Engelen JJ - Search Results

1

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: engelen jj. 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

2

Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.

Engelen JJ, Loneus WH, Vaes-Peeters G, Schrander-Stumpel CT. Engelen JJ, et al. Am J Med Genet A. 2005 Jan 30;132A(3):276-7. doi: 10.1002/ajmg.a.30457. Am J Med Genet A. 2005. PMID: 15578614

3

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. 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

4

Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers.

Arens YH, Engelen JJ, Govaerts LC, van Ravenswaay CM, Loneus WH, van Lent-Albrechts JC, van der Blij-Philipsen M, Hamers AJ, Schrander-Stumpel CT. Arens YH, et al. Among authors: engelen jj. Am J Med Genet A. 2004 Oct 1;130A(2):128-33. doi: 10.1002/ajmg.a.20568. Am J Med Genet A. 2004. PMID: 15372532

5

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. Among authors: engelen jj. Am J Med Genet. 1995 Nov 20;59(3):369-74. doi: 10.1002/ajmg.1320590318. Am J Med Genet. 1995. PMID: 8599364 Review.

6

Deletion of the long arm of chromosome 6: two new patients and literature review.

Evers LJ, Schrander-Stumpel CT, Engelen JJ, Hoorntje TM, Pulles-Heintzberger CF, Schrander JJ, Albrechts JC, Peters J, Fryns JP. Evers LJ, et al. Among authors: engelen jj. Clin Genet. 1996 Sep;50(3):138-44. doi: 10.1111/j.1399-0004.1996.tb02368.x. Clin Genet. 1996. PMID: 8946112

7

Mild phenotype in interstitial 4p deletion: another patient and review of the literature.

Van de Graaf G, Sijstermans JM, Engelen JJ, Schrander-Stumpel CT. Van de Graaf G, et al. Among authors: engelen jj. Genet Couns. 1997;8(1):13-8. Genet Couns. 1997. PMID: 9101273

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. Am J Med Genet. 1998 Feb 3;75(4):409-13. Am J Med Genet. 1998. PMID: 9482648

9

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: engelen jj. 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.

10

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. Among authors: engelen jj. 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

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