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Osteogenesis Imperfecta

Known as: OSTEOPSATHYROSIS, Fragilitas Ossium, Brittle Bone Disease 
COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and… Expand
National Institutes of Health

Related topics

Related topics

43 relations

Narrower (13)

Al Gazali Sabrinathan Nair syndromeAstley-Kendall syndromeBruck syndrome 1Bruck syndrome 2
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Bone DiseasesBrittle Bone DisorderCOL1A1 geneCOL1A1 wt Allele
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Broader (4)

Bone Diseases, DevelopmentalCollagen DiseasesHereditary DiseasesOsteoporosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
New perspectives on osteogenesis imperfecta
A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder. The more prevalent autosomal dominant… Expand
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Review
2007
Review
2007
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Osteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by fragile bones and easy… Expand
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Highly Cited
2006
Highly Cited
2006
CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta
Prolyl hydroxylation is a critical posttranslational modification that affects structure, function, and turnover of target… Expand
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Highly Cited
2005
Highly Cited
2005
Fetal Mesenchymal Stem-Cell Engraftment in Bone after In Utero Transplantation in a Patient with Severe Osteogenesis Imperfecta
Background. Mesenchymal stem cells (MSC) are progenitors of mesenchymal tissues such as bone, cartilage, and adipose. Adult human… Expand
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Review
2004
Review
2004
Osteogenesis imperfecta
Osteogenesis imperfecta (OI), an inherited skeletal disorder characterized by low bone mass, bone fragility, and often short… Expand
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Highly Cited
2002
Highly Cited
2002
Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone
Treatment with isolated allogeneic mesenchymal cells has the potential to enhance the therapeutic effects of conventional bone… Expand
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Highly Cited
2001
Highly Cited
2001
Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta.
Preclinical models have shown that transplantation of marrow mesenchymal cells has the potential to correct inherited disorders… Expand
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Highly Cited
2001
Highly Cited
2001
INTRINSIC N-TYPE VERSUS P-TYPE DOPING ASYMMETRY AND THE DEFECT PHYSICS OF ZNO
ZnO typifies a class of materials that can be doped via native defects in only one way: either n type or p type. We explain this… Expand
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Highly Cited
1998
Highly Cited
1998
Cyclic administration of pamidronate in children with severe osteogenesis imperfecta.
BACKGROUND Severe osteogenesis imperfecta is a disorder characterized by osteopenia, frequent fractures, progressive deformity… Expand
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Highly Cited
1979
Highly Cited
1979
Genetic heterogeneity in osteogenesis imperfecta.
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least… Expand
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