Genetic Diseases, X-Linked
"Genetic Diseases, 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.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
| Descriptor ID |
D040181
|
| MeSH Number(s) |
C16.320.322
|
| Concept/Terms |
Genetic Diseases, X-Linked- Genetic Diseases, X-Linked
- Disease, X-Linked Genetic
- Diseases, X-Linked Genetic
- Genetic Disease, X-Linked
- Genetic Diseases, X Linked
- X-Linked Genetic Disease
- Genetic Diseases, X-Chromosome Linked
- Genetic Diseases, X Chromosome Linked
- X-Linked Genetic Diseases
- X Linked Genetic Diseases
|
Below are MeSH descriptors whose meaning is more general than "Genetic Diseases, X-Linked".
Below are MeSH descriptors whose meaning is more specific than "Genetic Diseases, X-Linked".
This graph shows the total number of publications written about "Genetic Diseases, X-Linked" by people in this website by year, and whether "Genetic Diseases, X-Linked" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 0 | 2 | 2 |
| 2004 | 0 | 1 | 1 |
| 2005 | 0 | 1 | 1 |
| 2006 | 3 | 0 | 3 |
| 2007 | 5 | 0 | 5 |
| 2008 | 2 | 0 | 2 |
| 2009 | 4 | 2 | 6 |
| 2010 | 2 | 1 | 3 |
| 2012 | 1 | 0 | 1 |
| 2013 | 4 | 2 | 6 |
| 2014 | 2 | 1 | 3 |
| 2015 | 3 | 0 | 3 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 1 | 2 |
| 2020 | 3 | 0 | 3 |
| 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 Jan; 197(1):e63868.
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Phenotypic features in MECP2 duplication syndrome: Effects of age. Am J Med Genet A. 2021 02; 185(2):362-369.
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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Clin Genet. 2020 08; 98(2):172-178.
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CRISPR-based gene editing enables FOXP3 gene repair in IPEX patient cells. Sci Adv. 2020 05; 6(19):eaaz0571.
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Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome. Dis Model Mech. 2020 03 30; 13(3).
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Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs. Dis Model Mech. 2020 01 13; 13(2).
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Juvenile parkinsonism: Differential diagnosis, genetics, and treatment. Parkinsonism Relat Disord. 2019 10; 67:74-89.
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Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019 05 02; 104(5):914-924.
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Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Mol Genet Genomic Med. 2019 02; 7(2):e00501.
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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. Genet Med. 2019 05; 21(5):1199-1208.