 Bloom Syndrome
"Bloom Syndrome" 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 disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
| Descriptor ID |
D001816
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| MeSH Number(s) |
C16.131.077.137 C18.452.284.100
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| Concept/Terms |
Bloom Syndrome- Bloom Syndrome
- Syndrome, Bloom
- Bloom-Torre-Machacek Syndrome
- Bloom Torre Machacek Syndrome
- Syndrome, Bloom-Torre-Machacek
- Congenital Telangiectatic Erythema
- Bloom's Syndrome
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Below are MeSH descriptors whose meaning is more general than "Bloom Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Bloom Syndrome".
This graph shows the total number of publications written about "Bloom Syndrome" by people in this website by year, and whether "Bloom Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2001 | 1 | 0 | 1 | | 2017 | 0 | 1 | 1 |
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Below are the most recent publications written about "Bloom Syndrome" by people in Profiles.
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Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut F, Molenaar JJ, Porter CC, Sandlund JT, Plon SE, Wang LL, Savage SA. Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Clin Cancer Res. 2017 Jun 01; 23(11):e23-e31.
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Rao VA, Fan AM, Meng L, Doe CF, North PS, Hickson ID, Pommier Y. Phosphorylation of BLM, dissociation from topoisomerase IIIalpha, and colocalization with gamma-H2AX after topoisomerase I-induced replication damage. Mol Cell Biol. 2005 Oct; 25(20):8925-37.
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Jain D, Hui P, McNamara J, Schwartz D, German J, Reyes-Múgica M. Bloom syndrome in sibs: first reports of hepatocellular carcinoma and Wilms tumor with documented anaplasia and nephrogenic rests. Pediatr Dev Pathol. 2001 Nov-Dec; 4(6):585-9.
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Weksberg R, Smith C, Anson-Cartwright L, Maloney K. Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. Am J Hum Genet. 1988 Jun; 42(6):816-24.
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