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Page 1
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.
Micha D, Guo DC, Hilhorst-Hofstee Y, van Kooten F, Atmaja D, Overwater E, Cayami FK, Regalado ES, van Uffelen R, Venselaar H, Faradz SM, Vriend G, Weiss MM, Sistermans EA, Maugeri A, Milewicz DM, Pals G, van Dijk FS. Micha D, et al. Among authors: van kooten f, van dijk fs, van uffelen r. Hum Mutat. 2015 Dec;36(12):1145-9. doi: 10.1002/humu.22854. Epub 2015 Sep 10. Hum Mutat. 2015. PMID: 26247899
Angiotensin II blockade in Marfan's syndrome.
van Dijk FS, Meijers-Heijboer H, Pals G. van Dijk FS, et al. N Engl J Med. 2008 Oct 16;359(16):1733; author reply 1733-4. N Engl J Med. 2008. PMID: 18927954 No abstract available.
Compound-heterozygous Marfan syndrome.
Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJ, Timmermans J, Pals G, Cobben JM. Van Dijk FS, et al. Eur J Med Genet. 2009 Jan-Feb;52(1):1-5. doi: 10.1016/j.ejmg.2008.11.004. Epub 2008 Nov 27. Eur J Med Genet. 2009. PMID: 19059503
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, Tan-Sindhunata GM, van Rijn RR, Meijers-Heijboer H, Cobben JM, Pals G. Van Dijk FS, et al. Among authors: van de kamp jm, van rijn rr. Eur J Hum Genet. 2009 Dec;17(12):1560-9. doi: 10.1038/ejhg.2009.75. Epub 2009 Jun 24. Eur J Hum Genet. 2009. PMID: 19550437 Free PMC article.
PPIB mutations cause severe osteogenesis imperfecta.
van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Högler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pals G. van Dijk FS, et al. Among authors: van roij mh. Am J Hum Genet. 2009 Oct;85(4):521-7. doi: 10.1016/j.ajhg.2009.09.001. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781681 Free PMC article.
Classification of Osteogenesis Imperfecta revisited.
Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM. Van Dijk FS, et al. Among authors: van rijn rr. Eur J Med Genet. 2010 Jan-Feb;53(1):1-5. doi: 10.1016/j.ejmg.2009.10.007. Epub 2009 Oct 28. Eur J Med Genet. 2010. PMID: 19878741 Review.
Complete COL1A1 allele deletions in osteogenesis imperfecta.
van Dijk FS, Huizer M, Kariminejad A, Marcelis CL, Plomp AS, Terhal PA, Meijers-Heijboer H, Weiss MM, van Rijn RR, Cobben JM, Pals G. van Dijk FS, et al. Among authors: van rijn rr. Genet Med. 2010 Nov;12(11):736-41. doi: 10.1097/GIM.0b013e3181f01617. Genet Med. 2010. PMID: 21113976 Free article.
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