Engelen JJ - Search Results

1

Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion.

Poelmans G, Engelen JJ, Van Lent-Albrechts J, Smeets HJ, Schoenmakers E, Franke B, Buitelaar JK, Wuisman-Frerker M, Erens W, Steyaert J, Schrander-Stumpel C. Poelmans G, et al. Among authors: engelen jj. Am J Med Genet B Neuropsychiatr Genet. 2009 Jan 5;150B(1):140-7. doi: 10.1002/ajmg.b.30787. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18521840

2

XX male with sex reversal and a de novo 11;22 translocation.

Macville MV, Loneus WH, Marcus-Soekarman D, Huys EH, Schoenmakers EF, Schrank-Hacker A, Emanuel BS, Engelen JJ. Macville MV, et al. Among authors: engelen jj. Am J Med Genet A. 2006 Sep 15;140(18):1973-7. doi: 10.1002/ajmg.a.31397. Am J Med Genet A. 2006. PMID: 16894539 Free PMC article. No abstract available.

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: 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

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

Subtelomeric chromosome aberrations: still a lot to learn.

Moog U, Arens YH, van Lent-Albrechts JC, Huijts PE, Smeets EE, Schrander-Stumpel CT, Engelen JJ. Moog U, et al. Among authors: engelen jj. Clin Genet. 2005 Nov;68(5):397-407. doi: 10.1111/j.1399-0004.2005.00506.x. Clin Genet. 2005. PMID: 16207207

6

Strong variable clinical presentation in 3 patients with 7q terminal deletion.

Frints SG, Schrander-Stumpel CT, Schoenmakers EF, Engelen JJ, Reekers AB, Van den Neucker AM, Smeets E, Devlieger H, Fryns JP. Frints SG, et al. Among authors: engelen jj. Genet Couns. 1998;9(1):5-14. Genet Couns. 1998. PMID: 9555580

7

Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.

Engelen JJ, Loots WJ, Albrechts JC, Schrander-Stumpel CT, Dirckx R, Smeets HJ, Hamers AJ, Geraedts JP. Engelen JJ, et al. Genet Couns. 1999;10(2):123-32. Genet Couns. 1999. PMID: 10422004 Review.

8

An adult patient with a distal interstitial 14q deletion: clinical report and literature review.

Spruijt L, Van Der Blij-Philipsen M, Engelen JJ, Schrander-Stumpel CT. Spruijt L, et al. Among authors: engelen jj. Genet Couns. 2000;11(4):335-40. Genet Couns. 2000. PMID: 11140410

9

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

10

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

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