de Die-Smulders CE - Search Results

1

Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.

Engelen JJ, de Die-Smulders CE, Dirckx R, Verhoeven WM, Tuinier S, Curfs LM, Hamers AJ. Engelen JJ, et al. Am J Med Genet. 2002 Apr 22;109(2):149-53. doi: 10.1002/ajmg.10287. Am J Med Genet. 2002. PMID: 11977164 Review.

2

Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes.

Marcus-Soekarman D, Hamers G, Velzeboer S, Nijhuis J, Loneus WH, Herbergs J, de Die-Smulders C, Schrander-Stumpel C, Engelen J. Marcus-Soekarman D, et al. Am J Med Genet A. 2004 Jan 30;124A(3):288-91. doi: 10.1002/ajmg.a.20403. Am J Med Genet A. 2004. PMID: 14708102

3

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.

4

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

5

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.

6

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.

7

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Plomp AS, Engelen JJ, Albrechts JC, de Die-Smulders CE, Hamers AJ. Plomp AS, et al. J Med Genet. 1998 Jul;35(7):604-8. doi: 10.1136/jmg.35.7.604. J Med Genet. 1998. PMID: 9678708 Free PMC article. Review.

8

Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.

Engelen JJ, De Die-Smulders CE, Vos PT, Meers LE, Albrechts JC, Hamers AJ. Engelen JJ, et al. Ann Genet. 1999;42(2):101-4. Ann Genet. 1999. PMID: 10434124 Review.

9

Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.

de Die-Smulders CE, Engelen JJ, Albrechts JC, Hamers GJ. de Die-Smulders CE, et al. Am J Med Genet. 1999 Oct 8;86(4):385-8. doi: 10.1002/(sici)1096-8628(19991008)86:4<385::aid-ajmg14>3.0.co;2-s. Am J Med Genet. 1999. PMID: 10494096

10

Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.

Moog U, Engelen JJ, Albrechts JC, Baars LG, de Die-Smulders CE. Moog U, et al. Am J Med Genet. 2000 Oct 2;94(4):306-10. doi: 10.1002/1096-8628(20001002)94:4<306::aid-ajmg8>3.0.co;2-v. Am J Med Genet. 2000. PMID: 11038444 Review.

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