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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: hoedemaekers ym. 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.
The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.
Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt JJ, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJ, Dooijes D, Majoor-Krakauer DF. Hoedemaekers YM, et al. Circ Cardiovasc Genet. 2010 Jun;3(3):232-9. doi: 10.1161/CIRCGENETICS.109.903898. Epub 2010 Jun 8. Circ Cardiovasc Genet. 2010. PMID: 20530761
Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history.
Nannenberg EA, Michels M, Christiaans I, Majoor-Krakauer D, Hoedemaekers YM, van Tintelen JP, Lombardi MP, ten Cate FJ, Schinkel AF, Tijssen JG, van Langen IM, Wilde AA, Sijbrands EJ. Nannenberg EA, et al. Among authors: hoedemaekers ym. J Am Coll Cardiol. 2011 Nov 29;58(23):2406-14. doi: 10.1016/j.jacc.2011.07.044. J Am Coll Cardiol. 2011. PMID: 22115648 Free article.
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.
Milano A, Vermeer AM, Lodder EM, Barc J, Verkerk AO, Postma AV, van der Bilt IA, Baars MJ, van Haelst PL, Caliskan K, Hoedemaekers YM, Le Scouarnec S, Redon R, Pinto YM, Christiaans I, Wilde AA, Bezzina CR. Milano A, et al. Among authors: hoedemaekers ym. J Am Coll Cardiol. 2014 Aug 26;64(8):745-56. doi: 10.1016/j.jacc.2014.05.045. J Am Coll Cardiol. 2014. PMID: 25145517 Free article.
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: hoedemaekers ym. 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.
Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees.
van den Heuvel LM, Huisinga MJ, Hoedemaekers YM, Baas AF, Plantinga M, Henneman L, van Tintelen JP, Smets EMA, Christiaans I. van den Heuvel LM, et al. Among authors: hoedemaekers ym. Eur J Hum Genet. 2019 Sep;27(9):1341-1350. doi: 10.1038/s41431-019-0410-9. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053782 Free PMC article.
Dyssynchronopathy Can be a Manifestation of Heritable Cardiomyopathy.
Te Rijdt WP, Hoedemaekers YM, Jongbloed JDH, Damman K, van der Zwaag PA, de Boer RA, Maass AH, van den Berg MP. Te Rijdt WP, et al. Among authors: hoedemaekers ym. Circ Genom Precis Med. 2019 May;12(5):e002528. doi: 10.1161/CIRCGEN.119.002528. Circ Genom Precis Med. 2019. PMID: 31112419 No abstract available.
31 results