Reyniers E - Search Results

1

FRA2A is a CGG repeat expansion associated with silencing of AFF3.

Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Chilamakuri CS, Morrison H, Vandeweyer G, Reyniers E, Douglas E, Thompson G, Haan E, Gecz J, Fitzpatrick DR, Kooy RF. Metsu S, et al. Among authors: reyniers e. PLoS Genet. 2014 Apr 24;10(4):e1004242. doi: 10.1371/journal.pgen.1004242. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24763282 Free PMC article.

2

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: reyniers e. Ann Genet. 2004 Jan-Mar;47(1):53-9. doi: 10.1016/j.anngen.2003.10.001. Ann Genet. 2004. PMID: 15050874

3

Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.

Rooms L, Reyniers E, Kooy RF. Rooms L, et al. Among authors: reyniers e. Hum Mutat. 2005 Jun;25(6):513-24. doi: 10.1002/humu.20185. Hum Mutat. 2005. PMID: 15880643 Review.

4

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.

Rooms L, Reyniers E, Kooy RF. Rooms L, et al. Among authors: reyniers e. Hum Mutat. 2007 Feb;28(2):177-82. doi: 10.1002/humu.20421. Hum Mutat. 2007. PMID: 16991117

5

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.

Rooms L, Vandeweyer G, Reyniers E, van Mol K, de Canck I, Van der Aa N, Rossau R, Kooy RF. Rooms L, et al. Among authors: reyniers e. Am J Med Genet A. 2011 Feb;155A(2):343-8. doi: 10.1002/ajmg.a.33810. Epub 2011 Jan 14. Am J Med Genet A. 2011. PMID: 21271651

6

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF. Vandeweyer G, et al. Among authors: reyniers e. Am J Hum Genet. 2012 Jun 8;90(6):1071-8. doi: 10.1016/j.ajhg.2012.04.020. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608712 Free PMC article.

7

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Van der Aa N, Vandeweyer G, Reyniers E, Kenis S, Dom L, Mortier G, Rooms L, Kooy RF. Van der Aa N, et al. Among authors: reyniers e. Autism Res. 2012 Aug;5(4):277-81. doi: 10.1002/aur.1240. Epub 2012 Jun 11. Autism Res. 2012. PMID: 22689534

8

Family MRX9 revisited: further evidence for locus heterogeneity in MRX.

Winnepenninckx B, Errijgers V, Reyniers E, De Deyn PP, Abidi FE, Schwartz CE, Kooy RF. Winnepenninckx B, et al. Among authors: reyniers e. Am J Med Genet. 2002 Sep 15;112(1):17-22. doi: 10.1002/ajmg.10663. Am J Med Genet. 2002. PMID: 12239714

9

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: reyniers e. 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.

10

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF. Van der Aa N, et al. Among authors: reyniers e. Eur J Med Genet. 2009 Mar-Jun;52(2-3):94-100. doi: 10.1016/j.ejmg.2009.02.006. Epub 2009 Feb 26. Eur J Med Genet. 2009. PMID: 19249392

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