Results 11 to 20 of about 17,499 (218)

Osteogenesis imperfecta [PDF]

The Lancet, 2016
Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years ...
FORLINO, ANTONELLA, Marini, Joan C.
core   +5 more sources

Intramedullary Nailing of Deformity and Fracture in a Patient with Osteogenesis Imperfecta

Haseki Tıp Bülteni, 2014
Osteogenesis imperfecta is a hereditary disorder characterized by increased bone fragility. The production of type I collagen and endochondral bone development are disturbed.
Hasan Göçer, Serdar Ulusoy, Alper Çıraklı, İbrahim Kaya, Nevzat Dabak   +4 more
doaj   +2 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   +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.
Ralston, Stuart H., Thomas S Lisse, Eckhard Wolf, Quintanilla-Martinez Leticia, de Angelis Martin Hrabé, Fuchs Helmut, Lisse Thomas S, Gabriele Hoelzlwimmer, Hrabě de Angelis, M., Martin Hrabé de Angelis, Hölzlwimmer, G., Abe, Koichiro, Rathkolb, Birgit, de Angelis, Martin Hrabe, Hans, Wolfgang, Rathkolb, B., Quintanilla-Martinez, Leticia, Ralston, Stuart H, Koichiro Abe, Abe, K., Wolf Eckhard, Przemeck, G.K.H., Hans Wolfgang, Hoelzlwimmer, Gabriele, Przemeck Gerhard K. H, Fuchs, H., Abe Koichiro, Hoelzlwimmer Gabriele, Hrabé de Angelis, Martin, Wolf, E., Miep Helfrich, Lisse, Thomas S, Quintanilla-Martinez, L., Thiele, F., Ralston, S.H., Helmut Fuchs, Gerhard K H Przemeck, Helfrich, M., Helfrich, Miep, Przemeck, Gerhard K. H., Lisse, Thomas S., Thiele, Frank, Frank Thiele, Helfrich Miep, Stuart H Ralston, Wolfgang Hans, Hans, W., Przemeck, Gerhard K H, Thiele Frank, Rathkolb Birgit, Ralston Stuart H, Lisse, T.S., Birgit Rathkolb, Fuchs, Helmut, Wolf, Eckhard, Leticia Quintanilla-Martinez   +55 more
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Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

Orphanet Journal of Rare Diseases, 2021
Background Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics.
Muhammad Kassim Javaid, Marina Mordenti, Manila Boarini, Luca Sangiorgi, ERN BOND Working Group, Ingunn Westerheim, Inês Alves, Rebecca Tvedt Skarberg, Natasha M. Appelman-Dijkstra, Corinna Grasemann   +9 more
doaj   +1 more source

Osteogenesis Imperfecta: An Overview [PDF]

, 2022
Osteogenesis Imperfecta (OI) or commonly referred to as brittle bone disease is a congenital connective tissue formation disorder characterized by bone fragility, osteopenia, skin disorders, blue sclera, dentinogenesis imperfecta (DI), and hearing loss ...
Rahma Ira Mustikasari, -, Nur Rochmah, -, Muhammad Faizi, -, Qurrota Ayuni Novia Putri, -   +3 more
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Surgical Treatment of a Bilateral Mandibular Fracture in a Patient with Osteogenesis Imperfecta Type III

Plastic and Reconstructive Surgery, Global Open, 2021
Summary:. Osteogenesis imperfecta is a group of genetic disorders affecting skeletal and connective tissue that commonly presents with a history of multiple fractures.
Mac Kenzie J. Reece, DO, MS, Kyle Quillin, DO, Tyler Jay Homewood, DO, Jared Bunevich, DO, Ms. Ed   +3 more
doaj   +1 more source

Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears. [PDF]

, 2011
Item does not contain fulltextIntraoperative findings of stapes surgery in 34 ears from 22 patients with genetically confirmed osteogenesis imperfecta (OI) are reported, as well as the audiometric results after the longest postoperative follow-up ...
Swinnen, Freya, Swinnen, FreyaUZGent002001436766802000236573977914973664F9644220-F0ED-11E1-A9DE-61C894A0A6B4, De Leenheer, Els, Swinnen, F.K.R., Coucke, PaulGE31UZGent0001712314708010016360240000-0001-7119-586XF6730D80-F0ED-11E1-A9DE-61C894A0A6B4, Leenheer, E.M. De, Cremers, Cor, Coucke, Paul, Cremers, Cor WRJ, Dhooge, IngeborgGE34UZGent8010008783130000-0002-5915-1079F4A8B1EE-F0ED-11E1-A9DE-61C894A0A6B4, Cremers, C.W.R.J., Coucke, P.J., Dhooge, I.J., Dhooge, Ingeborg, De Leenheer, ElsGE34UZGent8020000108470000-0002-2789-3529F841462C-F0ED-11E1-A9DE-61C894A0A6B4   +14 more
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Translational Research in Osteogenesis Imperfecta and Cell Therapy

Proceedings, 2021
On 6 and 7 of February 2019, Center for Stem cell Research (CSCR) and Pediatric orthopedic Unit at Christian Medical College (CMC), Vellore, conducted a meet on Translational Research in Osteogenesis Imperfecta and Cell Therapy.
Vrisha Madhuri, Sowmya Ramesh, Renita Raymond, Agnes Selina, Lakshmi Loganathan   +4 more
doaj   +1 more source

Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy

Journal of Pediatric Surgery Case Reports, 2021
Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can ...
Nelimar Cruz Centeno, Victor N. Ortiz Justiniano   +1 more
doaj   +1 more source