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Fatigue in adults with Osteogenesis Imperfecta
BMC Musculoskeletal Disorders, 2020 Background Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present.
Arjan G. J. Harsevoort +6 more
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BMC Musculoskeletal Disorders, 2022 Background Osteogenesis Imperfecta affects approximately 1 in every 10,000 people. Musculoskeletal disorders and pain are common in adults with Osteogenesis Imperfecta, but specific knowledge of the problems people have is lacking.
Sophie Barlow +4 more
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Management of Osteogenesis Imperfecta [PDF]
Frontiers in Endocrinology, 2020 Osteogenesis imperfecta (OI) is the term used to describe a group of rare inherited skeletal disorders characterized by a greatly increased risk of fragility fractures (1). Mutations in several genes can cause OI but the condition is most commonly caused
S. Ralston, M. Gaston
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OSTEOGENESIS IMPERFECTA CONGENITA [PDF]
The Journal of Nervous and Mental Disease, 1920 This condition was first described by Vorlik in 1849. Up to 1906. 140 cases had been reported. So many names have been used in the description of bone abnormalities in infants that an uncertainty remains as to just what is meant in some of these descriptions.
H. M. McCLANAHAN
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Orphanet Journal of Rare Diseases, 2018 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 physical rehabilitation in children and adolescents with Osteogenesis ...
Brigitte Mueller +17 more
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Journal of Indian Society of Pedodontics and Preventive Dentistry, 2006 Osteogenesis imperfecta is an inherited disorder of the connective tissue. The extreme bone fragility seen in patients suffering from osteogenesis imperfecta pose a series of problems with regard to behavior management and rendering of quality dental ...
Gupte Tejashri +4 more
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Dissecting the phenotypic variability of osteogenesis imperfecta
Disease Models & Mechanisms, 2022 Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the COL1A1
Nadia Garibaldi +6 more
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Osteogenesis Imperfecta: Mechanisms and signaling pathways connecting classical and rare OI types.
Endocrine reviews, 2021 Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal dysplasia characterized by bone fragility, growth deficiency and skeletal deformity. Previously known to be caused by defects in type I collagen, the major protein of
Milena M. Jovanović +2 more
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Nature Communications, 2021 Type I collagen (Col1) is the most abundant protein in mammals. Col1 contributes to 90% of the total organic component of bone matrix. However, the precise cellular origin and functional contribution of Col1 in embryogenesis and bone formation remain ...
Yang Chen +6 more
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Current Overview of Osteogenesis Imperfecta
Medicina, 2021 Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multiple fractures, bone deformity, and short stature.
M. Deguchi +5 more
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