Results 111 to 120 of about 32,840 (255)
Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis
Radiology Case Reports, 2020 Osteogenesis imperfecta is a genetic disorder by bone fragility and decreased bone density. Ligamentous laxity is also a feature. We present a case report of a very young, nonmobile infant of 5 months who initially presented with a tibial fracture, and ...
Jane L. Ferguson, MBBS, BSc, MRCP, FRCR +1 more
doaj
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly [PDF]
, 2016 Osteogenesis imperfecta (OI) is a genetic disorder characterised by low bone mineral density resulting in fractures. 85-90% of patients with OI carry a variant in the type 1 collagen genes, COL1A1 and COL1A2, which follows an autosomal dominant pattern ...
Barbirato +17 more
core +1 more source
ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta [PDF]
, 2008 Osteogenesis imperfecta is an inherited disorder characterized by increased bone fragility, fractures, and osteoporosis, and most cases are caused by mutations affecting the type I collagen genes.
Birgit Rathkolb +13 more
core +4 more sources
Osteogenesis imperfecta - Clinical and molecular diversity
European Cells & Materials, 2003 Osteogenesis imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. It exhibits a broad range of clinical severity, ranging from multiple fracturing in utero and perinatal death to normal adult ...
Roughley P. J., Rauch F., Glorieux F. H.
doaj
Archives of Disease in Childhood, 1956 J G, DAVEL, T, FICHARDT, D, VAN DER SPUY
openaire +2 more sources
Journal of Indian Academy of Oral Medicine and Radiology, 2003 Osteogenesis Imperfecta is a genetic disorder affecting approximately 20,000 U.S. population with multiple fracture of the bone. The, actual literature of the number of patients suffering from Osteogenesis Impcrfecta in Indian Population is still nor ...
Prabal Pal
doaj
Disturbance in the Regulation of the Type of Collagen Synthesized in a Form of Osteogenesis Imperfecta [PDF]
, 1975 Peter Müller +3 more
openalex +1 more source