chin J, Joshi R, Hagerman RJ, Berry-Kravis E. Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome. PLoS One. 2019; 14(1):e0209984.
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Hagerman R, Jacquemont S, Berry-Kravis E, Des Portes V, Stanfield A, Koumaras B, Rosenkranz G, Murgia A, Wolf C, Apostol G, von Raison F. Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents. Sci Rep. 2018 11 19; 8(1):16970.
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O'Keefe JA, Robertson EE, Ouyang B, Carns D, McAsey A, Liu Y, Swanson M, Bernard B, Berry-Kravis E, Hall DA. Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome. Gait Posture. 2018 10; 66:288-293.
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Hall DA, Berry-Kravis E. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handb Clin Neurol. 2018; 147:377-391.
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Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S. 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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Nomura T, Musial TF, Marshall JJ, Zhu Y, Remmers CL, Xu J, Nicholson DA, Contractor A. 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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