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.
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
- X-Linked Genetic Diseases
- X Linked Genetic Diseases
- Genetic Diseases, X-Chromosome Linked
- Genetic Diseases, X Chromosome Linked
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".
- Genetic Diseases, X-Linked
- Aicardi Syndrome
- Androgen-Insensitivity Syndrome
- Barth Syndrome
- Bulbo-Spinal Atrophy, X-Linked
- Choroideremia
- Dent Disease
- Dyskeratosis Congenita
- Ectodermal Dysplasia 1, Anhidrotic
- Fabry Disease
- Focal Dermal Hypoplasia
- Glycogen Storage Disease Type IIb
- Glycogen Storage Disease Type VIII
- Granulomatous Disease, Chronic
- Hemophilia B
- Hyper-IgM Immunodeficiency Syndrome, Type 1
- Hypophosphatemic Rickets, X-Linked Dominant
- Ichthyosis, X-Linked
- Isolated Noncompaction of the Ventricular Myocardium
- Mental Retardation, X-Linked
- Muscular Dystrophy, Duchenne
- Muscular Dystrophy, Emery-Dreifuss
- Oculocerebrorenal Syndrome
- Ornithine Carbamoyltransferase Deficiency Disease
- Pelizaeus-Merzbacher Disease
- Wiskott-Aldrich Syndrome
- X-Linked Combined Immunodeficiency Diseases
This graph shows the total number of publications written about "Genetic Diseases, X-Linked" by people in Harvard Catalyst Profiles by year, and whether "Genetic Diseases, X-Linked" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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2002 | 0 | 1 | 1 |
2003 | 2 | 1 | 3 |
2004 | 3 | 3 | 6 |
2005 | 2 | 1 | 3 |
2006 | 6 | 3 | 9 |
2007 | 7 | 0 | 7 |
2008 | 1 | 0 | 1 |
2009 | 3 | 0 | 3 |
2010 | 2 | 6 | 8 |
2011 | 8 | 3 | 11 |
2012 | 9 | 5 | 14 |
2013 | 7 | 2 | 9 |
2014 | 11 | 2 | 13 |
2015 | 11 | 1 | 12 |
2016 | 9 | 2 | 11 |
2017 | 11 | 2 | 13 |
2018 | 13 | 2 | 15 |
2019 | 12 | 0 | 12 |
2020 | 11 | 2 | 13 |
2021 | 14 | 2 | 16 |
2022 | 5 | 4 | 9 |
2023 | 4 | 0 | 4 |
2024 | 2 | 0 | 2 |
Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. Brain. 2024 Apr 04; 147(4):1553-1570.
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Oral diadochokinetic markers of X-linked dystonia-parkinsonism. Parkinsonism Relat Disord. 2024 Mar; 120:105991.
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Advanced cerebrospinal fluid flow MRI findings of aqueductal stenosis caused by web. J Clin Ultrasound. 2024 Feb; 52(2):201-207.
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Expanding IPEX: Inborn Errors of Regulatory T Cells. Rheum Dis Clin North Am. 2023 11; 49(4):825-840.
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Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria. Hepatology. 2024 Mar 01; 79(3):731-743.
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X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. Bone. 2023 07; 172:116763.
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CPHEN-016: Comprehensive phenotyping of human regulatory T cells. Cytometry A. 2022 12; 101(12):1006-1011.
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Early lysosome defects precede neurodegeneration with amyloid-ß and tau aggregation in NHE6-null rat brain. Brain. 2022 09 14; 145(9):3187-3202.
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Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons. Stem Cell Reports. 2022 09 13; 17(9):2111-2126.
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Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria. J Am Acad Dermatol. 2023 12; 89(6):1227-1237.