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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
2011
Highly Cited
2011
Biomechanical Evaluation of Knee Joint Laxities and Graft Forces After Anterior Cruciate Ligament Reconstruction by Anteromedial Portal, Outside-In, and Transtibial Techniques
Background: Recently, anatomic anterior cruciate ligament (ACL) reconstruction is emphasized to improve joint laxity and to… 
Highly Cited
2010
Highly Cited
2010
Multiwavelength diagnostics of accretion in an X-ray selected sample of CTTSs
Context. High resolution X-ray spectroscopy has revealed soft X-rays from high density plasma in classical T Tauri stars (CTTSs… 
Highly Cited
2008
Highly Cited
2008
Defective C-propeptides of the Proα2(I) Chain of Type I Procollagen Impede Molecular Assembly and Result in Osteogenesis Imperfecta*
Type I procollagen is a heterotrimer composed of two proα1(I) chains and one proα2(I) chain, encoded by the COL1A1 and COL1A2… 
Highly Cited
2004
Highly Cited
2004
A low switching voltage organic-on-inorganic heterojunction memory element utilizing a conductive polymer fuse on a doped silicon substrate
We present a simple, nonvolatile, write-once-read-many-times (WORM) memory device utilizing an organic-on-inorganic… 
Highly Cited
1995
Highly Cited
1995
Bone mineral density in children with mild osteogenesis imperfecta.
We used dual-energy X-ray absorptiometry (DEXA) to compare the bone mineral density (BMD) of nine children aged from 2 years 7… 
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… 
1983
1983
Prenatal diagnosis of perinatally lethal osteogenesis imperfecta.
Prenatal diagnosis of osteogenesis imperfecta was achieved at 17 weeks of gestation using ultrasound through recognition of low… 
Highly Cited
1983
Highly Cited
1983
Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta.
Skin fibroblasts from a patient with a lethal form of osteogenesis imprefecta were found to synthesize equal amounts of normal… 
1973
1973
Osteogenesis Imperfecta: Morphologic and Biochemical Studies of Connective Tissue
Extract: In iliac crest biopsies from 11 patients (ages from 4 to 22 years) with osteogenesis imperfecta, cortical thickness… 
Highly Cited
1972
Highly Cited
1972
Physiological evidence of hypermetabolism in osteogenesis imperfecta.
Observations on 30 prepubertal patients with osteogenesis imperfecta have shown abnormally low bodyweights and elevations in… 
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