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Page 1
Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.
Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA. Kaasinen E, et al. Among authors: aavikko m. Eur J Med Genet. 2014 Oct;57(10):543-51. doi: 10.1016/j.ejmg.2014.07.002. Epub 2014 Jul 29. Eur J Med Genet. 2014. PMID: 25078763
Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma.
Saarinen S, Aavikko M, Aittomäki K, Launonen V, Lehtonen R, Franssila K, Lehtonen HJ, Kaasinen E, Broderick P, Tarkkanen J, Bain BJ, Bauduer F, Ünal A, Swerdlow AJ, Cooke R, Mäkinen MJ, Houlston R, Vahteristo P, Aaltonen LA. Saarinen S, et al. Among authors: aavikko m. Blood. 2011 Jul 21;118(3):493-8. doi: 10.1182/blood-2011-03-341560. Epub 2011 May 11. Blood. 2011. PMID: 21562039 Free article.
MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.
Mäkinen N, Mehine M, Tolvanen J, Kaasinen E, Li Y, Lehtonen HJ, Gentile M, Yan J, Enge M, Taipale M, Aavikko M, Katainen R, Virolainen E, Böhling T, Koski TA, Launonen V, Sjöberg J, Taipale J, Vahteristo P, Aaltonen LA. Mäkinen N, et al. Among authors: aavikko m. Science. 2011 Oct 14;334(6053):252-5. doi: 10.1126/science.1208930. Epub 2011 Aug 25. Science. 2011. PMID: 21868628
Mutations in BRIP1 confer high risk of ovarian cancer.
Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, Sigurdsson A, Jonasdottir A, Besenbacher S, Lundin P, Stacey SN, Gudmundsson J, Magnusson OT, le Roux L, Orlygsdottir G, Helgadottir HT, Johannsdottir H, Gylfason A, Tryggvadottir L, Jonasson JG, de Juan A, Ortega E, Ramon-Cajal JM, García-Prats MD, Mayordomo C, Panadero A, Rivera F, Aben KK, van Altena AM, Massuger LF, Aavikko M, Kujala PM, Staff S, Aaltonen LA, Olafsdottir K, Bjornsson J, Kong A, Salvarsdottir A, Saemundsson H, Olafsson K, Benediktsdottir KR, Gulcher J, Masson G, Kiemeney LA, Mayordomo JI, Thorsteinsdottir U, Stefansson K. Rafnar T, et al. Among authors: aavikko m. Nat Genet. 2011 Oct 2;43(11):1104-7. doi: 10.1038/ng.955. Nat Genet. 2011. PMID: 21964575
KSHV-initiated notch activation leads to membrane-type-1 matrix metalloproteinase-dependent lymphatic endothelial-to-mesenchymal transition.
Cheng F, Pekkonen P, Laurinavicius S, Sugiyama N, Henderson S, Günther T, Rantanen V, Kaivanto E, Aavikko M, Sarek G, Hautaniemi S, Biberfeld P, Aaltonen L, Grundhoff A, Boshoff C, Alitalo K, Lehti K, Ojala PM. Cheng F, et al. Among authors: aavikko m. Cell Host Microbe. 2011 Dec 15;10(6):577-90. doi: 10.1016/j.chom.2011.10.011. Cell Host Microbe. 2011. PMID: 22177562 Free article.
Loss of SUFU function in familial multiple meningioma.
Aavikko M, Li SP, Saarinen S, Alhopuro P, Kaasinen E, Morgunova E, Li Y, Vesanen K, Smith MJ, Evans DG, Pöyhönen M, Kiuru A, Auvinen A, Aaltonen LA, Taipale J, Vahteristo P. Aavikko M, et al. Am J Hum Genet. 2012 Sep 7;91(3):520-6. doi: 10.1016/j.ajhg.2012.07.015. Am J Hum Genet. 2012. PMID: 22958902 Free PMC article.
Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.
Saarinen S, Kaasinen E, Karjalainen-Lindsberg ML, Vesanen K, Aavikko M, Katainen R, Taskinen M, Kytölä S, Leppä S, Hietala M, Vahteristo P, Aaltonen LA. Saarinen S, et al. Among authors: aavikko m. Blood. 2013 Apr 25;121(17):3428-30. doi: 10.1182/blood-2012-06-437210. Epub 2013 Mar 1. Blood. 2013. PMID: 23457195 Free article.
Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.
Turunen M, Spaeth JM, Keskitalo S, Park MJ, Kivioja T, Clark AD, Mäkinen N, Gao F, Palin K, Nurkkala H, Vähärautio A, Aavikko M, Kämpjärvi K, Vahteristo P, Kim CA, Aaltonen LA, Varjosalo M, Taipale J, Boyer TG. Turunen M, et al. Among authors: aavikko m. Cell Rep. 2014 May 8;7(3):654-60. doi: 10.1016/j.celrep.2014.03.047. Epub 2014 Apr 18. Cell Rep. 2014. PMID: 24746821 Free PMC article.
Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma.
Aavikko M, Kaasinen E, Nieminen JK, Byun M, Donner I, Mancuso R, Ferrante P, Clerici M, Brambilla L, Tourlaki A, Sarid R, Guttman-Yassky E, Taipale M, Morgunova E, Pekkonen P, Ojala PM, Pukkala E, Casanova JL, Vaarala O, Vahteristo P, Aaltonen LA. Aavikko M, et al. J Infect Dis. 2015 Jun 1;211(11):1842-51. doi: 10.1093/infdis/jiu667. Epub 2014 Dec 9. J Infect Dis. 2015. PMID: 25492914
61 results