Albrechts JC - Search Results

1

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. Among authors: albrechts jc. 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.

2

Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation.

Engelen JJ, Schrander-Stumpel CT, Theunissen PM, Vaes-Peeters G, Albrechts JC, Hamers AJ. Engelen JJ, et al. Among authors: albrechts jc. Am J Med Genet A. 2003 Apr 30;118A(3):274-8. doi: 10.1002/ajmg.a.10267. Am J Med Genet A. 2003. PMID: 12673659

3

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.

Spruijt L, Engelen JJ, Bruinen-Smeijsters IP, Albrechts JC, Schrander J, Schrander-Stumpel CT. Spruijt L, et al. Among authors: albrechts jc. Am J Med Genet A. 2004 Sep 1;129A(3):312-5. doi: 10.1002/ajmg.a.30185. Am J Med Genet A. 2004. PMID: 15326635

4

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. Among authors: albrechts jc. Clin Genet. 1994 Dec;46(6):423-9. doi: 10.1111/j.1399-0004.1994.tb04410.x. Clin Genet. 1994. PMID: 7889659 Review.

5

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. Among authors: albrechts jc. Clin Genet. 1994 Apr;45(4):203-7. doi: 10.1111/j.1399-0004.1994.tb04024.x. Clin Genet. 1994. PMID: 8062440

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. Among authors: albrechts jc. 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

Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH.

Engelen JJ, Loots WJ, Albrechts JC, Motoh PC, Fryns JP, Hamers AJ, Geraedts JP. Engelen JJ, et al. Among authors: albrechts jc. J Med Genet. 1996 Jul;33(7):562-6. doi: 10.1136/jmg.33.7.562. J Med Genet. 1996. PMID: 8818941 Free PMC article.

8

Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.

Engelen JJ, Loots WJ, Albrechts JC, Plomp AS, van der Meer SB, Vles JS, Hamers GJ, Geraedts JP. Engelen JJ, et al. Among authors: albrechts jc. Am J Med Genet. 1998 Feb 3;75(4):409-13. Am J Med Genet. 1998. PMID: 9482648

9

A simple and efficient method for microdissection and microFISH.

Engelen JJ, Albrechts JC, Hamers GJ, Geraedts JP. Engelen JJ, et al. Among authors: albrechts jc. J Med Genet. 1998 Apr;35(4):265-8. doi: 10.1136/jmg.35.4.265. J Med Genet. 1998. PMID: 9598716 Free PMC article.

10

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. Among authors: albrechts jc. 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.

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