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 |
|---|
| 2002 | 0 | 1 | 1 |
| 2003 | 2 | 1 | 3 |
| 2004 | 3 | 3 | 6 |
| 2005 | 2 | 1 | 3 |
| 2006 | 6 | 3 | 9 |
| 2007 | 6 | 0 | 6 |
| 2008 | 2 | 2 | 4 |
| 2009 | 5 | 0 | 5 |
| 2010 | 2 | 6 | 8 |
| 2011 | 10 | 3 | 13 |
| 2012 | 10 | 5 | 15 |
| 2013 | 9 | 2 | 11 |
| 2014 | 11 | 2 | 13 |
| 2015 | 12 | 1 | 13 |
| 2016 | 9 | 1 | 10 |
| 2017 | 12 | 2 | 14 |
| 2018 | 13 | 2 | 15 |
| 2019 | 11 | 0 | 11 |
| 2020 | 8 | 2 | 10 |
| 2021 | 12 | 1 | 13 |
| 2022 | 1 | 1 | 2 |
Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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Hedgehog pathway modulation by glypican 3-conjugated heparan sulfate. J Cell Sci. 2022 Mar 15; 135(6).
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Case 2-2022: A 70-Year-Old Man with a Recurrent Left Pleural Effusion. N Engl J Med. 2022 Jan 20; 386(3):274-283.
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Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2022 01 01; 97(1):18-29.
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X-Linked Dystonia-Parkinsonism ("Lubag") May Present with Peripheral Synucleinopathy. Mov Disord. 2022 01; 37(1):130-136.
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A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia. Pediatr Blood Cancer. 2022 01; 69(1):e29309.
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Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism. Parkinsonism Relat Disord. 2021 08; 89:105-110.
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Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. Nat Commun. 2021 05 28; 12(1):3216.
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A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome. Ophthalmic Genet. 2021 10; 42(5):612-614.
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A combination of cyclophosphamide and interleukin-2 allows CD4+ T cells converted to Tregs to control scurfy syndrome. Blood. 2021 04 29; 137(17):2326-2336.
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Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management. J Allergy Clin Immunol. 2022 01; 149(1):327-339.