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 |
|---|
| 2003 | 2 | 0 | 2 |
| 2004 | 2 | 0 | 2 |
| 2005 | 2 | 0 | 2 |
| 2006 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2008 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 1 | 2 | 3 |
| 2012 | 2 | 0 | 2 |
| 2013 | 2 | 1 | 3 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
| 2021 | 1 | 1 | 2 |
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Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci. Nat Commun. 2021 09 06; 12(1):5253.
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Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations. Nat Immunol. 2021 05; 22(5):607-619.
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Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome. Pediatr Dev Pathol. 2019 Oct; 22(5):465-471.
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FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Diabetes. 2018 05; 19(3):388-392.
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[Regulatory effect of faciogenital dysplasia 6 gene on hepatic stem cell differentiation]. Zhonghua Gan Zang Bing Za Zhi. 2017 Apr 20; 25(4):268-272.
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Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3. J Pediatr Gastroenterol Nutr. 2016 11; 63(5):e119-e120.
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Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. Eur J Hum Genet. 2016 May; 24(5):681-9.
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Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A. 2014 Apr; 164A(4):1062-8.
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Index of suspicion. Case 1: abdominal pain, distension, hard stool, and diarrhea in an 11-year-old boy. Case 2: recurrent otitis media in a 4-year-old boy. Case 3: gynecomastia and galactorrhea in a 15-year-old boy. Pediatr Rev. 2013 Jul; 34(7):322-7.
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The role of 3-dimensional echocardiography in the diagnosis and management of mitral valve disease: myxomatous valve disease. Cardiol Clin. 2013 May; 31(2):203-15.