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Page 1
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
Akinrinade O, Heliö T, Lekanne Deprez RH, Jongbloed JDH, Boven LG, van den Berg MP, Pinto YM, Alastalo TP, Myllykangas S, Spaendonck-Zwarts KV, van Tintelen JP, van der Zwaag PA, Koskenvuo J. Akinrinade O, et al. Among authors: van den berg mp, van der zwaag pa, van tintelen jp. Sci Rep. 2019 Mar 11;9(1):4093. doi: 10.1038/s41598-019-39911-x. Sci Rep. 2019. PMID: 30858397 Free PMC article.
Letter regarding the article: "R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy" by Valenzise et al.
van der Zwaag PA, Jongbloed JD, van den Berg MP, Jonkman MF, van Tintelen JP. van der Zwaag PA, et al. Among authors: van den berg mp, van tintelen jp. Eur J Med Genet. 2009 Jul-Aug;52(4):277. doi: 10.1016/j.ejmg.2009.01.003. Epub 2009 Feb 3. Eur J Med Genet. 2009. PMID: 19450441 No abstract available.
Haplotype sharing test maps genes for familial cardiomyopathies.
van der Zwaag PA, van Tintelen JP, Gerbens F, Jongbloed JD, Boven LG, van der Smagt JJ, van der Roest WP, van Langen IM, Bikker H, Hauer RN, van den Berg MP, Hofstra RM, te Meerman GJ. van der Zwaag PA, et al. Among authors: van der roest wp, van den berg mp, van langen im, van der smagt jj, van tintelen jp. Clin Genet. 2011 May;79(5):459-67. doi: 10.1111/j.1399-0004.2010.01472.x. Clin Genet. 2011. PMID: 20573160
Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia.
van der Zwaag PA, Cox MG, van der Werf C, Wiesfeld AC, Jongbloed JD, Dooijes D, Bikker H, Jongbloed R, Suurmeijer AJ, van den Berg MP, Hofstra RM, Hauer RN, Wilde AA, van Tintelen JP. van der Zwaag PA, et al. Among authors: van den berg mp, van tintelen jp, van der werf c. Neth Heart J. 2010 Dec;18(12):583-91. doi: 10.1007/s12471-010-0839-5. Neth Heart J. 2010. PMID: 21301620 Free PMC article.
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
Counsel the genotype, treat the phenotype.
van der Zwaag PA, van Tintelen JP. van der Zwaag PA, et al. Among authors: van tintelen jp. Eur J Heart Fail. 2011 Nov;13(11):1159-60. doi: 10.1093/eurjhf/hfr131. Epub 2011 Sep 29. Eur J Heart Fail. 2011. PMID: 21965524 Free article. No abstract available.
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, van den Berg MP, van Tintelen JP. van der Zwaag PA, et al. Among authors: van rijsingen ia, van lochem lt, van spaendonck zwarts ky, van den berg mp, van tintelen jp, van veldhuisen dj. Eur J Heart Fail. 2012 Nov;14(11):1199-207. doi: 10.1093/eurjhf/hfs119. Epub 2012 Jul 20. Eur J Heart Fail. 2012. PMID: 22820313 Free PMC article.
Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.
van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, Bikker H, Hauer RN, Doevendans PA. van der Smagt JJ, et al. Among authors: van langen im, van der zwaag pa, van tintelen jp. Cardiology. 2012;123(3):181-9. doi: 10.1159/000342717. Epub 2012 Nov 7. Cardiology. 2012. PMID: 23147395
Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?
Groeneweg JA, van der Zwaag PA, Jongbloed JD, Cox MG, Vreeker A, de Boer RA, van der Heijden JF, van Veen TA, McKenna WJ, van Tintelen JP, Dooijes D, Hauer RN. Groeneweg JA, et al. Among authors: van der heijden jf, van der zwaag pa, van veen ta, van tintelen jp. Heart Rhythm. 2013 Apr;10(4):548-59. doi: 10.1016/j.hrthm.2012.12.020. Epub 2012 Dec 25. Heart Rhythm. 2013. PMID: 23270881
60 results