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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… 
National Institutes of Health

Related topics

Related topics

43 relations

Narrower (13)

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

Broader (4)

Bone Diseases, DevelopmentalCollagen DiseasesHereditary DiseasesOsteoporosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2000
Highly Cited
2000
Intramedullary rodding in osteogenesis imperfecta.
The results of intramedullary rodding of long bones of 16 children with osteogenesis imperfecta, over a 10-year period, were… 
Highly Cited
1988
Highly Cited
1988
A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.
Highly Cited
1987
Highly Cited
1987
COOH-terminal propeptides of the major human procollagens. Structural, functional and genetic comparisons.
Highly Cited
1985
Highly Cited
1985
Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.
Recently, the dermal fibroblasts (ATCC CRL 1262) of a lethal perinatal variant of osteogenesis imperfecta have been used for the… 
Highly Cited
1984
Highly Cited
1984
Role of oxygen intermediates in UV-induced epidermal cell injury.
To investigate the role of oxygen intermediates (OIs) in sunburn cell (SC) formation and development of UV-inflammation in vivo… 
Highly Cited
1982
Highly Cited
1982
Diagnosis of fetal skeletal dysplasias with ultrasound.
Highly Cited
1981
Highly Cited
1981
The spine and surgical treatment in osteogenesis imperfecta.
In the osteogenesis imperfecta patient, spinal deformity should be expected, particularly in the severely affected nonambulator… 
1981
1981
Systemic treatment of osteogenesis imperfecta.
Seventy percent of published articles on the medical treatment of osteogenesis imperfecta have claimed beneficial results for 20… 
Highly Cited
1977
Highly Cited
1977
Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen.
Collagen from bone (femur and calvarium), rib cartilage, skin, tendon, sclera, and cornea has been isolated and purified from a… 
Review
1971
Review
1971
OSTEOGENESIS IMPERFECTA: An Orthopaedic Description and Surgical Review
1. Osteogenesis imperfecta is characterised by osseous fragility. Patients with the "congenita" form have multiple fractures… 
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