"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
|
| MeSH Number(s) |
C05.116.099.708.685 C16.320.737 C17.300.200.540
|
| Concept/Terms |
Lobstein's Disease- Lobstein's Disease
- Disease, Lobstein's
- Lobsteins Disease
- Osteogenesis Imperfecta, Type I
- Osteogenesis Imperfecta with Blue Sclerae
- Osteogenesis Imperfecta, Type 1
- Lobstein Disease
- Disease, Lobstein
- Osteogenesis Imperfecta Tarda
- Osteogenesis Imperfecta Tardas
|
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.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 1 | 0 | 1 |
| 2000 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2005 | 0 | 1 | 1 |
| 2008 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 6 | 1 | 7 |
| 2014 | 7 | 0 | 7 |
| 2015 | 4 | 0 | 4 |
| 2016 | 1 | 0 | 1 |
| 2017 | 3 | 0 | 3 |
| 2018 | 5 | 0 | 5 |
| 2019 | 7 | 1 | 8 |
| 2020 | 4 | 0 | 4 |
| 2021 | 6 | 0 | 6 |
| 2022 | 4 | 0 | 4 |
| 2023 | 5 | 0 | 5 |
| 2024 | 5 | 0 | 5 |
| 2025 | 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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Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique. J Bone Miner Res. 2025 Feb 02; 40(2):211-221.
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Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study. J Bone Miner Res. 2024 Sep 02; 39(9):1215-1228.
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The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect. J Clin Invest. 2024 Jun 17; 134(15).
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Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta. Disabil Rehabil. 2025 Feb; 47(3):709-718.
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Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood. Calcif Tissue Int. 2024 Dec; 115(6):863-872.
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Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study. J Clin Psychol Med Settings. 2024 Sep; 31(3):614-627.
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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005.
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Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants. Orthod Craniofac Res. 2024 Apr; 27(2):237-243.
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Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta. J Clin Endocrinol Metab. 2023 06 16; 108(7):1787-1796.
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A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta. Am J Med Genet A. 2023 09; 191(9):2267-2275.