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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. 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.
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
Christiaans I, Birnie E, Bonsel GJ, Mannens MM, Michels M, Majoor-Krakauer D, Dooijes D, van Tintelen JP, van den Berg MP, Volders PG, Arens YH, van den Wijngaard A, Atsma DE, Helderman-van den Enden AT, Houweling AC, de Boer K, van der Smagt JJ, Hauer RN, Marcelis CL, Timmermans J, van Langen IM, Wilde AA. Christiaans I, et al. Among authors: arens yh. Eur Heart J. 2011 May;32(9):1161-70. doi: 10.1093/eurheartj/ehr092. Epub 2011 Apr 1. Eur Heart J. 2011. PMID: 21459882
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J. Paulussen AD, et al. Among authors: arens yh. Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9. Eur J Hum Genet. 2010. PMID: 20531442 Free PMC article.
Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014.
Heijligers M, van Montfoort A, Meijer-Hoogeveen M, Broekmans F, Bouman K, Homminga I, Dreesen J, Paulussen A, Engelen J, Coonen E, van der Schoot V, van Deursen-Luijten M, Muntjewerff N, Peeters A, van Golde R, van der Hoeven M, Arens Y, de Die-Smulders C. Heijligers M, et al. J Assist Reprod Genet. 2018 Nov;35(11):1995-2002. doi: 10.1007/s10815-018-1286-2. Epub 2018 Sep 5. J Assist Reprod Genet. 2018. PMID: 30187425 Free PMC article.
Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis.
Heijligers M, Peeters A, van Montfoort A, Nijsten J, Janssen E, Gunnewiek FK, de Rooy R, van Golde R, Coonen E, Meijer-Hoogeveen M, Broekmans F, van der Hoeven M, Arens Y, de Die-Smulders C. Heijligers M, et al. Fertil Steril. 2019 Jun;111(6):1151-1158. doi: 10.1016/j.fertnstert.2019.01.035. Epub 2019 Apr 17. Fertil Steril. 2019. PMID: 31005312 Free article.
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