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Page 1
Comprehensive Review of Osteogenesis Imperfecta: Current Treatments and Future Innovations.
Chaugule S, Constantinou CK, John AA, Micha D, Eekhoff M, Gravallese E, Gao G, Shim JH. Chaugule S, et al. Hum Gene Ther. 2025 Mar;36(5-6):597-617. doi: 10.1089/hum.2024.191. Epub 2025 Feb 11. Hum Gene Ther. 2025. PMID: 39932815 Free PMC article. Review.
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility due to reduced bone quality, often accompanied by low bone mass, recurrent fractures, hearing loss, skeletal abnormalities, and short stature. ...
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility due to reduced bone quality, often acc …
Update on the Genetics of Osteogenesis Imperfecta.
Jovanovic M, Marini JC. Jovanovic M, et al. Calcif Tissue Int. 2024 Dec;115(6):891-914. doi: 10.1007/s00223-024-01266-5. Epub 2024 Aug 11. Calcif Tissue Int. 2024. PMID: 39127989 Free PMC article. Review.
Osteogenesis imperfecta (OI) is a heterogeneous heritable skeletal dysplasia characterized by bone fragility and deformity, growth deficiency, and other secondary connective tissue defects. ...
Osteogenesis imperfecta (OI) is a heterogeneous heritable skeletal dysplasia characterized by bone fragility and deformity, gr …
Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.
Glorieux FH, Langdahl B, Chapurlat R, De Beur SJ, Sutton VR, Poole KES, Dahir KM, Orwoll ES, Willie BM, Mikolajewicz N, Zimmermann E, Hosseinitabatabaei S, Ominsky MS, Saville C, Clancy J, MacKinnon A, Mistry A, Javaid MK. Glorieux FH, et al. J Bone Miner Res. 2024 Sep 2;39(9):1215-1228. doi: 10.1093/jbmr/zjae112. J Bone Miner Res. 2024. PMID: 39012717 Free PMC article. Clinical Trial.
Osteogenesis imperfecta (OI) is a rare genetic disorder commonly caused by variants of the type I collagen genes COL1A1 and COL1A2. ...Asteroid demonstrated a beneficial effect of setrusumab on estimates of bone strength across the different types of OI and provides …
Osteogenesis imperfecta (OI) is a rare genetic disorder commonly caused by variants of the type I collagen genes COL1A1 and CO …
Pregnancy-Related Complications in Osteogenesis Imperfecta.
Collier M, Hannoun P, Cormier-Daire V, Treluyer JM, Benachi A, Koumakis E. Collier M, et al. Obstet Gynecol. 2025 Dec 1;146(6):851-859. doi: 10.1097/AOG.0000000000005957. Epub 2025 Jul 21. Obstet Gynecol. 2025. PMID: 40472374 Free PMC article.
Osteogenesis imperfecta was associated with major congenital anomalies (adjusted RR 5.04, 95% CI, 3.97-6.39 overall; adjusted RR 1.67, 95% CI, 1.09-2.56 when osteogenesis imperfecta was excluded from the congenital anomaly definition), especially cardi …
Osteogenesis imperfecta was associated with major congenital anomalies (adjusted RR 5.04, 95% CI, 3.97-6.39 overall; adjusted …
Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta.
Liu W, Nicol L, Orwoll E. Liu W, et al. Calcif Tissue Int. 2024 Dec;115(6):805-811. doi: 10.1007/s00223-024-01188-2. Epub 2024 Mar 12. Calcif Tissue Int. 2024. PMID: 38472351 Review.
Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility largely caused by defects in structure, synthesis, or post-translational processing of type I collagen. ...A PubMed online database search of all study types published in th …
Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility largely caused by defects in stru …
Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.
Hald JD, Langdahl B, Folkestad L, Wekre LL, Johnson R, Nagamani SCS, Raggio C, Ralston SH, Semler O, Tosi L, Orwoll E. Hald JD, et al. Calcif Tissue Int. 2024 Dec;115(6):863-872. doi: 10.1007/s00223-024-01236-x. Epub 2024 Jun 5. Calcif Tissue Int. 2024. PMID: 38836890 Free PMC article. Review.
Osteogenesis imperfecta (OI) is a Mendelian connective tissue disorder associated with increased bone fragility and other clinical manifestations most commonly due to abnormalities in production, structure, or post-translational modification of type I collagen. ...
Osteogenesis imperfecta (OI) is a Mendelian connective tissue disorder associated with increased bone fragility and other clin …
Osteogenesis imperfecta: shifting paradigms in pathophysiology and care in children.
Stasek S, Zaucke F, Hoyer-Kuhn H, Etich J, Reincke S, Arndt I, Rehberg M, Semler O. Stasek S, et al. J Pediatr Endocrinol Metab. 2024 Dec 16;38(1):1-15. doi: 10.1515/jpem-2024-0512. Print 2025 Jan 29. J Pediatr Endocrinol Metab. 2024. PMID: 39670712 Free article. Review.
Impaired bone formation results in bone fragility, which is especially pronounced in osteogenesis imperfecta (OI). This rare genetic disorder is characterized by frequent fractures as well as extraskeletal manifestations. ...
Impaired bone formation results in bone fragility, which is especially pronounced in osteogenesis imperfecta (OI). This rare g …
Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta.
Marulanda J, Retrouvey JM, Rauch F. Marulanda J, et al. Calcif Tissue Int. 2024 Dec;115(6):923-930. doi: 10.1007/s00223-024-01276-3. Epub 2024 Aug 21. Calcif Tissue Int. 2024. PMID: 39167113 Review.
Although fractures are the defining characteristic of osteogenesis imperfecta (OI), the disorder affects many tissues. Here we discuss three facets of the OI phenotype, skeletal growth and development, skeletal muscle weakness and the dental and craniofacial charact …
Although fractures are the defining characteristic of osteogenesis imperfecta (OI), the disorder affects many tissues. Here we …
Orthopedic Surgery in Osteogenesis Imperfecta in Adults.
Bizot P. Bizot P. Calcif Tissue Int. 2024 Dec;115(6):976-988. doi: 10.1007/s00223-024-01306-0. Epub 2024 Nov 16. Calcif Tissue Int. 2024. PMID: 39550451 Review.
Osteogenesis imperfecta is a genetic disorder, mainly characterized by bone fragility. In adult with osteogenesis imperfecta, surgical treatment may be indicated as an emergency procedure in the event of a fracture, or as a scheduled procedure in case …
Osteogenesis imperfecta is a genetic disorder, mainly characterized by bone fragility. In adult with osteogenesis im …
Bruck syndrome in pregnancy.
Manohar S, Jakes A, Watt-Coote I, Khalil A. Manohar S, et al. BMJ Case Rep. 2024 Sep 10;17(9):e257696. doi: 10.1136/bcr-2023-257696. BMJ Case Rep. 2024. PMID: 39256175 Free PMC article.
Bruck syndrome is a rare, autosomal-recessive condition associated with features of both arthrogryposis and osteogenesis imperfecta. It is characterised by congenital large joint contractures with pterygia and bone fragility, leading to fractures and deformities, al …
Bruck syndrome is a rare, autosomal-recessive condition associated with features of both arthrogryposis and osteogenesis imperfect …
233 results