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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: vandeweyer g. 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.
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: vandeweyer g. 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
Balanced translocations in mental retardation.
Vandeweyer G, Kooy RF. Vandeweyer G, et al. Hum Genet. 2009 Jul;126(1):133-47. doi: 10.1007/s00439-009-0661-6. Epub 2009 Apr 5. Hum Genet. 2009. PMID: 19347365 Review.
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J. Bruno DL, et al. Among authors: vandeweyer g. J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906. J Med Genet. 2010. PMID: 20452996
73 results