Results 21 to 30 of about 35,518 (257)

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]

, 2019
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel, Guillemyn, Brecht, Jagadeesh, Sujatha, Malfait, Fransiska, Nampoothiri, Sheela, Suresh, Beena, Symoens, Sofie, Turan, Serap, Yesodharan, Dhanya   +8 more
core   +1 more source

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]

, 2013
Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, Lopez-Gonzalez, Vanesa, Malfait, Fransiska, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, Symoens, Sofie   +9 more
core   +2 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

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

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.
openaire   +3 more sources

Recent Developments in Osteogenesis Imperfecta [PDF]

, 2015
Osteogenesis imperfecta (OI) is an uncommon genetic bone disease associated with brittle bones and fractures in children and adults. Although OI is most commonly associated with mutations of the genes for type I collagen, many other genes (some ...
Albert, Carolyne, Fritz, Jessica M., Harris, Gerald F., Shaker, Joseph L.   +3 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

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

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. [PDF]

, 2019
PurposeOsteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI.MethodsUsing data from the Linked ...
A Lund, A Markmann, AD Letocha, AK Anissipour, Allison Tam, B Sykes, BJ Belt-Niedbala, Brendan Lee, BU Nwosu, C Land, D Gatti, David Cuthbertson, DO Sillence, DR Keene, EL Germain-Lee, ER Barros, F Rauch, F Rauch, FH Glorieux, Francis H. Glorieux, Frank Rauch, I Grafe, Jay R. Shapiro, JC Marini, JC Marini, JD Hald, Jeff Krischer, JM Tanner, K Graff, L Zeitlin, LA Dimeglio, Mahim Jain, Mary Mullins, Melanie Pepin, MG Seikaly, Michael B. Bober, Michaela Durigova, MS Aglan, N Bishop, N Bishop, Peter A. Smith, Peter H. Byers, R Sakkers, RH Engelbert, RH Engelbert, RM Patel, Robert D. Steiner, RT Hamza, S Bellur, Sandesh C. S. Nagamani, Sunil Bellur, T Palomo, T Yang, Tracy Hart, U Vetter, V. Reid Sutton, Y Takeuchi   +56 more
core   +2 more sources

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