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Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
Jansweijer JA, Nieuwhof K, Russo F, Hoorntje ET, Jongbloed JD, Lekanne Deprez RH, Postma AV, Bronk M, van Rijsingen IA, de Haij S, Biagini E, van Haelst PL, van Wijngaarden J, van den Berg MP, Wilde AA, Mannens MM, de Boer RA, van Spaendonck-Zwarts KY, van Tintelen JP, Pinto YM. Jansweijer JA, et al. Among authors: lekanne deprez rh. Eur J Heart Fail. 2017 Apr;19(4):512-521. doi: 10.1002/ejhf.673. Epub 2016 Nov 3. Eur J Heart Fail. 2017. PMID: 27813223 Free article.
A complex double deletion in LMNA underlies progressive cardiac conduction disease, atrial arrhythmias, and sudden death.
Marsman RF, Bardai A, Postma AV, Res JC, Koopmann TT, Beekman L, van der Wal AC, Pinto YM, Lekanne Deprez RH, Wilde AA, Jordaens LJ, Bezzina CR. Marsman RF, et al. Among authors: lekanne deprez rh. Circ Cardiovasc Genet. 2011 Jun;4(3):280-7. doi: 10.1161/CIRCGENETICS.110.959221. Epub 2011 Mar 15. Circ Cardiovasc Genet. 2011. PMID: 21406687
A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding.
van de Meerakker JB, Christiaans I, Barnett P, Lekanne Deprez RH, Ilgun A, Mook OR, Mannens MM, Lam J, Wilde AA, Moorman AF, Postma AV. van de Meerakker JB, et al. Among authors: lekanne deprez rh. Biochim Biophys Acta. 2013 Apr;1833(4):833-9. doi: 10.1016/j.bbamcr.2012.11.003. Epub 2012 Nov 9. Biochim Biophys Acta. 2013. PMID: 23147248 Free article.
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: lekanne deprez rh. 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.
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.
Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CA, van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N. Weiss MM, et al. Among authors: lekanne deprez rh. Hum Mutat. 2013 Oct;34(10):1313-21. doi: 10.1002/humu.22368. Epub 2013 Aug 19. Hum Mutat. 2013. PMID: 23776008 Review.
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
Mook OR, Haagmans MA, Soucy JF, van de Meerakker JB, Baas F, Jakobs ME, Hofman N, Christiaans I, Lekanne Deprez RH, Mannens MM. Mook OR, et al. Among authors: lekanne deprez rh. J Med Genet. 2013 Sep;50(9):614-26. doi: 10.1136/jmedgenet-2012-101231. Epub 2013 Jun 19. J Med Genet. 2013. PMID: 23785128 Free PMC article.
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Hoorntje ET, van Spaendonck-Zwarts KY, Te Rijdt WP, Boven L, Vink A, van der Smagt JJ, Asselbergs FW, van Wijngaarden J, Hennekam EA, Pinto YM, Lekanne Deprez RH, Barge-Schaapveld DQCM, Bootsma M, Regieli J, Hoedemaekers YM, Jongbloed JDH, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: lekanne deprez rh. Eur J Heart Fail. 2018 Apr;20(4):803-806. doi: 10.1002/ejhf.1030. Epub 2017 Oct 23. Eur J Heart Fail. 2018. PMID: 29057560 Free PMC article. No abstract available.
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D. van Waning JI, et al. Among authors: lekanne deprez rh. J Am Coll Cardiol. 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. J Am Coll Cardiol. 2018. PMID: 29447731 Free article.
Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death: Single-Center Experience With 482 Families.
Tadros R, Nannenberg EA, Lieve KV, Škorić-Milosavljević D, Lahrouchi N, Lekanne Deprez RH, Vendrik J, Reckman YJ, Postema PG, Amin AS, Bezzina CR, Wilde AAM, Tan HL. Tadros R, et al. Among authors: lekanne deprez rh. JACC Clin Electrophysiol. 2017 Dec 11;3(12):1400-1408. doi: 10.1016/j.jacep.2017.04.005. Epub 2017 Jun 28. JACC Clin Electrophysiol. 2017. PMID: 29759671 Free article.
58 results