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197 results

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Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012.
Mersy E, Smits LJ, van Winden LA, de Die-Smulders CE; South-East Netherlands NIPT Consortium; Paulussen AD, Macville MV, Coumans AB, Frints SG. Mersy E, et al. Hum Reprod Update. 2013 Jul-Aug;19(4):318-29. doi: 10.1093/humupd/dmt001. Epub 2013 Feb 8. Hum Reprod Update. 2013. PMID: 23396607 Review.
Anencephaly in monozygotic twins and recurrence risk.
Frints SG, de Die-Smulders CE, Hasaart TH. Frints SG, et al. Prenat Diagn. 1998 Aug;18(8):867-9. doi: 10.1002/(sici)1097-0223(199808)18:8<867::aid-pd1366>3.0.co;2-e. Prenat Diagn. 1998. PMID: 9742584 No abstract available.
Holoprosencephaly: the Maastricht experience.
Moog U, De Die-Smulders CE, Schrander-Stumpel CT, Engelen JJ, Hamers AJ, Frints S, Fryns JP. Moog U, et al. Genet Couns. 2001;12(3):287-98. Genet Couns. 2001. PMID: 11693794
Non-invasive prenatal testing: ethical issues explored.
de Jong A, Dondorp WJ, de Die-Smulders CE, Frints SG, de Wert GM. de Jong A, et al. Eur J Hum Genet. 2010 Mar;18(3):272-7. doi: 10.1038/ejhg.2009.203. Epub 2009 Dec 2. Eur J Hum Genet. 2010. PMID: 19953123 Free PMC article.
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. 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.
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.
Verhagen JM, Schrander-Stumpel CT, Krapels IP, de Die-Smulders CE, van Lint FH, Willekes C, Weber JW, Gavilanes AW, Macville MV, Stegmann AP, Engelen JJ, Bakker J, Vos YJ, Frints SG. Verhagen JM, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e542-7. doi: 10.1016/j.ejmg.2011.06.005. Epub 2011 Jul 30. Eur J Med Genet. 2011. PMID: 21839187
Advances in prenatal screening: the ethical dimension.
de Jong A, Dondorp WJ, Frints SG, de Die-Smulders CE, de Wert GM. de Jong A, et al. Nat Rev Genet. 2011 Aug 18;12(9):657-63. doi: 10.1038/nrg3036. Nat Rev Genet. 2011. PMID: 21850045 Review.
PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.
Drüsedau M, Dreesen JC, Derks-Smeets I, Coonen E, van Golde R, van Echten-Arends J, Kastrop PM, Blok MJ, Gómez-García E, Geraedts JP, Smeets HJ, de Die-Smulders CE, Paulussen AD. Drüsedau M, et al. Eur J Hum Genet. 2013 Dec;21(12):1361-8. doi: 10.1038/ejhg.2013.50. Epub 2013 Mar 27. Eur J Hum Genet. 2013. PMID: 23531862 Free PMC article.
197 results