van Luijk R - Search Results

1

Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation.

Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF. Rooms L, et al. Among authors: van luijk r. Ann Genet. 2004 Jan-Mar;47(1):53-9. doi: 10.1016/j.anngen.2003.10.001. Ann Genet. 2004. PMID: 15050874

2

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, van Goethem G, Laridon A, Ceulemans B, Courtens W, Kooy RF. Rooms L, et al. Among authors: van luijk r. Clin Genet. 2006 Jan;69(1):58-64. doi: 10.1111/j.1399-0004.2005.00545.x. Clin Genet. 2006. PMID: 16451137

3

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Ceulemans B, Van Den Ende J, Van Bever Y, Kooy RF. Rooms L, et al. Among authors: van luijk r, van bever y, van den ende j. Hum Mutat. 2004 Jan;23(1):17-21. doi: 10.1002/humu.10300. Hum Mutat. 2004. PMID: 14695528

4

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF. van Bever Y, et al. Among authors: van luijk r. Am J Med Genet A. 2005 May 15;135(1):91-5. doi: 10.1002/ajmg.a.30695. Am J Med Genet A. 2005. PMID: 15822126 Review.

5

TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.

Rooms L, Reyniers E, Scheers S, van Luijk R, Wauters J, Van Aerschot L, Callaerts-Vegh Z, D'Hooge R, Mengus G, Davidson I, Courtens W, Kooy RF. Rooms L, et al. Among authors: van luijk r. Eur J Hum Genet. 2006 Oct;14(10):1090-6. doi: 10.1038/sj.ejhg.5201674. Epub 2006 Jun 14. Eur J Hum Genet. 2006. PMID: 16773126

6

A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.

Courtens W, Wuyts W, Scheers S, Van Luijk R, Reyniers E, Rooms L, Ceulemans B, Kooy F, Wauters J. Courtens W, et al. Among authors: van luijk r. Eur J Med Genet. 2006 Sep-Oct;49(5):402-13. doi: 10.1016/j.ejmg.2006.01.001. Epub 2006 Jan 30. Eur J Med Genet. 2006. PMID: 16488200 Review.

7

A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.

Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W. Courtens W, et al. Among authors: van luijk r. Clin Dysmorphol. 2007 Oct;16(4):231-9. doi: 10.1097/MCD.0b013e3282742303. Clin Dysmorphol. 2007. PMID: 17786114 Review.

8

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR. Suls A, et al. Among authors: van luijk r. Hum Mutat. 2006 Sep;27(9):914-20. doi: 10.1002/humu.20350. Hum Mutat. 2006. PMID: 16865694

9

The molecular basis of the folate-sensitive fragile site FRA11A at 11q13.

Debacker K, Winnepenninckx B, Longman C, Colgan J, Tolmie J, Murray R, van Luijk R, Scheers S, Fitzpatrick D, Kooy F. Debacker K, et al. Among authors: van luijk r. Cytogenet Genome Res. 2007;119(1-2):9-14. doi: 10.1159/000109612. Epub 2007 Dec 14. Cytogenet Genome Res. 2007. PMID: 18160775

10

FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage.

Debacker K, Winnepenninckx B, Ben-Porat N, FitzPatrick D, Van Luijk R, Scheers S, Kerem B, Frank Kooy R. Debacker K, et al. Among authors: van luijk r. J Med Genet. 2007 May;44(5):347-52. doi: 10.1136/jmg.2006.044628. J Med Genet. 2007. PMID: 17475918 Free PMC article.

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