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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G. Van Esch H, et al. Among authors: fryns jp. Am J Hum Genet. 2005 Sep;77(3):442-53. doi: 10.1086/444549. Epub 2005 Jul 29. Am J Hum Genet. 2005. PMID: 16080119 Free PMC article.
The East Flanders Prospective Twin Survey (EFPTS).
Derom CA, Vlietinck RF, Thiery EW, Leroy FO, Fryns JP, Derom RM. Derom CA, et al. Among authors: fryns jp. Twin Res Hum Genet. 2006 Dec;9(6):733-8. doi: 10.1375/183242706779462723. Twin Res Hum Genet. 2006. PMID: 17254399
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
Dimitrov B, Balikova I, de Ravel T, Van Esch H, De Smedt M, Baten E, Vermeesch JR, Bradinova I, Simeonov E, Devriendt K, Fryns JP, Debeer P. Dimitrov B, et al. Among authors: fryns jp. J Med Genet. 2011 Feb;48(2):98-104. doi: 10.1136/jmg.2010.079491. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068127
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Nowakowska BA, de Leeuw N, Ruivenkamp CA, Sikkema-Raddatz B, Crolla JA, Thoelen R, Koopmans M, den Hollander N, van Haeringen A, van der Kevie-Kersemaekers AM, Pfundt R, Mieloo H, van Essen T, de Vries BB, Green A, Reardon W, Fryns JP, Vermeesch JR. Nowakowska BA, et al. Among authors: fryns jp. Eur J Hum Genet. 2012 Feb;20(2):166-70. doi: 10.1038/ejhg.2011.157. Epub 2011 Sep 14. Eur J Hum Genet. 2012. PMID: 21915152 Free PMC article.
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