de Die-Smulders C - Search Results

1

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.

2

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.

Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ. Moog U, et al. Clin Genet. 1994 Dec;46(6):423-9. doi: 10.1111/j.1399-0004.1994.tb04410.x. Clin Genet. 1994. PMID: 7889659 Review.

3

Partial trisomy and monosomy 8p due to inversion duplication.

Engelen JJ, de Die-Smulders CE, Fryns JP, Hoovers JM, Albrechts JC, Loots WJ, Jacobs ME, Hamers AJ. Engelen JJ, et al. Clin Genet. 1994 Apr;45(4):203-7. doi: 10.1111/j.1399-0004.1994.tb04024.x. Clin Genet. 1994. PMID: 8062440

4

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE, Engelen JJ, Fryns JP, Curfs PM, Oostra BA. Meijer H, et al. Hum Mol Genet. 1994 Apr;3(4):615-20. doi: 10.1093/hmg/3.4.615. Hum Mol Genet. 1994. PMID: 8069307

5

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.

6

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.

Engelen JJ, de Die-Smulders CE, Sijstermans JM, Meers LE, Albrechts JC, Hamers AJ. Engelen JJ, et al. J Med Genet. 1995 Oct;32(10):792-5. doi: 10.1136/jmg.32.10.792. J Med Genet. 1995. PMID: 8558557 Free PMC article.

7

Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.

de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, Govaerts LC, de Vries B, Vles JS, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns JP. de Die-Smulders CE, et al. Am J Med Genet. 1995 Nov 20;59(3):369-74. doi: 10.1002/ajmg.1320590318. Am J Med Genet. 1995. PMID: 8599364 Review.

8

11Q duplication in a patient with Pitt-Rogers-Danks phenotype.

de Die-Smulders CE, Engelen JJ. de Die-Smulders CE, et al. Am J Med Genet. 1996 Dec 2;66(1):116-7. doi: 10.1002/(SICI)1096-8628(19961202)66:1<116::AID-AJMG30>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8957528 No abstract available.

9

Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion.

Chandler KE, de Die-Smulders CE, Engelen JJ, Schrander JJ. Chandler KE, et al. Eur J Pediatr. 1997 Aug;156(8):636-8. doi: 10.1007/s004310050681. Eur J Pediatr. 1997. PMID: 9266197

10

Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH.

Martini E, von Bergh AR, Coonen E, de Die-Smulders CE, Hopman AH, Ramaekers FC, Geraedts JP. Martini E, et al. Hum Genet. 1998 Feb;102(2):157-65. doi: 10.1007/s004390050670. Hum Genet. 1998. PMID: 9521583

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