Mental Retardation, X-Linked
"Mental Retardation, X-Linked" 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 class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).
| Descriptor ID |
D038901
|
| MeSH Number(s) |
C10.597.606.643.455 C16.320.322.500 C16.320.400.525
|
| Concept/Terms |
Mental Retardation, X-Linked- Mental Retardation, X-Linked
- Mental Retardation, X Linked
- Retardation, X-Linked Mental
- X-Linked Mental Retardations
- X-Linked Mental Retardation Disorders
- X Linked Mental Retardation Disorders
- X-Linked Mental Retardation Syndromes
- X Linked Mental Retardation Syndromes
- X-Linked Mental Retardation
- X Linked Mental Retardation
|
Below are MeSH descriptors whose meaning is more general than "Mental Retardation, X-Linked".
Below are MeSH descriptors whose meaning is more specific than "Mental Retardation, X-Linked".
This graph shows the total number of publications written about "Mental Retardation, X-Linked" by people in this website by year, and whether "Mental Retardation, X-Linked" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 1 | 0 | 1 |
| 2010 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 2 | 1 | 3 |
| 2014 | 1 | 0 | 1 |
| 2015 | 2 | 0 | 2 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Mental Retardation, X-Linked" by people in Profiles.
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nat Commun. 2020 07 23; 11(1):3698.
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Identification and characterization of a missense mutation in the O-linked ?-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. J Biol Chem. 2017 05 26; 292(21):8948-8963.
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Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase. Int J Mol Sci. 2016 Jan 08; 17(1).
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Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease. Int J Mol Sci. 2015 Nov 13; 16(11):27270-87.
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Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies. J Child Neurol. 2015 Oct; 30(12):1664-8.
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Rational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approach. PLoS One. 2014; 9(10):e110884.
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A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet. 2013 Sep 15; 22(18):3789-97.
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Enhancing human spermine synthase activity by engineered mutations. PLoS Comput Biol. 2013; 9(2):e1002924.
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A rational free energy-based approach to understanding and targeting disease-causing missense mutations. J Am Med Inform Assoc. 2013 Jul-Aug; 20(4):643-51.
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Seizures and X-linked intellectual disability. Eur J Med Genet. 2012 May; 55(5):307-12.