Osteogenesis Imperfecta Medical Journals

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Osteogenesis Imperfecta | Endocrine Society

https://www.endocrine.org/journals/endocrine-reviews/osteogenesis-imperfecta

The function of regulated intramembrane proteolysis has been extended beyond cholesterol metabolism to bone formation by defects in regulated membrane …

Osteogenesis imperfecta-pathophysiology and …

https://pubmed.ncbi.nlm.nih.gov/32797291/

Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as …

Osteogenesis imperfecta: clinical diagnosis, …

https://pubmed.ncbi.nlm.nih.gov/24715559/

Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic …

Osteogenesis Imperfecta | Johns Hopkins Medicine

https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta

Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that …

Adults with Osteogenesis Imperfecta

https://www.nejm.org/doi/full/10.1056/NEJMicm062996

Osteogenesis imperfecta is a heritable disorder caused by mutations in the gene for type I …

The Mechanical Properties of Skin in Osteogenesis …

https://jamanetwork.com/journals/jamadermatology/fullarticle/478895

Osteogenesis imperfecta can be a severely debilitating disease, and a method is needed to predict the prognosis in individual patients. The disease is classified into 4 types, but in …

Osteogenesis imperfecta: advancements in genetics and …

https://journals.lww.com/co-pediatrics/Abstract/2019/12000/Osteogenesis_imperfecta__advancements_in_genetics.5.aspx

Osteogenesis imperfecta is a skeletal dysplasia characterized by bone fragility and extraskeletal manifestations. Better understanding of the mechanisms of osteogenesis …

Osteogenesis Imperfecta : JAAOS - Journal of the …

https://journals.lww.com/jaaos/Abstract/1998/07000/Osteogenesis_Imperfecta.4.aspx

Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue characterized by bone fragility. The disease state encompasses a phenotypically and …

Osteogenesis Imperfecta | Peer Reviewed Journals

https://www.longdom.org/peer-reviewed-journals/osteogenesis-imperfecta-4150.html

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this …

Genetic heterogeneity in osteogenesis imperfecta.

https://jmg.bmj.com/content/16/2/101

An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. …

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