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GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte CM, van Haeringen A, Hendriks YM, den Dunnen JT, Breuning MH, Kriek M, Santen GW. Almomani R, et al. Among authors: den dunnen jt. Am J Med Genet A. 2013 May;161A(5):973-6. doi: 10.1002/ajmg.a.35808. Epub 2013 Mar 13. Am J Med Genet A. 2013. PMID: 23494849
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.
Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A, Moorman AF, Altherr MR, den Dunnen JT. Stec I, et al. Among authors: den dunnen jt. Hum Mol Genet. 1998 Jul;7(7):1071-82. doi: 10.1093/hmg/7.7.1071. Hum Mol Genet. 1998. PMID: 9618163
Genomic imbalances in mental retardation.
Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KB, Nijhuis JV, Bakker B, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: den dunnen jt. J Med Genet. 2004 Apr;41(4):249-55. doi: 10.1136/jmg.2003.014308. J Med Genet. 2004. PMID: 15060096 Free PMC article.
Detecting copy number changes in genomic DNA: MAPH and MLPA.
White SJ, Breuning MH, den Dunnen JT. White SJ, et al. Among authors: den dunnen jt. Methods Cell Biol. 2004;75:751-68. doi: 10.1016/s0091-679x(04)75032-3. Methods Cell Biol. 2004. PMID: 15603451 No abstract available.
354 results