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Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.
Otten E, Lekanne Dit Deprez RH, Weiss MM, van Slegtenhorst M, Joosten M, van der Smagt JJ, de Jonge N, Kerstjens-Frederikse WS, Roofthooft MT, Balk AH, van den Berg MP, Ruiter JS, van Tintelen JP. Otten E, et al. Among authors: van den berg mp, van slegtenhorst m, van der smagt jj, van tintelen jp. Neth Heart J. 2010 Oct;18(10):478-85. doi: 10.1007/BF03091819. Neth Heart J. 2010. PMID: 20978592 Free PMC article.
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: van haelst mm, van lieshout s, van haaften g, van der smagt jj, van harssel jj, van der heyden ma. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
Harakalova M, van der Smagt J, de Kovel CG, Van't Slot R, Poot M, Nijman IJ, Medic J, Joziasse I, Deckers J, Roos-Hesselink JW, Wessels MW, Baars HF, Weiss MM, Pals G, Golmard L, Jeunemaitre X, Lindhout D, Cuppen E, Baas AF. Harakalova M, et al. Eur J Hum Genet. 2013 May;21(5):487-93. doi: 10.1038/ejhg.2012.206. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968129 Free PMC article.
Monocarboxylate transporter 1 deficiency and ketone utilization.
van Hasselt PM, Ferdinandusse S, Monroe GR, Ruiter JP, Turkenburg M, Geerlings MJ, Duran K, Harakalova M, van der Zwaag B, Monavari AA, Okur I, Sharrard MJ, Cleary M, O'Connell N, Walker V, Rubio-Gozalbo ME, de Vries MC, Visser G, Houwen RH, van der Smagt JJ, Verhoeven-Duif NM, Wanders RJ, van Haaften G. van Hasselt PM, et al. Among authors: van der zwaag b, van haaften g, van der smagt jj. N Engl J Med. 2014 Nov 13;371(20):1900-7. doi: 10.1056/NEJMoa1407778. N Engl J Med. 2014. PMID: 25390740 Free article.
Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
Baas AF, Spiering W, Moll FL, Page-Christiaens L, Beenakkers IC, Dooijes D, Vonken EP, van der Smagt JJ, Knoers NV, Koenen SV, van Herwaarden JA, Sieswerda GT. Baas AF, et al. Among authors: van herwaarden ja, van der smagt jj. Am J Med Genet A. 2017 Feb;173(2):519-523. doi: 10.1002/ajmg.a.38033. Epub 2016 Nov 7. Am J Med Genet A. 2017. PMID: 28102592
Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies.
Sepehrkhouy S, Gho JMIH, van Es R, Harakalova M, de Jonge N, Dooijes D, van der Smagt JJ, Buijsrogge MP, Hauer RNW, Goldschmeding R, de Weger RA, Asselbergs FW, Vink A. Sepehrkhouy S, et al. Among authors: van es r, van der smagt jj. Heart Rhythm. 2017 Jul;14(7):1024-1032. doi: 10.1016/j.hrthm.2017.03.034. Epub 2017 Mar 30. Heart Rhythm. 2017. PMID: 28365402
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: van wijngaarden j, van spaendonck zwarts ky, van den berg mp, van der smagt jj, van tintelen jp. 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.
96 results