Results 231 to 240 of about 32,840 (255)
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Annual Review of Medicine, 1992
Recent biochemical, linkage, and molecular genetic studies have demonstrated that, in almost every instance, osteogenesis imperfecta results from mutations in the genes that encode the chains of type I collagen. Such studies have done much to improve our understanding of the molecular basis of brittle bone disease, and have provided significant inroads
P H, Byers, R D, Steiner
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Recent biochemical, linkage, and molecular genetic studies have demonstrated that, in almost every instance, osteogenesis imperfecta results from mutations in the genes that encode the chains of type I collagen. Such studies have done much to improve our understanding of the molecular basis of brittle bone disease, and have provided significant inroads
P H, Byers, R D, Steiner
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Otosclerosis and Osteogenesis Imperfecta
Archives of Otolaryngology - Head and Neck Surgery, 1969The possibility of a common aetiology of otosclerosis and osteogenesis imperfecta is discussed. The histopathological differences in two temporal bones, one with osteogenesis imperfecta congenita and one with co-existing osteogenesis imperfecta tarda and otosclerosis, are emphasized.
Poul Bretlau, M. Balslev Jørgensen
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Osteogenesis imperfecta and odontogenesis imperfecta
Oral Surgery, Oral Medicine, Oral Pathology, 1949Abstract A review of the pertinent literature is presented. Conspicuous by its absence is any record of a fracture of a mandible or maxilla. A family of 13, 5 members of which are afflicted with osteogenesis imperfecta and 2 spontaneous recent mutations, are reported.
Gordon R. Winter, P.Donald Maiocco
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Current Opinion in Pediatrics, 1997
In the past 20 years, tremendous strides have been made in our understanding of the biochemical and genetic abnormalities associated with osteogenesis imperfecta (OI). Prenatal diagnostic techniques have allowed early detection of this disorder, particularly in families in which the actual molecular defect is already known.
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In the past 20 years, tremendous strides have been made in our understanding of the biochemical and genetic abnormalities associated with osteogenesis imperfecta (OI). Prenatal diagnostic techniques have allowed early detection of this disorder, particularly in families in which the actual molecular defect is already known.
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Clinical Orthopaedics and Related Research, 1989
Osteogenesis imperfecta is a heterogenous group of inherited conditions arising from a variety of biochemical and morphological collagen defects. The broad manifestations of abnormalities in bones, teeth, scleri, ligaments, and other collagen-containing tissues point to the heterogeneity of the condition.
Stoltz Mr, Dietrich Sl, Marshall Gj
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Osteogenesis imperfecta is a heterogenous group of inherited conditions arising from a variety of biochemical and morphological collagen defects. The broad manifestations of abnormalities in bones, teeth, scleri, ligaments, and other collagen-containing tissues point to the heterogeneity of the condition.
Stoltz Mr, Dietrich Sl, Marshall Gj
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The Indian Journal of Pediatrics, 1958
An infant, four months old with multiple fractures of long bones and blue sclera is reported. The disease, osteogenesis imperfecta, is quite a rare entity.
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An infant, four months old with multiple fractures of long bones and blue sclera is reported. The disease, osteogenesis imperfecta, is quite a rare entity.
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Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 2007
Osteogenesis imperfecta is a relatively common hereditary connective tissue disorder characterized by bone fragility and fractures. Other frequently affected tissues include tendons, ligaments, skin, sclera, teeth, and middle and inner ear. Molecular studies have demonstrated that most cases result from mutations affecting the genes responsible for the
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Osteogenesis imperfecta is a relatively common hereditary connective tissue disorder characterized by bone fragility and fractures. Other frequently affected tissues include tendons, ligaments, skin, sclera, teeth, and middle and inner ear. Molecular studies have demonstrated that most cases result from mutations affecting the genes responsible for the
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Osteogenesis imperfecta in a weightlifter
Journal of Manipulative and Physiological Therapeutics, 2002To discuss the case of a 42-yr-old weightlifter with osteogenesis imperfecta.The patient had bilateral acute elbow pain and a previous history of more than 35 fractures of the spine and extremities.There is no current treatment for osteogenesis imperfecta. Treatment objectives were designed to minimize pain, improve range of motion, and decrease stress
Richard E. Seibert +2 more
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Classification of osteogenesis imperfecta
Wiener Medizinische Wochenschrift, 2015Osteogenesis imperfecta (OI) is an extremely heterogeneous group of heritable connective tissue disorders. Most of the affected patients carry autosomal dominant mutations in the genes encoding for collagen type I, the most abundant protein of the bone extracellular matrix.
Barbara M. Misof +3 more
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Osteogenesis Imperfecta in the Neonate
Advances in Neonatal Care, 2008Osteogenesis imperfecta is a rare heterozygous disorder of collagen production. It is characterized by osteopenia, blue sclera, bone deformities, and progressive hearing loss. Some infants are diagnosed prenatally, whereas others are diagnosed much later in life.
Lorraine Hackley, Linda Merritt
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