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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.
The fragile X syndrome: no evidence for any recent mutations.
Smits AP, Dreesen JC, Post JG, Smeets DF, de Die-Smulders C, Spaans-van der Bijl T, Govaerts LC, Warren ST, Oostra BA, van Oost BA. Smits AP, et al. J Med Genet. 1993 Feb;30(2):94-6. doi: 10.1136/jmg.30.2.94. J Med Genet. 1993. PMID: 8445628 Free PMC article.
The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes.
Zwamborn-Hanssen AM, Bijlsma JB, Hennekam EF, Lindhout D, Beemer FA, Bakker E, Kleijer WJ, de France HF, de Die-Smulders CE, Duran M, van Gennip AH, van Mens JT, Pearson PL, Mantel G, Verhage RE, Geraedts JP. Zwamborn-Hanssen AM, et al. Am J Med Genet. 1997 Jun 27;70(4):444-7. doi: 10.1002/(sici)1096-8628(19970627)70:4<444::aid-ajmg20>3.0.co;2-g. Am J Med Genet. 1997. PMID: 9182789
Paternal transmission of congenital myotonic dystrophy.
de Die-Smulders CE, Smeets HJ, Loots W, Anten HB, Mirandolle JF, Geraedts JP, Höweler CJ. de Die-Smulders CE, et al. J Med Genet. 1997 Nov;34(11):930-3. doi: 10.1136/jmg.34.11.930. J Med Genet. 1997. PMID: 9391889 Free PMC article.
Age and causes of death in adult-onset myotonic dystrophy.
de Die-Smulders CE, Höweler CJ, Thijs C, Mirandolle JF, Anten HB, Smeets HJ, Chandler KE, Geraedts JP. de Die-Smulders CE, et al. Brain. 1998 Aug;121 ( Pt 8):1557-63. doi: 10.1093/brain/121.8.1557. Brain. 1998. PMID: 9712016
Preimplantation genetic diagnosis of spinal muscular atrophy.
Dreesen JC, Bras M, de Die-Smulders C, Dumoulin JC, Cobben JM, Evers JL, Smeets HJ, Geraedts JP. Dreesen JC, et al. Mol Hum Reprod. 1998 Sep;4(9):881-5. doi: 10.1093/molehr/4.9.881. Mol Hum Reprod. 1998. PMID: 9783849
196 results