Scheers S - Search Results

1

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: scheers s. Hum Mutat. 2006 Sep;27(9):914-20. doi: 10.1002/humu.20350. Hum Mutat. 2006. PMID: 16865694

2

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: scheers s. Hum Mutat. 2004 Jan;23(1):17-21. doi: 10.1002/humu.10300. Hum Mutat. 2004. PMID: 14695528

3

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: scheers s. 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.

4

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: scheers s. 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

5

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: scheers s. 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.

6

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: scheers s. J Med Genet. 2007 May;44(5):347-52. doi: 10.1136/jmg.2006.044628. J Med Genet. 2007. PMID: 17475918 Free PMC article.

7

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.

Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, Kooy RF. Van Dijck A, et al. Among authors: scheers s. Eur J Med Genet. 2015 Oct;58(10):503-8. doi: 10.1016/j.ejmg.2015.08.004. Epub 2015 Aug 29. Eur J Med Genet. 2015. PMID: 26327614

8

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: scheers s. Cytogenet Genome Res. 2007;119(1-2):9-14. doi: 10.1159/000109612. Epub 2007 Dec 14. Cytogenet Genome Res. 2007. PMID: 18160775

9

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: scheers s. Clin Dysmorphol. 2007 Oct;16(4):231-9. doi: 10.1097/MCD.0b013e3282742303. Clin Dysmorphol. 2007. PMID: 17786114 Review.

10

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: scheers s. Clin Genet. 2006 Jan;69(1):58-64. doi: 10.1111/j.1399-0004.2005.00545.x. Clin Genet. 2006. PMID: 16451137

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