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Osteogenesis Imperfecta
Known as:
OSTEOPSATHYROSIS
, Fragilitas Ossium
, Brittle Bone Disease
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COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and…
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National Institutes of Health
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Related topics
Related topics
43 relations
Narrower (13)
Al Gazali Sabrinathan Nair syndrome
Astley-Kendall syndrome
Bruck syndrome 1
Bruck syndrome 2
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Bone Diseases
Brittle Bone Disorder
COL1A1 gene
COL1A1 wt Allele
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Broader (4)
Bone Diseases, Developmental
Collagen Diseases
Hereditary Diseases
Osteoporosis
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
F. Van Dijk
,
D. Sillence
American Journal of Medical Genetics. Part A
2014
Corpus ID: 14374724
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with…
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Review
2011
Review
2011
New perspectives on osteogenesis imperfecta
A. Forlino
,
W. A. Cabral
,
Aileen M Barnes
,
J. Marini
Nature Reviews Endocrinology
2011
Corpus ID: 13787355
A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder. The more prevalent autosomal dominant…
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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
J. Marini
,
A. Forlino
,
+24 authors
P. Byers
Human Mutation
2007
Corpus ID: 20103321
Osteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by fragile bones and easy…
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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
E. Horwitz
,
P. L. Gordon
,
+5 authors
T. Hofmann
Proceedings of the National Academy of Sciences…
2002
Corpus ID: 11585659
Treatment with isolated allogeneic mesenchymal cells has the potential to enhance the therapeutic effects of conventional bone…
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Highly Cited
2001
Highly Cited
2001
Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta.
E. Horwitz
,
D. Prockop
,
+7 authors
M. Brenner
Blood
2001
Corpus ID: 7324909
Preclinical models have shown that transplantation of marrow mesenchymal cells has the potential to correct inherited disorders…
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Highly Cited
2001
Highly Cited
2001
Intrinsic n-type versus p-type doping asymmetry and the defect physics of ZnO
Shengbai Zhang
,
S. Wei
,
A. Zunger
2001
Corpus ID: 115140835
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…
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Highly Cited
1998
Highly Cited
1998
Cyclic administration of pamidronate in children with severe osteogenesis imperfecta.
F. Glorieux
,
N. Bishop
,
H. Plotkin
,
G. Chabot
,
G. Lanoue
,
R. Travers
New England Journal of Medicine
1998
Corpus ID: 19316414
BACKGROUND Severe osteogenesis imperfecta is a disorder characterized by osteopenia, frequent fractures, progressive deformity…
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Highly Cited
1998
Highly Cited
1998
Marrow stromal cells as a source of progenitor cells for nonhematopoietic tissues in transgenic mice with a phenotype of osteogenesis imperfecta.
R. Pereira
,
M. O'Hara
,
+6 authors
D. Prockop
Proceedings of the National Academy of Sciences…
1998
Corpus ID: 25168181
Marrow stromal cells from wild-type mice were infused into transgenic mice that had a phenotype of fragile bones resembling…
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Highly Cited
1987
Highly Cited
1987
Bone “mass” and the “mechanostat”: A proposal
H. Frost
The Anatomical Record
1987
Corpus ID: 25555137
The observed fit of bone mass to a healthy animal's typical mechanical usage indicates some mechanism or mechanisms monitor that…
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Highly Cited
1979
Highly Cited
1979
Genetic heterogeneity in osteogenesis imperfecta.
D. Sillence
,
A. Senn
,
D. Danks
Journal of Medical Genetics
1979
Corpus ID: 8212513
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least…
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