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

3

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.

4

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

5

C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.

Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. Among authors: scheers s. NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019. eCollection 2024 Oct. NAR Mol Med. 2024. PMID: 39669124 Free PMC article.

6

C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A.

Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, Mckeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. Among authors: scheers s. bioRxiv [Preprint]. 2024 Oct 29:2024.10.26.620312. doi: 10.1101/2024.10.26.620312. bioRxiv. 2024. Update in: NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019 PMID: 39569145 Free PMC article. Updated. Preprint.

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

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.

9

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

10

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

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