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Page 1
Dominant-negative ALK2 allele associates with congenital heart defects.
Smith KA, Joziasse IC, Chocron S, van Dinther M, Guryev V, Verhoeven MC, Rehmann H, van der Smagt JJ, Doevendans PA, Cuppen E, Mulder BJ, Ten Dijke P, Bakkers J. Smith KA, et al. Among authors: joziasse ic. Circulation. 2009 Jun 23;119(24):3062-9. doi: 10.1161/CIRCULATIONAHA.108.843714. Epub 2009 Jun 8. Circulation. 2009. PMID: 19506109
ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.
Joziasse IC, Smith KA, Chocron S, van Dinther M, Guryev V, van de Smagt JJ, Cuppen E, Ten Dijke P, Mulder BJ, Maslen CL, Reshey B, Doevendans PA, Bakkers J. Joziasse IC, et al. Eur J Hum Genet. 2011 Apr;19(4):389-93. doi: 10.1038/ejhg.2010.224. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248739 Free PMC article.
Genes in congenital heart disease: atrioventricular valve formation.
Joziasse IC, van de Smagt JJ, Smith K, Bakkers J, Sieswerda GJ, Mulder BJ, Doevendans PA. Joziasse IC, et al. Basic Res Cardiol. 2008 May;103(3):216-27. doi: 10.1007/s00395-008-0713-4. Epub 2008 Apr 7. Basic Res Cardiol. 2008. PMID: 18392768 Review.
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
Harakalova M, van der Smagt J, de Kovel CG, Van't Slot R, Poot M, Nijman IJ, Medic J, Joziasse I, Deckers J, Roos-Hesselink JW, Wessels MW, Baars HF, Weiss MM, Pals G, Golmard L, Jeunemaitre X, Lindhout D, Cuppen E, Baas AF. Harakalova M, et al. Eur J Hum Genet. 2013 May;21(5):487-93. doi: 10.1038/ejhg.2012.206. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968129 Free PMC article.