Results 101 to 110 of about 27,998 (224)

Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I

Patient Safety in Surgery, 2008
Osteogenesis imperfecta is a genetic disorder characterized by increased susceptibility to fractures and vascular injuries due to connective tissue fragility.
Morgan Steven J, Johnson Jeffrey L, Ziran Navid M, Smith Wade R   +3 more
doaj   +1 more source

Osteogénesis imperfecta

Anales de la Facultad de Medicina, 2014
Este trabajo tiene por objeto el estudio de una afección ósea rara tanto en nuestro medio como en otros países, y fue realizado en un lapso de tres años, mediante observación sistemática de 4 pacientes internados en el Hospital del Niño, a los que se ha agregado otros 4 enfermos que han sido tomados de la Estadística de este nosocomio, entre los años ...
openaire   +4 more sources

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta [PDF]

, 2016
BackgroundThe genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin.
Binh, Ho Duy, Kandla, Ivo, Koks, Sulev, Maasalu, Katre, Martson, Aare, Prans, Ele, Reimann, Ene, Zhytnik, Lidiia   +7 more
core   +1 more source

Quantitative Assessment of Children with Osteogenesis Imperfecta [PDF]

, 2016
Assessments of children with Osteogenesis Imperfecta (OI) are typically limited to a physical exam and observations from a clinician during a hospital visit.
Caudill, Angela, Flanagan, Ann, Graf, Adam, Harris, Gerald F., Krzak, Joseph, Smith, Peter   +5 more
core   +1 more source

Mesenchymal Differentiation and Organ Distribution of Established Human Stromal Cell Lines in NOD/SCID Mice [PDF]

, 2001
Two human stromal cell lines were established previously from bone marrow-derived primary long-term cultures by immortalization using the SV40 large T antigen and cellular cloning. After irradiation, the fibroblast-like cell lines L87/4 and L88/5 support
Huss, Ralf, Meissner, Petra, Moosmann, Sabine, Sagebiel, Sabine, Thalmeier, Karin, Wiest, Irmgard   +5 more
core   +1 more source

Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies

Prenatal Diagnosis, Volume 46, Issue 4, Page 598-602, April 2026.
Edouard Leyne, Jelena Martinovic, Peter Kamenický, Agnès Linglart, Julien Saada, Alexandra Benachi, Alexandre J. Vivanti, Jérôme Bouligand   +7 more
wiley   +1 more source

Phenotypic spectrum in osteogenesis imperfecta due to mutations in TMEM38B: unravelling a complex cellular defect. [PDF]

, 2017
Context: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. Objectives: Clinical and bone material phenotype description and osteoblast differentiation studies.
Alsaedi, A., Balasubramanian, M., Cabral, W.A., Cole, T., Crabtree, N.J., Fratzl-Zelman, N., Gamsjaeger, S., Högler, W., Klaushofer, K., Marini, J.C., Paschalis, E.P., Roschger, P., Saraff, V., Sargent, B.M., Shaw, N.J., Stewart, S., Titheradge, H., Vogt, J., Webb, E.A.   +18 more
core   +2 more sources

Dentinogenesis imperfecta: A case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2008
Dentinogenesis imperfecta is an autosomal dominant disorder of tooth development characterized by the presence of opalescent dentin, resulting in a dusky blue to brownish discoloration of the teeth.
Subramaniam P, Mathew S, Sugnani S
doaj  

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   +1 more source

Osteogenesis Imperfecta [PDF]

Archives of Disease in Childhood, 1956
J G, DAVEL, T, FICHARDT, D, VAN DER SPUY
openaire   +2 more sources