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 | 4 | 1 | 5 |
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Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.
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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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Berry-Kravis EM, Harnett MD, Reines SA, Reese MA, Ethridge LE, Outterson AH, Michalak C, Furman J, Gurney ME. Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial. Nat Med. 2021 05; 27(5):862-870.
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Raj N, McEachin ZT, Harousseau W, Zhou Y, Zhang F, Merritt-Garza ME, Taliaferro JM, Kalinowska M, Marro SG, Hales CM, Berry-Kravis E, Wolf-Ochoa MW, Martinez-CerdeƱo V, Wernig M, Chen L, Klann E, Warren ST, Jin P, Wen Z, Bassell GJ. Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis. Cell Rep. 2021 04 13; 35(2):108991.
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Berry-Kravis E, Zhou L, Jackson J, Tassone F. Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders. Expert Rev Mol Diagn. 2021 03; 21(3):255-267.
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Ethridge L, Thaliath A, Kraff J, Nijhawan K, Berry-Kravis E. Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers. Am J Intellect Dev Disabil. 2020 11 01; 125(6):449-464.
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O'Keefe JA, Guan J, Robertson E, Biskis A, Joyce J, Ouyang B, Liu Y, Carnes D, Purcell N, Berry-Kravis E, Hall DA. The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS. Cerebellum. 2021 Apr; 20(2):212-221.
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Westmark CJ, Kniss C, Sampene E, Wang A, Milunovich A, Elver K, Hessl D, Talboy A, Picker J, Haas-Givler B, Esler A, Gropman AL, Uy R, Erickson C, Velinov M, Tartaglia N, Berry-Kravis EM. Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome. Nutrients. 2020 Oct 14; 12(10).
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Kidd SA, Berry-Kravis E, Choo TH, Chen C, Esler A, Hoffmann A, Andrews HF, Kaufmann WE. Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord. 2020 Sep; 50(9):3276-3295.
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Hall DA, Nag S, Ouyang B, Bennett DA, Liu Y, Ali A, Zhou L, Berry-Kravis E. Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death. Mov Disord. 2020 08; 35(8):1448-1456.
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