Transplantability and therapeutic effects of bone marrow-derived mesenchymalcells in children with osteogenesis imperfecta In principle, transplantation of mesenchymal progenitor cells would attenuate or possibly correct genetic disorders of bone, cartilage and muscle, but clin... EM Horwitz,DJ Prockop,LA...
retinal detachmentOsteogenesis imperfecta (OI) type VIII (OMIM: 610915) is a rare autosomal recessive disorder characterized by white sclerae, severe growth deficiency, and bone fragility. This condition results from pathogenic variants of P3H1, a gene that codes for P3H1, an important protein ...
They also demonstrate that a recently described technique for detecting single-base differences by carbodiimide modification of DNA heteroduplexes can be effectively employed to locate mutations in large genes. 展开 关键词: Humans Cells, Cultured Osteogenesis Imperfecta Fetal Death Carbodiimides Aspartic ...
Sparkes, Andrew C.Martos, DanielMaher, Anthony J.Sport Education & SocietySparkes, A. C., Martos-Garcia, D., & Maher, A. J. (2017). Me, osteogenesis imperfecta, and my classmates in physical edu- cation lessons: A case study of embodied pedagogy in action. Sport, Education and ...
Archiv für Pathologische Anatomie und Physiologie und für Klinische MedicinKRAUS, E. J. -- Osteogenesis imperfecta und endokrines System. Vir- chows Archiv fur pathologische Anatomie und Physiologie und fur Klinische Medizin. 274: 37-49: 1930....
Pharmacologic Treatment of Osteogenesis ImperfectaEric S. OrwollElizabeth Martin
/Orwoll ES, Martin E. Pharmacologic Treatment of Osteogenesis Imperfecta. In Shapiro JR, Byers PH, Glorieux FH, Sponsellor PD, editors. Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease, Amsterdam: Elsevier/Academic Press; 1 edition. 2013:519-25....
Me, osteogenesis imperfecta, and my classmates in physical education lessons: a case study of embodied pedagogy in actiondoi:10.1080/13573322.2017.1392939Andrew C. SparkesDaniel MartosAnthony J. MaherTaylor & Francis
O'Sullivan ES, van der Kamp S, Kilbane M & McKenna M. Osteogenesis imperfecta in adults: phenotypic characteristics and response to treatment in an Irish cohort. Irish Journal of Medical Science 2013 183 225-230. (doi:10.1007/s11845-013-0995-x)...
IntroductionOsteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations in WNT1 compromise activity ...