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A multiplex PCR predictor for aCGH success of FFPE samples.
van Beers EH, Joosse SA, Ligtenberg MJ, Fles R, Hogervorst FB, Verhoef S, Nederlof PM. van Beers EH, et al. Among authors: joosse sa. Br J Cancer. 2006 Jan 30;94(2):333-7. doi: 10.1038/sj.bjc.6602889. Br J Cancer. 2006. PMID: 16333309 Free PMC article.
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA; kConFab; Nederlof PM, Goldgar DE, Tavtigian SV, Monteiro AN, Ladias JA, Foulkes WD. Tischkowitz M, et al. Among authors: joosse sa. Eur J Hum Genet. 2008 Jul;16(7):820-32. doi: 10.1038/ejhg.2008.13. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285836 Free PMC article.
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer.
Koski TA, Lehtonen HJ, Jee KJ, Ninomiya S, Joosse SA, Vahteristo P, Kiuru M, Karhu A, Sammalkorpi H, Vanharanta S, Lehtonen R, Edgren H, Nederlof PM, Hietala M, Aittomäki K, Herva R, Knuutila S, Aaltonen LA, Launonen V. Koski TA, et al. Among authors: joosse sa. Genes Chromosomes Cancer. 2009 Jul;48(7):544-51. doi: 10.1002/gcc.20663. Genes Chromosomes Cancer. 2009. PMID: 19373782
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: joosse sa. Genet Test Mol Biomarkers. 2009 Jun;13(3):399-406. doi: 10.1089/gtmb.2008.0155. Genet Test Mol Biomarkers. 2009. PMID: 19405878
64 results