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Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C. van Diemen CC, et al. Among authors: van der velde jk, van ravenswaaij arts cm, van langen im. Pediatrics. 2017 Oct;140(4):e20162854. doi: 10.1542/peds.2016-2854. Pediatrics. 2017. PMID: 28939701 Clinical Trial.
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
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
Desmin-related myopathy.
van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP. van Spaendonck-Zwarts KY, et al. Among authors: van der kooi aj, van den berg mp, van hessem l, van langen im, van tintelen jp. Clin Genet. 2011 Oct;80(4):354-66. doi: 10.1111/j.1399-0004.2010.01512.x. Epub 2010 Jul 21. Clin Genet. 2011. PMID: 20718792 Review.
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
van Spaendonck-Zwarts KY, van Rijsingen IA, van den Berg MP, Lekanne Deprez RH, Post JG, van Mil AM, Asselbergs FW, Christiaans I, van Langen IM, Wilde AA, de Boer RA, Jongbloed JD, Pinto YM, van Tintelen JP. van Spaendonck-Zwarts KY, et al. Among authors: van rijsingen ia, van mil am, van den berg mp, van langen im, van tintelen jp. Eur J Heart Fail. 2013 Jun;15(6):628-36. doi: 10.1093/eurjhf/hft013. Epub 2013 Jan 24. Eur J Heart Fail. 2013. PMID: 23349452 Free article.
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
van Spaendonck-Zwarts KY, Posafalvi A, van den Berg MP, Hilfiker-Kleiner D, Bollen IA, Sliwa K, Alders M, Almomani R, van Langen IM, van der Meer P, Sinke RJ, van der Velden J, Van Veldhuisen DJ, van Tintelen JP, Jongbloed JD. van Spaendonck-Zwarts KY, et al. Among authors: van den berg mp, van der meer p, van langen im, van der velden j, van tintelen jp, van veldhuisen dj. Eur Heart J. 2014 Aug 21;35(32):2165-73. doi: 10.1093/eurheartj/ehu050. Epub 2014 Feb 20. Eur Heart J. 2014. PMID: 24558114
Participation in interdisciplinary meetings on genetic diagnostics (NGS).
Koole T, van Burgsteden L, Harms P; 5GPM-team; van Diemen CC, van Langen IM. Koole T, et al. Among authors: van diemen cc, van langen im, van burgsteden l. Eur J Hum Genet. 2017 Oct;25(10):1099-1105. doi: 10.1038/ejhg.2017.111. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832563 Free PMC article.
131 results