Results 181 to 190 of about 17,499 (218)
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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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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.
G R, WINTER, P D, MAIOCCO
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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.
M R, Stoltz +2 more
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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.
M R, Stoltz +2 more
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The Journal of Bone & Joint Surgery, 1973
Sixteen patients, eight severely affected (osteogenesis imperfecta congenita), seven moderately (osteogenesis imperfecta tarda), and one mildly (no bone deformity) had iliac-crest biopsy specimens analyzed quantitatively to determine number of osteocytes, fractional areas of bone, length of resorption surface, and other histological parameters per area
K A, Falvo, P G, Bullough
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Sixteen patients, eight severely affected (osteogenesis imperfecta congenita), seven moderately (osteogenesis imperfecta tarda), and one mildly (no bone deformity) had iliac-crest biopsy specimens analyzed quantitatively to determine number of osteocytes, fractional areas of bone, length of resorption surface, and other histological parameters per area
K A, Falvo, P G, Bullough
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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
Terry R, Yochum +2 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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OSTEOGENESIS IMPERFECTA CONGENITA
Journal of Paediatrics and Child Health, 1971SynopsisOsteogenesis imperfecta congenita is a very rare condition. Among 184,311 deliveries over a 5 year period (1965–1969) there were encountered only 3 cases which demonstrated varying degrees of severity of the condition.The incidence, pathological and genetic bases, diagnosis and management of osteogenesis imperfecta congenita are discussed.
K L, Tan, E P, Tock
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The Stapes In Osteogenesis Imperfecta
Acta Oto-Laryngologica, 1968Referring to cases of osteogenesis imperfecta presented by Opheim in the present issue, the authors describe the histological findings in the stapes of a newborn suffering from this disease. It is demonstrated that the actual stapes was abnormal, its crura being fragile and incomplete, whereas the footplate and its surroundings were normal, in contrast
J G, Hall, T, Rohrt
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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.
Nadja, Fratzl-Zelman +3 more
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The ear in osteogenesis imperfecta
The Laryngoscope, 1962AbstractA review of the pertinent historical, clinical, pathological and otologic features of osteogenesis imperfecta is presented. A study of the genetic aspects of the Van der Hoeve Syndrome supports the view that the disease results from one gene or gene complex with wide variations in expressivity.
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