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Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA. Koolen DA, et al. Among authors: merkx gf. J Med Genet. 2004 Dec;41(12):892-9. doi: 10.1136/jmg.2004.023671. J Med Genet. 2004. PMID: 15591274 Free PMC article.
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.
de Bruijn DR, van Dijk AH, Pfundt R, Hoischen A, Merkx GF, Gradek GA, Lybæk H, Stray-Pedersen A, Brunner HG, Houge G. de Bruijn DR, et al. Among authors: merkx gf. Mol Syndromol. 2010 Feb;1(1):46-57. doi: 10.1159/000280290. Epub 2010 Feb 12. Mol Syndromol. 2010. PMID: 20648246 Free PMC article.
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Among authors: merkx gf. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.
Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15).
Eleveld MJ, Bodmer D, Merkx G, Siepman A, Sprenger SH, Weterman MA, Ligtenberg MJ, Kamp J, Stapper W, Jeuken JW, Smeets D, Smits A, Geurts Van Kessel A. Eleveld MJ, et al. Among authors: merkx g. Genes Chromosomes Cancer. 2001 May;31(1):23-32. doi: 10.1002/gcc.1114. Genes Chromosomes Cancer. 2001. PMID: 11284032
57 results