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Page 1
Large genomic rearrangements and germline epimutations in Lynch syndrome.
Gylling A, Ridanpää M, Vierimaa O, Aittomäki K, Avela K, Kääriäinen H, Laivuori H, Pöyhönen M, Sallinen SL, Wallgren-Pettersson C, Järvinen HJ, Mecklin JP, Peltomäki P. Gylling A, et al. Among authors: vierimaa o. Int J Cancer. 2009 May 15;124(10):2333-40. doi: 10.1002/ijc.24230. Int J Cancer. 2009. PMID: 19173287 Free article.
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L, Vierimaa O, Pollard PJ, Tomlinson IP, Björck E, Aaltonen LA, Launonen V. Ahvenainen T, et al. Among authors: vierimaa o. Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. doi: 10.1016/j.cancergencyto.2008.01.010. Cancer Genet Cytogenet. 2008. PMID: 18503824
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
Vahteristo P, Koski TA, Näätsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Björck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittomäki K, Aaltonen LA, Launonen V, Lehtonen R. Vahteristo P, et al. Among authors: vierimaa o. Fam Cancer. 2010 Jun;9(2):245-51. doi: 10.1007/s10689-009-9312-2. Fam Cancer. 2010. PMID: 20091131
Increased risk of cancer in patients with fumarate hydratase germline mutation.
Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA, Vierimaa O, Aittomäki K, Pukkala E, Launonen V, Aaltonen LA. Lehtonen HJ, et al. Among authors: vierimaa o. J Med Genet. 2006 Jun;43(6):523-6. doi: 10.1136/jmg.2005.036400. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155190 Free PMC article.
Large genomic deletions in AIP in pituitary adenoma predisposition.
Georgitsi M, Heliövaara E, Paschke R, Kumar AV, Tischkowitz M, Vierimaa O, Salmela P, Sane T, De Menis E, Cannavò S, Gündogdu S, Lucassen A, Izatt L, Aylwin S, Bano G, Hodgson S, Koch CA, Karhu A, Aaltonen LA. Georgitsi M, et al. Among authors: vierimaa o. J Clin Endocrinol Metab. 2008 Oct;93(10):4146-51. doi: 10.1210/jc.2008-1003. Epub 2008 Jul 15. J Clin Endocrinol Metab. 2008. PMID: 18628514
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
Georgitsi M, Raitila A, Karhu A, van der Luijt RB, Aalfs CM, Sane T, Vierimaa O, Mäkinen MJ, Tuppurainen K, Paschke R, Gimm O, Koch CA, Gündogdu S, Lucassen A, Tischkowitz M, Izatt L, Aylwin S, Bano G, Hodgson S, De Menis E, Launonen V, Vahteristo P, Aaltonen LA. Georgitsi M, et al. Among authors: vierimaa o. J Clin Endocrinol Metab. 2007 Aug;92(8):3321-5. doi: 10.1210/jc.2006-2843. Epub 2007 May 22. J Clin Endocrinol Metab. 2007. PMID: 17519308
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Among authors: vierimaa o. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
24 results