 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
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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
- X-Linked Genetic Diseases
- X Linked Genetic Diseases
- Genetic Diseases, X-Chromosome Linked
- Genetic Diseases, X Chromosome Linked
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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 | 2 | 4 | | 2004 | 4 | 3 | 7 | | 2005 | 2 | 2 | 4 | | 2006 | 7 | 4 | 11 | | 2007 | 8 | 1 | 9 | | 2008 | 2 | 1 | 3 | | 2009 | 5 | 0 | 5 | | 2010 | 2 | 4 | 6 | | 2011 | 8 | 3 | 11 | | 2012 | 10 | 5 | 15 | | 2013 | 8 | 2 | 10 | | 2014 | 14 | 2 | 16 | | 2015 | 10 | 1 | 11 | | 2016 | 9 | 1 | 10 | | 2017 | 5 | 1 | 6 |
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Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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Todorich B, Thanos A, Yonekawa Y, Capone A. Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome. Ophthalmic Surg Lasers Imaging Retina. 2017 Mar 01; 48(3):260-262.
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Brüggemann N, Rosales RL, Waugh JL, Blood AJ, Domingo A, Heldmann M, Jamora RD, Münchau A, Münte TF, Lee LV, Buchmann I, Klein C. Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression. Eur J Neurol. 2017 05; 24(5):680-686.
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Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, Ballas ZK, Bonilla FA, Ochs HD, Walter JE. Gastrointestinal Manifestations in X-linked Agammaglobulinemia. J Clin Immunol. 2017 Apr; 37(3):287-294.
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Kinane TB, Lin AE, Lahoud-Rahme M, Westra SJ, Mark EJ. Case 4-2017. A 2-Month-Old Girl with Growth Retardation and Respiratory Failure. N Engl J Med. 2017 02 09; 376(6):562-574.
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Walter U, Rosales R, Rocco A, Westenberger A, Domingo A, Go CL, Brüggemann N, Klein C, Lee LV, Dressler D. Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. Parkinsonism Relat Disord. 2017 Apr; 37:43-49.
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Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism. Mov Disord. 2017 04; 32(4):576-584.
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Vaine CA, Shin D, Liu C, Hendriks WT, Dhakal J, Shin K, Sharma N, Bragg DC. X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B. Neurobiol Dis. 2017 Apr; 100:108-118.
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Lichtenstein DA, Crispin AW, Sendamarai AK, Campagna DR, Schmitz-Abe K, Sousa CM, Kafina MD, Schmidt PJ, Niemeyer CM, Porter J, May A, Patnaik MM, Heeney MM, Kimmelman A, Bottomley SS, Paw BH, Markianos K, Fleming MD. A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. Blood. 2016 10 13; 128(15):1913-1917.
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Brüggemann N, Heldmann M, Klein C, Domingo A, Rasche D, Tronnier V, Rosales RL, Jamora RD, Lee LV, Münte TF. Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism. Parkinsonism Relat Disord. 2016 Oct; 31:91-97.
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Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. Am J Med Genet A. 2016 Aug; 170(8):2103-10.
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