Results 171 to 180 of about 17,499 (218)
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Lancet, The, 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
exaly +5 more sources
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
exaly +5 more sources
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 H Glorieux
exaly +3 more sources
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 H Glorieux
exaly +3 more sources
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 ...
Antonella Forlino +2 more
exaly +2 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
openaire +3 more sources
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
openaire +3 more sources
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
openaire +2 more sources
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, 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 ...
openaire +2 more sources
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 ...
openaire +2 more sources
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
openaire +2 more sources
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
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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Current Opinion in Pediatrics, 1997
In the past 20 years, tremendous strides have been made in our understanding of the biochemical and genetic abnormalities associated with osteogenesis imperfecta (OI). Prenatal diagnostic techniques have allowed early detection of this disorder, particularly in families in which the actual molecular defect is already known.
openaire +2 more sources
In the past 20 years, tremendous strides have been made in our understanding of the biochemical and genetic abnormalities associated with osteogenesis imperfecta (OI). Prenatal diagnostic techniques have allowed early detection of this disorder, particularly in families in which the actual molecular defect is already known.
openaire +2 more sources