"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
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MeSH Number(s) |
C16.320.322
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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 |
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2012 | 1 | 1 | 2 |
2013 | 3 | 0 | 3 |
2016 | 2 | 0 | 2 |
2017 | 1 | 0 | 1 |
2021 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2? Eur J Med Genet. 2021 Jun; 64(6):104209.
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Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am J Med Genet A. 2017 Apr; 173(4):1102-1108.
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Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N Engl J Med. 2016 May 12; 374(19):1853-63.
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X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. Clin Dysmorphol. 2016 Apr; 25(2):73-6.
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A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. PLoS One. 2013; 8(10):e76414.
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Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356? mutation in synapsin I. PLoS One. 2013; 8(6):e67724.
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Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. Am J Med Genet A. 2013 Feb; 161A(2):295-300.
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X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. Hum Mol Genet. 2013 Mar 01; 22(5):941-51.
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A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL. Klin Padiatr. 2013 Jan; 225(1):29-33.