"Ataxia Telangiectasia" 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.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
- Ataxia Telangiectasia
- Telangiectasia, Cerebello-Oculocutaneous
- Ataxia Telangiectasia Syndrome
- Syndrome, Ataxia Telangiectasia
- Louis-Bar Syndrome
- Louis Bar Syndrome
- Syndrome, Louis-Bar
Below are MeSH descriptors whose meaning is more general than "Ataxia Telangiectasia".
Below are MeSH descriptors whose meaning is more specific than "Ataxia Telangiectasia".
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Below are the most recent publications written about "Ataxia Telangiectasia" by people in Profiles.
Preclinical Risk Evaluation of Normal Tissue Injury With Novel Radiosensitizers. Int J Radiat Oncol Biol Phys. 2021 12 01; 111(5):e54-e62.
In vitro radiosensitivity of fibroblasts from thyroid and skin cancer patients treated with X-rays for tinea capitis. Cancer Epidemiol Biomarkers Prev. 1994 Apr-May; 3(3):229-32.
Regulation of the autoactivation of human 72-kDa progelatinase by tissue inhibitor of metalloproteinases-2. J Biol Chem. 1991 Jul 15; 266(20):13064-9.