128 References 1. Van Dijk FSS, Sillence DOO. Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 2014; 164: 1470–81. 2. Steiner RD, Basel D. COL1A1 / 2 Osteogenesis Imperfecta. GeneReviews® - NCBI Bookshelf 2005. 3. Malfait F, Paepe A De. Bleeding in the heritable connective tissue disorders: Mechanisms, diagnosis and treatment. Blood Rev 2009; 23. DOI:10.1016/j.blre.2009.06.001. 4. Boender J, Kruip MJHA, Leebeek FWG. A diagnostic approach to mild bleeding disorders. Journal of Thrombosis and Haemostasis 2016; 14: 1507–16. 5. Artoni A, Bassotti A, Marinelli B, et al. Hemostatic abnormalities in patients with ehlers-danlos syndrome. 2018; : 1–7. 6. Siegel BM, Friedman IA, Schwartz SO. Hemorrhagic disease in osteogenesis imperfecta Study of platelet functional defect. Am J Med 1957. 7. Hathaway WE, Solomons CC, Ott JE, Ott E. Platelet Function and Pyrophosphates in Osteogenesis Imperfecta. Blood 1972; 39. 8. Estes JW. Platelet size and function in the heritable disorders of connective tissue. Ann Intern Med 1968; 68: 1237–49. 9. Evensen SA, Myhre L, Stormorken H. Haemostatic studies in osteogenesis imperfecta. Scand J Haematol 1984; 33: 177–9. 10. Gooijer K, Rondeel JMM, van Dijk FS, Harsevoort AGJ, Janus GJM, Franken AAM. Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals. Br J Haematol 2019. DOI:10.1111/bjh.16097. 11. Heidsieck GM, Gooijer K, Harsevoort GJ, et al. Bleeding and bruising in Osteogenesis Imperfecta: Laboratory assessment in extreme scorings with a self bleeding assessment tool in 195 individuals with Osteogenesis Imperfecta. Submitted. 12. Deforest M, Grabell J, Albert S, et al. Generation and optimization of the self-administered bleeding assessment tool and its validation as a screening test for von Willebrand disease. Haemophilia 2015; 21: e384–8. 13. Punt MC, Blaauwgeers MW, Timmer MA, Welsing PMJ, Schutgens REG, van Galen KPM. Reliability and Feasibility of the Self-Administered ISTH-Bleeding Assessment Tool. TH Open 2019; 03. DOI:10.1055/s-0039-3400483.
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