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Page 1
Genetic diagnosis through whole-exome sequencing.
van der Zwaag PA, Jongbloed JD, van Tintelen JP. van der Zwaag PA, et al. Among authors: van tintelen jp. N Engl J Med. 2014 Mar 13;370(11):1067. doi: 10.1056/NEJMc1315908. N Engl J Med. 2014. PMID: 24620873 No abstract available.
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.
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, van Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, Veenstra-Knol HE, Saffitz JE, Hofstra RM, van den Berg MP. van Tintelen JP, et al. Among authors: van spaendonck zwarts ky, van den heuvel f, van den berg mp, van gelder ic, van den wijngaard a. Heart Rhythm. 2009 Nov;6(11):1574-83. doi: 10.1016/j.hrthm.2009.07.041. Epub 2009 Jul 28. Heart Rhythm. 2009. PMID: 19879535
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Bhuiyan ZA, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, Nelen M, Schouten M, Jongbloed R, Cox MG, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJ, van den Berg MP, Mannens MM, Hauer RN, Wilde AA, van Tintelen JP. Bhuiyan ZA, et al. Among authors: van der smagt j, van wolferen m, van den berg mp, van gelder ic, van tintelen jp. Circ Cardiovasc Genet. 2009 Oct;2(5):418-27. doi: 10.1161/CIRCGENETICS.108.839829. Epub 2009 Aug 1. Circ Cardiovasc Genet. 2009. PMID: 20031616
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.
Otten E, Asimaki A, Maass A, van Langen IM, van der Wal A, de Jonge N, van den Berg MP, Saffitz JE, Wilde AA, Jongbloed JD, van Tintelen JP. Otten E, et al. Among authors: van der wal a, van den berg mp, van langen im, van tintelen jp. Heart Rhythm. 2010 Aug;7(8):1058-64. doi: 10.1016/j.hrthm.2010.04.023. Epub 2010 Apr 24. Heart Rhythm. 2010. PMID: 20423733
Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.
van Spaendonck-Zwarts KY, van Tintelen JP, van Veldhuisen DJ, van der Werf R, Jongbloed JD, Paulus WJ, Dooijes D, van den Berg MP. van Spaendonck-Zwarts KY, et al. Among authors: van den berg mp, van tintelen jp, van der werf r, van veldhuisen dj. Circulation. 2010 May 25;121(20):2169-75. doi: 10.1161/CIRCULATIONAHA.109.929646. Epub 2010 May 10. Circulation. 2010. PMID: 20458010
242 results