de Die-Smulders CEM - Search Results

1

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Verdonschot JAJ, Hellebrekers DMEI, van Empel VPM, Heijligers M, de Munnik S, Coonen E, Dreesen JCMF, van den Wijngaard A, Brunner HG, Zamani Esteki M, Heymans SRB, de Die-Smulders CEM, Paulussen ADC. Verdonschot JAJ, et al. Among authors: de die smulders cem. Circ Genom Precis Med. 2024 Apr;17(2):e004416. doi: 10.1161/CIRCGEN.123.004416. Epub 2024 Mar 22. Circ Genom Precis Med. 2024. PMID: 38516780 Free PMC article.

2

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

de Die-Smulders CE, Höweler CJ, Mirandolle JF, Brunner HG, Hovers V, Brüggenwirth H, Smeets HJ, Geraedts JP. de Die-Smulders CE, et al. J Med Genet. 1994 Aug;31(8):595-601. doi: 10.1136/jmg.31.8.595. J Med Genet. 1994. PMID: 7815415 Free PMC article.

3

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.

4

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

5

[Genetic diagnosis of IVF embryos: preliminary results from 'preimplantation genetic diagnoses' in the Netherlands].

de Die-Smulders CE, Geraedts JP, Dreesen JC, Coonen E, Land JA. de Die-Smulders CE, et al. Ned Tijdschr Geneeskd. 1998 Nov 7;142(45):2441-4. Ned Tijdschr Geneeskd. 1998. PMID: 10028321 Dutch.

6

Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings.

Coonen E, Martini E, Dumoulin JC, Hollanders-Crombach HT, de Die-Smulders C, Geraedts JP, Hopman AH, Evers JL. Coonen E, et al. Mol Hum Reprod. 2000 Mar;6(3):199-206. doi: 10.1093/molehr/6.3.199. Mol Hum Reprod. 2000. PMID: 10694265

7

Another liveborn after preimplantation genetic diagnosis for retinoblastoma.

Dommering CJ, Moll AC, Imhof SM, de Die-Smulders CE, Coonen E. Dommering CJ, et al. Am J Ophthalmol. 2004 Dec;138(6):1088-9. doi: 10.1016/j.ajo.2004.07.048. Am J Ophthalmol. 2004. PMID: 15629325 No abstract available.

8

[Results from 10 years of preimplantation-genetic diagnostics in The Netherlands].

de Die-Smulders CE, Land JA, Dreesen JC, Coonen E, Evers JL, Geraedts JP. de Die-Smulders CE, et al. Ned Tijdschr Geneeskd. 2004 Dec 11;148(50):2491-6. Ned Tijdschr Geneeskd. 2004. PMID: 15638197 Dutch.

9

Validation of preimplantation genetic diagnosis by PCR analysis: genotype comparison of the blastomere and corresponding embryo, implications for clinical practice.

Dreesen J, Drüsedau M, Smeets H, de Die-Smulders C, Coonen E, Dumoulin J, Gielen M, Evers J, Herbergs J, Geraedts J. Dreesen J, et al. Mol Hum Reprod. 2008 Oct;14(10):573-9. doi: 10.1093/molehr/gan052. Epub 2008 Sep 18. Mol Hum Reprod. 2008. PMID: 18805801

10

Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?

van Rijsingen IA, Hermans-van Ast JF, Arens YH, Schalla SM, de Die-Smulders CE, van den Wijngaard A, Pinto YM. van Rijsingen IA, et al. Neth Heart J. 2009 Dec;17(12):458-63. doi: 10.1007/BF03086304. Neth Heart J. 2009. PMID: 20087448 Free PMC article.

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