Huisartsenbrochure het Marfan syndroom

Marfan syndroom 11 Literatuurlijst 1. Arslan-Kirchner M, von Kodolitsch Y, Schmidtke J. The importance of Genetic Testing in the Clinical Management of patients with Marfan Syndrome and Related Disorders. Dtsch Arztebl Int 2008;105(27):483-91. 2. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62(4):417-26. 3. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J HumGenet 2007;81(3):454-66. 4. ter Heide H, Schrander-Stumpel CT, Pals G, Delhaas T. Neonatal Marfan syndrome: clinical report and review of the literature. Clin Dysmorphol 2005;14(2):81-4. 5. Hilhorst-Hofstee Y, Kroft LJ, Pals G, van Vugt JP, Overweg-PlandsoenWC. 6. Intracranial hypertension in 2 children with marfan syndrome. Child Neurol 2008;23(8):954-5. 7. Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005;366:1965-76. 8. Keane, MG, Pyeritz, R E. Medical Management of Marfan Syndrome. Circulation 2008;117(21):2802-13. 9. von Kodolitsch Y, Robinson PN. Marfan syndrome: an update of genetics, medical and surgical management. Heart 2007;93(6):755-60. 10. Mulder BJM, Gewillig M, Pieper PG, Meijboom FJ, Witsenburg M, Hamer JPM. Hoofdstuk 44 Aangeboren hartziekten 44.15 Marfansyndroom in: van der Wall EE, van de Werf F, Zijlstra F (red.). Cardiologie. 2008 Bohn Stafleu van Loghum, Houten. ISBN 9031348295, 9789031348299. 11. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC. Dysregulation of TGF-ß activation contributes to pathogenesis in Marfan syndrome. Nature genetics 2003;33:407-11. 12. de Nijs Bik H, Schrander JJP, Schrander-Stumpel CTRM. Klinische Genetica (33): het Marfansyndroom. Patient Care 2002;29(11):33-9. 13. Ramirez F, Dietz HC. Marfan syndrome: frommolecular pathogenesis to clinical treatment. Curr Opin Genet Dev 2007;17(3):252-8. Erratum in: Curr Opin Genet Dev 2007;17(4):367. 14. Richtlijn Marfan, Vereniging Klinische Genetica Nederland; 2103. 15. Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A. 16. Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M. The molecular genetics of Marfan syndrome and related disorders. J Med Genet 2006;43(10):769-87. 17. Stuart AG, Williams A. Marfan’s syndrome and the heart. Arch Dis Child 2007;92(4):351-6. 18. Vis JC, Timmermans J, Post MC, Budts W, Schepens MAAM, Thijs V, Schonewille WJ, de Bie RMA, Plokker HWM, Tijssen JGP, Mulder BJM. Increased prevalence of migraine in Marfan syndrome. Int J Cardiol 2008; Epub ahead of print).

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