Osteogenesis imperfecta

A Forlino, JC Marini - The Lancet, 2016 - thelancet.com
Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of
inherited connective tissue disorders that share similar skeletal abnormalities causing bone …

Osteogenesis imperfecta

JC Marini, WA Cabral - Genetics of bone biology and skeletal disease, 2018 - Elsevier
Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

Osteogenesis imperfecta–a clinical update

S Tournis, AD Dede - Metabolism, 2018 - Elsevier
Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and
includes a heterogenous group of genetic disorders which most commonly result from …

Osteogenesis imperfecta: new perspectives from clinical and translational research

JT Tauer, ME Robinson, F Rauch - Journal of Bone and Mineral …, 2019 - academic.oup.com
Osteogenesis imperfecta (OI) is a monogenic bone fragility disorder that usually is caused
by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or …

Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta

B Mueller, R Engelbert, F Baratta-Ziska… - Orphanet journal of rare …, 2018 - Springer
On the occasion of the 13th International Conference on Osteogenesis imperfecta in August
2017 an expert panel was convened to develop an international consensus paper regarding …

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

M Rapoport, MB Bober, C Raggio, LL Wekre… - Orphanet Journal of …, 2023 - Springer
Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder
primarily characterised by skeletal deformity and fragility, and an array of secondary …

Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives

A Bregou Bourgeois, B Aubry-Rozier… - Swiss medical …, 2016 - infoscience.epfl.ch
Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic
and molecular heterogen-eity. A common issue associated with the molecular ab-normality …

The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review

A Tsimicalis, G Denis-Larocque, A Michalovic… - Quality of Life …, 2016 - Springer
Purpose Osteogenesis imperfecta (OI) is a genetic disorder (prevalence: 1: 10,000), leading
to bone fragility, frequent fractures, and varying degrees of physical limitations. Despite a …

[HTML][HTML] Muscle abnormalities in osteogenesis imperfecta

LN Veilleux, P Trejo, F Rauch - Journal of musculoskeletal & …, 2017 - ncbi.nlm.nih.gov
Osteogenesis imperfecta (OI) is mainly characterized by bone fragility but muscle
abnormalities have been reported both in OI mouse models and in children with OI. Muscle …

Mortality and morbidity in patients with osteogenesis imperfecta in Denmark

L Folkestad - Danish medical journal, 2018 - portal.findresearcher.sdu.dk
Ostegenesis Imperfecta (OI) is a hereditary disease of the connective tissue caused by
mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1 …