 Osteogenesis Imperfecta
"Osteogenesis Imperfecta" 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.
COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
| Descriptor ID |
D010013
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| MeSH Number(s) |
C05.116.099.708.685 C16.320.737 C17.300.200.540
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| Concept/Terms |
Lobstein's Disease- Lobstein's Disease
- Disease, Lobstein's
- Lobsteins Disease
- Osteogenesis Imperfecta with Blue Sclerae
- Osteogenesis Imperfecta Tarda
- Osteogenesis Imperfecta Tardas
- Lobstein Disease
- Disease, Lobstein
- Osteogenesis Imperfecta, Type 1
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Below are MeSH descriptors whose meaning is more general than "Osteogenesis Imperfecta".
Below are MeSH descriptors whose meaning is more specific than "Osteogenesis Imperfecta".
This graph shows the total number of publications written about "Osteogenesis Imperfecta" by people in this website by year, and whether "Osteogenesis Imperfecta" 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 |
|---|
| 1984 | 1 | 0 | 1 | | 2012 | 0 | 1 | 1 | | 2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Osteogenesis Imperfecta" by people in Profiles.
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Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. J Med Genet. 2016 06; 53(6):427-30.
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Qin J, Berdyshev E, Poirer C, Schwartz NB, Dawson G. Neutral sphingomyelinase 2 deficiency increases hyaluronan synthesis by up-regulation of Hyaluronan synthase 2 through decreased ceramide production and activation of Akt. J Biol Chem. 2012 Apr 20; 287(17):13620-32.
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Eddeine HS, Dafer RM, Schneck MJ, Biller J. Bilateral subdural hematomas in an adult with osteogenesis imperfecta. J Stroke Cerebrovasc Dis. 2009 Jul-Aug; 18(4):313-5.
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Zeller EA, Huprikar SV, Gibbons RD, Millar EA. Influence of age, sex and osteogenesis imperfecta on count, protein content, and monoamine oxidase activity of human thrombocytes. Clin Chim Acta. 1984 Feb 28; 137(2):123-9.
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Papathanasios B, Dendrinos C, Mposinakos M. [Osteogenesis imperfecta associated with dentinogenesis imperfecta]. Stomatologia (Athenai). 1979 Mar-Apr; 36(2):90-4.
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