4 resultados para Ostéogenèse


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Osteogenesis imperfecta (OI) is a rare genetic disease. Today we are able to propose an adapted and efficient management to the patients with this rare disorder (and their families) thanks to a strong collaboration of clinicians and researchers. Recent knowledge regarding the genetics of OI permits an accurate diagnosis of the specific type of OI and its own molecular mechanism, a genetic counseling for family planning and prenatal diagnosis, and in addition more targeted therapeutic options. A specific support with re-education for patients with OI is necessary and efficient. To optimize patient care, a multidisciplinary consultation is proposed at the CHUV, moreover a web site is available for patients, families and therapists: www.infomaladiesrares.ch

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Thesis written in co-mentorship with director: Nelly Huynh; co-directors: Frank Rauch and Jean-Marc Retrouvey; collaborators: Clarice Nishio, Duy-Dat Vu and Nathalie Alos

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Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

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Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.