 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
|
| 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 |
|---|
| 2010 | 1 | 1 | 2 | | 2011 | 3 | 0 | 3 | | 2013 | 2 | 1 | 3 | | 2014 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.
-
Weinstein V, Tanpaiboon P, Chapman KA, Ah Mew N, Hofherr S. Do the data really support ordering fragile X testing as a first-tier test without clinical features? Genet Med. 2017 12; 19(12):1317-1322.
-
Martin BS, Martinez-Botella G, Loya CM, Salituro FG, Robichaud AJ, Huntsman MM, Ackley MA, Doherty JJ, Corbin JG. Rescue of deficient amygdala tonic ?-aminobutyric acidergic currents in the Fmr-/y mouse model of fragile X syndrome by a novel ?-aminobutyric acid type A receptor-positive allosteric modulator. J Neurosci Res. 2016 Jun; 94(6):568-78.
-
Martin BS, Corbin JG, Huntsman MM. Deficient tonic GABAergic conductance and synaptic balance in the fragile X syndrome amygdala. J Neurophysiol. 2014 Aug 15; 112(4):890-902.
-
Kratovac S, Corbin JG. Developmental changes in expression of inhibitory neuronal proteins in the Fragile X Syndrome mouse basolateral amygdala. Brain Res. 2013 Nov 06; 1537:69-78.
-
Cheng Y, Corbin JG, Levy RJ. Programmed cell death is impaired in the developing brain of FMR1 mutants. Dev Neurosci. 2013; 35(4):347-58.
-
Vislay RL, Martin BS, Olmos-Serrano JL, Kratovac S, Nelson DL, Corbin JG, Huntsman MM. Homeostatic responses fail to correct defective amygdala inhibitory circuit maturation in fragile X syndrome. J Neurosci. 2013 Apr 24; 33(17):7548-58.
-
Olmos-Serrano JL, Corbin JG, Burns MP. The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome. Dev Neurosci. 2011; 33(5):395-403.
-
Olmos-Serrano JL, Corbin JG. Amygdala regulation of fear and emotionality in fragile X syndrome. Dev Neurosci. 2011; 33(5):365-78.
-
Paluszkiewicz SM, Olmos-Serrano JL, Corbin JG, Huntsman MM. Impaired inhibitory control of cortical synchronization in fragile X syndrome. J Neurophysiol. 2011 Nov; 106(5):2264-72.
-
Hersh JH, Saul RA. Health supervision for children with fragile X syndrome. Pediatrics. 2011 May; 127(5):994-1006.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|