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 |
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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 | 4 | 0 | 4 | 2019 | 9 | 1 | 10 | 2020 | 8 | 0 | 8 | 2021 | 9 | 1 | 10 | 2022 | 3 | 0 | 3 |
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Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.
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Maltman N, Klusek J, DaWalt L, Hong J, Sterling A, Berry-Kravis E, Mailick MR. Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study. Brain Cogn. 2022 06; 159:105851.
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Berry-Kravis E. Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies. Am J Intellect Dev Disabil. 2022 03 01; 127(2):90-94.
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Auger E, Berry-Kravis EM, Ethridge LE. Independent evaluation of the harvard automated processing pipeline for Electroencephalography 1.0 using multi-site EEG data from children with Fragile X Syndrome. J Neurosci Methods. 2022 04 01; 371:109501.
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Budimirovic DB, Protic DD, Delahunty CM, Andrews HF, Choo TH, Xu Q, Berry-Kravis E, Kaufmann WE. Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort. Am J Med Genet A. 2022 04; 188(4):1029-1039.
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Meng L, Kaufmann WE, Frye RE, Ong K, Kaminski JW, Velinov M, Berry-Kravis E. The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome. Am J Med Genet A. 2022 03; 188(3):858-866.
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Hall DA, Leehey MA, Hagerman RJ, Pelak VS. Eye Movements in Fragile X-Associated Tremor/Ataxia Syndrome. J Neuroophthalmol. 2021 12 01; 41(4):e661-e664.
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Dominick KC, Andrews HF, Kaufmann WE, Berry-Kravis E, Erickson CA. Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome. J Child Adolesc Psychopharmacol. 2021 12; 31(10):659-669.
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Mailick MR, Hong J, Movaghar A, DaWalt L, Berry-Kravis EM, Brilliant MH, Boero J, Todd PK, Hall D. Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort. Mov Disord. 2021 10; 36(10):2378-2386.
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Abbasi DA, Nguyen TTA, Hall DA, Robertson-Dick E, Berry-Kravis E, Cologna SM. Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum. 2022 Feb; 21(1):86-98.
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Hong J, Kapoor A, DaWalt LS, Maltman N, Kim B, Berry-Kravis EM, Almeida D, Coe C, Mailick M. Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome. Psychoneuroendocrinology. 2021 07; 129:105266.
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