Results 21 to 30 of about 27,998 (224)

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

Structure-mechanics relationships of collagen fibrils in the Osteogenesis Imperfecta Mouse model [PDF]

, 2015
The collagen molecule, which is the building block of collagen fibrils, is a triple helix of two α1(I) chains and one α2(I) chain. However, in the severe mouse model of osteogenesis imperfecta (OIM), deletion of the COL1A2 gene results in the ...
Andriotis, OG, Buhler, MJ, Chang, SW, Davies, DE, Howarth, PH, Shefelbine, S, Thurner, PJ, Vanleene, M   +7 more
core   +4 more sources

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

Micro-CT Characterization of Human Trabecular Bone in Osteogenesis Imperfecta [PDF]

, 2011
Osteogenesis imperfecta (OI) is a genetic syndrome affecting collagen synthesis and assembly. Its symptoms vary widely but commonly include bone fragility, reduced stature, and bone deformity.
Albert, Carolyne, Harris, Gerald F, Jameson, John, Molthen, Robert C., Smith, Peter   +4 more
core   +2 more sources

Minimally invasive orthodontics: elastodontic therapy in a growing patient affected by Dentinogenesis Imperfecta [PDF]

, 2017
AIM: The aim of the study was to report the use of an elastodontic therapy in a growing patient affected by Dentinogenesis Imperfecta, second class malocclusion, deep bite and lower arch crowding from the deciduous dentition to permanent one. CASE
IERARDO, GAETANO, LUZZI, Valeria, NARDACCI, GIULIANA, POLIMENI, Antonella, VOZZA, Iole   +4 more
core   +1 more source

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation [PDF]

, 2009
: Background: Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein.
Coucke, Paul, De Paepe, Anne, Gevaert, Kris, Kayserili, H., Leroy, J. G., Malfait, Fransiska, Megarbane, A., Mortier, Geert, Symoens, Sofie, Willaert, Andy   +9 more
core   +2 more sources

Temporary brittle bone disease:association with intracranial bleeding [PDF]

, 2013
We report 20 infants aged between 1 month and 6 months found to have subdural bleeding and also multiple unexplained fractures in a pattern similar to that described earlier as temporary brittle bone disease. Child abuse seemed unlikely as a cause of the
Ayoub, Ayoub, Bacopoulou, Bacopoulou, Barzegar, Barzegar, Caffey, Caffey, Dabezies, Dabezies, Evensen, Evensen, Fenton, Fenton, Gabaeff, Gabaeff, Galaznik, Galaznik, Garcia, Garcia, Geddes, Geddes, Gilman, Gilman, Gomez, Gomez, Graziani, Graziani, Gupta, Gupta, Hegedüs, Hegedüs, Jackson, Jackson, Jenny, Jenny, Keller, Keller, Kidd, Kidd, Kosmetatos, Kosmetatos, Lucas, Lucas, McLean, McLean, Mena, Mena, Mendelson, Mendelson, Miller, Miller, Muller, Muller, Nassogne, Nassogne, Ozdemir, Ozdemir, Parmar, Parmar, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Pontz, Pontz, Rooks, Rooks, Rorke, Rorke, Saarinen, Saarinen, Sasaki, Sasaki, Sayre, Sayre, Shearer, Shearer, Sillence, Sillence, Sohda, Sohda, Squier, Squier, Stanley, Stanley, Targher, Targher, Terling, Terling, Uscinski, Uscinski, Visser, Visser, Wei, Wei, Weir, Weir   +105 more
core   +3 more sources

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

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]

, 2019
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila, Celli, Mauro, Corsini, Serena, D'Eufemia, Patrizia, Gnoli, Maria, Maioli, Margherita, Mordenti, Marina, Pedrini, Elena, Sangiorgi, Luca, Tremosini, Morena, Versacci, Paolo, Zambrano, Anna   +11 more
core   +1 more source

Osteogensis imperfecta

Pan African Medical Journal, 2021
Osteogenesis imperfecta is a rare hereditary connective tissue disorder that affects the bones fragility. It causes the bones to break easily. The defective gene affects the body mechanism to form collagen, which strengthens the bone. A 20-year-old male patient came with complaints of pain in the left leg since morning.
Surya Besant Natarajan, Krishna Prasanth Baalann   +1 more
openaire   +3 more sources