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An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
Hilhorst-Hofstee Y, Scholte AJ, Rijlaarsdam ME, van Haeringen A, Kroft LJ, Reijnierse M, Ruivenkamp CA, Versteegh MI, Pals G, Breuning MH. Hilhorst-Hofstee Y, et al. Among authors: rijlaarsdam me. Clin Genet. 2013 Apr;83(4):337-44. doi: 10.1111/j.1399-0004.2012.01931.x. Epub 2012 Aug 21. Clin Genet. 2013. PMID: 22803640
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Hilhorst-Hofstee Y, Rijlaarsdam ME, Scholte AJ, Swart-van den Berg M, Versteegh MI, van der Schoot-van Velzen I, Schäbitz HJ, Bijlsma EK, Baars MJ, Kerstjens-Frederikse WS, Giltay JC, Hamel BC, Breuning MH, Pals G. Hilhorst-Hofstee Y, et al. Among authors: rijlaarsdam me. Hum Mutat. 2010 Dec;31(12):E1915-27. doi: 10.1002/humu.21372. Hum Mutat. 2010. PMID: 20886638 Free PMC article.
The clinical spectrum of complete FBN1 allele deletions.
Hilhorst-Hofstee Y, Hamel BC, Verheij JB, Rijlaarsdam ME, Mancini GM, Cobben JM, Giroth C, Ruivenkamp CA, Hansson KB, Timmermans J, Moll HA, Breuning MH, Pals G. Hilhorst-Hofstee Y, et al. Among authors: rijlaarsdam me. Eur J Hum Genet. 2011 Mar;19(3):247-52. doi: 10.1038/ejhg.2010.174. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063442 Free PMC article.
Characterization and quantification of dynamic eccentric regurgitation of the left atrioventricular valve after atrioventricular septal defect correction with 4D Flow cardiovascular magnetic resonance and retrospective valve tracking.
Calkoen EE, Westenberg JJ, Kroft LJ, Blom NA, Hazekamp MG, Rijlaarsdam ME, Jongbloed MR, de Roos A, Roest AA. Calkoen EE, et al. Among authors: rijlaarsdam me. J Cardiovasc Magn Reson. 2015 Feb 19;17(1):18. doi: 10.1186/s12968-015-0122-4. J Cardiovasc Magn Reson. 2015. PMID: 25827288 Free PMC article.
34 results