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Page 1
Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation.
Aalberts JJ, Schuurman AG, Pals G, Hamel BJ, Bosman G, Hilhorst-Hofstee Y, Barge-Schaapveld DQ, Mulder BJ, van den Berg MP, van Tintelen JP. Aalberts JJ, et al. Among authors: van den berg mp, van tintelen jp. Neth Heart J. 2010 Feb;18(2):85-9. doi: 10.1007/BF03091743. Neth Heart J. 2010. PMID: 20200614 Free PMC article.
Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria.
Cox MG, van der Smagt JJ, Noorman M, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, Houweling AC, Loh P, Jordaens L, Arens Y, Cramer MJ, Doevendans PA, van Tintelen JP, Wilde AA, Hauer RN. Cox MG, et al. Among authors: van langen im, van der smagt jj, van tintelen jp. Circ Arrhythm Electrophysiol. 2010 Apr;3(2):126-33. doi: 10.1161/CIRCEP.109.927202. Epub 2010 Mar 9. Circ Arrhythm Electrophysiol. 2010. PMID: 20215590
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.
Otten E, Lekanne Dit Deprez RH, Weiss MM, van Slegtenhorst M, Joosten M, van der Smagt JJ, de Jonge N, Kerstjens-Frederikse WS, Roofthooft MT, Balk AH, van den Berg MP, Ruiter JS, van Tintelen JP. Otten E, et al. Among authors: van den berg mp, van slegtenhorst m, van der smagt jj, van tintelen jp. Neth Heart J. 2010 Oct;18(10):478-85. doi: 10.1007/BF03091819. Neth Heart J. 2010. PMID: 20978592 Free PMC article.
Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome.
Radonic T, de Witte P, Groenink M, de Bruin-Bon RA, Timmermans J, Scholte AJ, van den Berg MP, Baars MJ, van Tintelen JP, Kempers M, Zwinderman AH, Mulder BJ. Radonic T, et al. Among authors: van den berg mp, van tintelen jp. Clin Genet. 2011 Oct;80(4):346-53. doi: 10.1111/j.1399-0004.2011.01646.x. Epub 2011 Mar 31. Clin Genet. 2011. PMID: 21332468
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
Christiaans I, Birnie E, Bonsel GJ, Mannens MM, Michels M, Majoor-Krakauer D, Dooijes D, van Tintelen JP, van den Berg MP, Volders PG, Arens YH, van den Wijngaard A, Atsma DE, Helderman-van den Enden AT, Houweling AC, de Boer K, van der Smagt JJ, Hauer RN, Marcelis CL, Timmermans J, van Langen IM, Wilde AA. Christiaans I, et al. Among authors: van den berg mp, van langen im, van der smagt jj, van tintelen jp, van den wijngaard a. Eur Heart J. 2011 May;32(9):1161-70. doi: 10.1093/eurheartj/ehr092. Epub 2011 Apr 1. Eur Heart J. 2011. PMID: 21459882
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.
Cox MG, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, van den Wijngaard A, Houweling AC, Jongbloed JD, Jordaens L, Cramer MJ, Doevendans PA, de Bakker JM, Wilde AA, van Tintelen JP, Hauer RN. Cox MG, et al. Among authors: van langen im, van der smagt jj, van der zwaag pa, van den wijngaard a, van tintelen jp, van der werf c. Circulation. 2011 Jun 14;123(23):2690-700. doi: 10.1161/CIRCULATIONAHA.110.988287. Epub 2011 May 23. Circulation. 2011. PMID: 21606396
Inflammation aggravates disease severity in Marfan syndrome patients.
Radonic T, de Witte P, Groenink M, de Waard V, Lutter R, van Eijk M, Jansen M, Timmermans J, Kempers M, Scholte AJ, Hilhorst-Hofstee Y, van den Berg MP, van Tintelen JP, Pals G, Baars MJ, Mulder BJ, Zwinderman AH. Radonic T, et al. Among authors: van den berg mp, van eijk m, van tintelen jp. PLoS One. 2012;7(3):e32963. doi: 10.1371/journal.pone.0032963. Epub 2012 Mar 30. PLoS One. 2012. PMID: 22479353 Free PMC article.
Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Groeneweg JA, Ummels A, Mulder M, Bikker H, van der Smagt JJ, van Mil AM, Homfray T, Post JG, Elvan A, van der Heijden JF, Houweling AC, Jongbloed JD, Wilde AA, van Tintelen JP, Hauer RN, Dooijes D. Groeneweg JA, et al. Among authors: van der heijden jf, van mil am, van der smagt jj, van tintelen jp. Heart Rhythm. 2014 Nov;11(11):2010-7. doi: 10.1016/j.hrthm.2014.07.041. Epub 2014 Jul 31. Heart Rhythm. 2014. PMID: 25087486
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JD, Murray B, te Riele AS, van den Berg MP, Bikker H, Atsma DE, de Groot NM, Houweling AC, van der Heijden JF, Russell SD, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Calkins H, Hauer RN. Bhonsale A, et al. Among authors: van der heijden jf, van den berg mp, van veen ta, van tintelen jp. Eur Heart J. 2015 Apr 7;36(14):847-55. doi: 10.1093/eurheartj/ehu509. Epub 2015 Jan 23. Eur Heart J. 2015. PMID: 25616645
252 results