Engelen JJ - Search Results

1

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

2

Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH.

de Pater J, Van der Sijs-Bos C, Prins M, Derks J, Albrechts J, Engelen J. de Pater J, et al. Eur J Med Genet. 2006 Jul-Aug;49(4):306-12. doi: 10.1016/j.ejmg.2005.12.006. Epub 2006 Jan 19. Eur J Med Genet. 2006. PMID: 16461028

3

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

4

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.

5

Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers.

Engelen JJ, Arens YH, Gondrie ET, Alofs MG, Loneus WH, Hamers AJ. Engelen JJ, et al. Am J Med Genet A. 2003 Apr 30;118A(3):287-9. doi: 10.1002/ajmg.a.10203. Am J Med Genet A. 2003. PMID: 12673661

6

Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotype.

Engelen JJ, Moog U, Weber J, Haagen AA, van Uum CM, Hamers AJ. Engelen JJ, et al. Am J Med Genet A. 2003 Jun 15;119A(3):356-9. doi: 10.1002/ajmg.a.10266. Am J Med Genet A. 2003. PMID: 12784305

7

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

8

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

9

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

10

Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH.

Wanderley HY, Schrander-Stumpel CT, Visser MO, Van Maanen-Op Het Roodt EA, Loneus WH, Engelen JJ. Wanderley HY, et al. Among authors: engelen jj. Genet Couns. 2005;16(3):277-82. Genet Couns. 2005. PMID: 16259325

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