Results 231 to 240 of about 34,713 (262)
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The Lancet, 2004
Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass, and other connective-tissue manifestations. The most frequently used classification outlines four clinical types, which we have expanded to seven distinct types. In most patients the disorder is caused by mutations in one of the two genes encoding collagen type 1,
Frank, Rauch, Francis H, Glorieux
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Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass, and other connective-tissue manifestations. The most frequently used classification outlines four clinical types, which we have expanded to seven distinct types. In most patients the disorder is caused by mutations in one of the two genes encoding collagen type 1,
Frank, Rauch, Francis H, Glorieux
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Orthopedic Clinics of North America, 1990
Publisher Summary Osteogenesis imperfecta (OI) is a highly variable heritable disease of bone characterized by recurring bone fractures. It is the most common single gene defect causing bone disease. Three degrees of deforming OI, types II, III, and IV, are associated with decreasing severity of growth retardation and limb deformity and all result ...
J M, Gertner, L, Root
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Publisher Summary Osteogenesis imperfecta (OI) is a highly variable heritable disease of bone characterized by recurring bone fractures. It is the most common single gene defect causing bone disease. Three degrees of deforming OI, types II, III, and IV, are associated with decreasing severity of growth retardation and limb deformity and all result ...
J M, Gertner, L, Root
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Der Orthopäde, 2014
Osteogenesis imperfecta (OI) is the most common genetic disease of bone and is characterized by fragile bones and growth disorders of varying severity. Most cases of OI are inherited autosomal dominant and caused by a mutation in the collagen type I gene.Indications for OI are bone fragility, stunted growth, scoliosis, skull deformities, blue sclera ...
Maya Salzmann, C. Krohn, Nina Berger
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Osteogenesis imperfecta (OI) is the most common genetic disease of bone and is characterized by fragile bones and growth disorders of varying severity. Most cases of OI are inherited autosomal dominant and caused by a mutation in the collagen type I gene.Indications for OI are bone fragility, stunted growth, scoliosis, skull deformities, blue sclera ...
Maya Salzmann, C. Krohn, Nina Berger
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Journal of the American Academy of Orthopaedic Surgeons, 1998
Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue characterized by bone fragility. The disease state encompasses a phenotypically and genotypically heterogeneous group of inherited disorders that result from mutations in the genes that code for type I collagen.
M S, Kocher, F, Shapiro
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Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue characterized by bone fragility. The disease state encompasses a phenotypically and genotypically heterogeneous group of inherited disorders that result from mutations in the genes that code for type I collagen.
M S, Kocher, F, Shapiro
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The Lancet, 1975
It is now virtually certain that the brittle bone syndrome results from a variety of mutations in the alpha chains of type I collagen. Whilst the increasing biochemical knowledge makes prenatal diagnosis sometimes possible, the care of those with severe physical disability still provides a clinical challenge which is not always met.
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It is now virtually certain that the brittle bone syndrome results from a variety of mutations in the alpha chains of type I collagen. Whilst the increasing biochemical knowledge makes prenatal diagnosis sometimes possible, the care of those with severe physical disability still provides a clinical challenge which is not always met.
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Annual Review of Medicine, 1992
Recent biochemical, linkage, and molecular genetic studies have demonstrated that, in almost every instance, osteogenesis imperfecta results from mutations in the genes that encode the chains of type I collagen. Such studies have done much to improve our understanding of the molecular basis of brittle bone disease, and have provided significant inroads
P H, Byers, R D, Steiner
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Recent biochemical, linkage, and molecular genetic studies have demonstrated that, in almost every instance, osteogenesis imperfecta results from mutations in the genes that encode the chains of type I collagen. Such studies have done much to improve our understanding of the molecular basis of brittle bone disease, and have provided significant inroads
P H, Byers, R D, Steiner
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Best Practice & Research Clinical Rheumatology, 2008
Osteogenesis Imperfecta is a heritable disorder characterized by bone fragility and low bone mass, with a wide spectrum of clinical expression. This review gives an update on its classification, the recent developments in the understanding of its pathophysiological mechanisms, and the current status of bisphosphonate therapy.
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Osteogenesis Imperfecta is a heritable disorder characterized by bone fragility and low bone mass, with a wide spectrum of clinical expression. This review gives an update on its classification, the recent developments in the understanding of its pathophysiological mechanisms, and the current status of bisphosphonate therapy.
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Otosclerosis and Osteogenesis Imperfecta
Archives of Otolaryngology - Head and Neck Surgery, 1969The possibility of a common aetiology of otosclerosis and osteogenesis imperfecta is discussed. The histopathological differences in two temporal bones, one with osteogenesis imperfecta congenita and one with co-existing osteogenesis imperfecta tarda and otosclerosis, are emphasized.
Poul Bretlau, M. Balslev Jørgensen
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Osteogenesis imperfecta and odontogenesis imperfecta
Oral Surgery, Oral Medicine, Oral Pathology, 1949Abstract A review of the pertinent literature is presented. Conspicuous by its absence is any record of a fracture of a mandible or maxilla. A family of 13, 5 members of which are afflicted with osteogenesis imperfecta and 2 spontaneous recent mutations, are reported.
Gordon R. Winter, P.Donald Maiocco
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