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Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.
van den Wijngaard A, Volders P, Van Tintelen JP, Jongbloed JD, van den Berg MP, Lekanne Deprez RH, Mannens MM, Hofmann N, Slegtenhorst M, Dooijes D, Michels M, Arens Y, Jongbloed R, Smeets BJ. van den Wijngaard A, et al. Among authors: dooijes d. Neth Heart J. 2011 Aug;19(7-8):344-51. doi: 10.1007/s12471-011-0135-z. Neth Heart J. 2011. PMID: 21533915 Free PMC article.
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF. Monroe GR, et al. Among authors: dooijes d. Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25845371
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: dooijes d. 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
Truncating Titin (TTN) Variants in Chemotherapy-Induced Cardiomyopathy.
Linschoten M, Teske AJ, Baas AF, Vink A, Dooijes D, Baars HF, Asselbergs FW. Linschoten M, et al. Among authors: dooijes d. J Card Fail. 2017 Jun;23(6):476-479. doi: 10.1016/j.cardfail.2017.03.003. Epub 2017 Mar 14. J Card Fail. 2017. PMID: 28315399 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: dooijes d. 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.
Mortality Risk Associated With Truncating Founder Mutations in Titin.
Jansen M, Baas AF, van Spaendonck-Zwarts KY, Ummels AS, van den Wijngaard A, Jongbloed JDH, van Slegtenhorst MA, Lekanne Deprez RH, Wessels MW, Michels M, Houweling AC, Hoorntje ET, Helderman-van den Enden PJTM, Barge-Schaapveld DQCM, Peter van Tintelen J, van den Berg MP, Wilde AAM, Ploos van Amstel HK, Hennekam EAM, Asselbergs FW, Sijbrands EJG, Dooijes D. Jansen M, et al. Among authors: dooijes d. Circ Genom Precis Med. 2019 May;12(5):e002436. doi: 10.1161/CIRCGEN.118.002436. Circ Genom Precis Med. 2019. PMID: 31112426
UNRAVEL: big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking.
Sammani A, Jansen M, Linschoten M, Bagheri A, de Jonge N, Kirkels H, van Laake LW, Vink A, van Tintelen JP, Dooijes D, Te Riele ASJM, Harakalova M, Baas AF, Asselbergs FW. Sammani A, et al. Among authors: dooijes d. Neth Heart J. 2019 Sep;27(9):426-434. doi: 10.1007/s12471-019-1288-4. Neth Heart J. 2019. PMID: 31134468 Free PMC article.
133 results