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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: pals g. 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.
Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.
Yeung KK, Bogunovic N, Keekstra N, Beunders AA, Pals J, van der Kuij K, Overwater E, Wisselink W, Blankensteijn JD, van Hinsbergh VW, Musters RJ, Pals G, Micha D, Zandieh-Doulabi B. Yeung KK, et al. Among authors: pals g, pals j. Hum Mutat. 2017 Apr;38(4):439-450. doi: 10.1002/humu.23174. Epub 2017 Jan 27. Hum Mutat. 2017. PMID: 28074631
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: pals g. 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.
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: pals g. Hum Mutat. 2015 Dec;36(12):1145-9. doi: 10.1002/humu.22854. Epub 2015 Sep 10. Hum Mutat. 2015. PMID: 26247899
Collagen transport and related pathways in Osteogenesis Imperfecta.
Claeys L, Storoni S, Eekhoff M, Elting M, Wisse L, Pals G, Bravenboer N, Maugeri A, Micha D. Claeys L, et al. Among authors: pals g. Hum Genet. 2021 Aug;140(8):1121-1141. doi: 10.1007/s00439-021-02302-2. Epub 2021 Jun 24. Hum Genet. 2021. PMID: 34169326 Free PMC article. Review.
221 results