Results 221 to 230 of about 109,635 (268)
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Best Practice and Research in 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.
Francis Glorieux
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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.
Francis Glorieux
exaly +3 more sources
Orthopedic Clinics of North America, 1990
Osteogenesis imperfecta describes a group of heritable disorders characterized by excessive bony fragility and reduced skeletal mass. It is classified in terms of its clinical manifestations, but our understanding of the underlying genetic defects in collagen synthesis is increasing rapidly.
J M, Gertner, L, Root
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Osteogenesis imperfecta describes a group of heritable disorders characterized by excessive bony fragility and reduced skeletal mass. It is classified in terms of its clinical manifestations, but our understanding of the underlying genetic defects in collagen synthesis is increasing rapidly.
J M, Gertner, L, Root
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New perspectives on osteogenesis imperfecta
Nature Reviews Endocrinology, 2011 A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder. The more prevalent autosomal dominant forms of osteogenesis imperfecta are caused by primary defects in type I collagen, whereas autosomal recessive forms are caused ...
Aileen Barnes +2 more
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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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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 ...
M, Salzmann, C, Krohn, N, 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 ...
M, Salzmann, C, Krohn, N, Berger
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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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Der Orthopäde, 2012
The classic Sillence classification of the four types of osteogenesis imperfecta (OI) has been extended by six additional forms in recent years. OI is a heterogeneous disease, which can exhibit a mild, moderate and severe clinical picture. The clinical variability is expressed by a different frequency of fracture incidences and bone deformity risks so ...
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The classic Sillence classification of the four types of osteogenesis imperfecta (OI) has been extended by six additional forms in recent years. OI is a heterogeneous disease, which can exhibit a mild, moderate and severe clinical picture. The clinical variability is expressed by a different frequency of fracture incidences and bone deformity risks so ...
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Facial Plastic Surgery Clinics of North America, 2014
James Sidman, MD, and Sherard A. Tatum, MD, address the following questions for discussion and debate. Is neonatal distraction osteogenesis (DO) better than lip-tongue adhesion or tracheotomy for micrognathic airway compromise? What role does DO have in adult orthognathic surgery situations?
James, Sidman, Sherard Austin, Tatum
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James Sidman, MD, and Sherard A. Tatum, MD, address the following questions for discussion and debate. Is neonatal distraction osteogenesis (DO) better than lip-tongue adhesion or tracheotomy for micrognathic airway compromise? What role does DO have in adult orthognathic surgery situations?
James, Sidman, Sherard Austin, Tatum
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Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 2007
Osteogenesis imperfecta is a relatively common hereditary connective tissue disorder characterized by bone fragility and fractures. Other frequently affected tissues include tendons, ligaments, skin, sclera, teeth, and middle and inner ear. Molecular studies have demonstrated that most cases result from mutations affecting the genes responsible for the
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Osteogenesis imperfecta is a relatively common hereditary connective tissue disorder characterized by bone fragility and fractures. Other frequently affected tissues include tendons, ligaments, skin, sclera, teeth, and middle and inner ear. Molecular studies have demonstrated that most cases result from mutations affecting the genes responsible for the
openaire +2 more sources