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Page 1
Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.
van den Ouweland AM, Dinjens WN, Dorssers LC, van Veghel-Plandsoen MM, Brüggenwirth HT, Withagen-Hermans CJ, Collée JM, Joosse SA, Terlouw-Kromosoeto JN, Nederlof PM. van den Ouweland AM, et al. Among authors: withagen hermans cj. Genet Test Mol Biomarkers. 2009 Jun;13(3):399-406. doi: 10.1089/gtmb.2008.0155. Genet Test Mol Biomarkers. 2009. PMID: 19405878
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
van den Ouweland AM, Elfferich P, Zonnenberg BA, Arts WF, Kleefstra T, Nellist MD, Millan JM, Withagen-Hermans C, Maat-Kievit AJ, Halley DJ. van den Ouweland AM, et al. Eur J Hum Genet. 2011 Feb;19(2):157-63. doi: 10.1038/ejhg.2010.156. Epub 2010 Sep 29. Eur J Hum Genet. 2011. PMID: 20877415 Free PMC article.
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
Nellist M, Brouwer RW, Kockx CE, van Veghel-Plandsoen M, Withagen-Hermans C, Prins-Bakker L, Hoogeveen-Westerveld M, Mrsic A, van den Berg MM, Koopmans AE, de Wit MC, Jansen FE, Maat-Kievit AJ, van den Ouweland A, Halley D, de Klein A, van IJcken WF. Nellist M, et al. BMC Med Genet. 2015 Feb 25;16:10. doi: 10.1186/s12881-015-0155-4. BMC Med Genet. 2015. PMID: 25927202 Free PMC article.