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326 results

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Page 1
Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.
Kaasinen E, Kuismin O, Rajamäki K, Ristolainen H, Aavikko M, Kondelin J, Saarinen S, Berta DG, Katainen R, Hirvonen EAM, Karhu A, Taira A, Tanskanen T, Alkodsi A, Taipale M, Morgunova E, Franssila K, Lehtonen R, Mäkinen M, Aittomäki K, Palotie A, Kurki MI, Pietiläinen O, Hilpert M, Saarentaus E, Niinimäki J, Junttila J, Kaikkonen K, Vahteristo P, Skoda RC, Seppänen MRJ, Eklund KK, Taipale J, Kilpivaara O, Aaltonen LA. Kaasinen E, et al. Among authors: makinen m. Nat Commun. 2019 Mar 19;10(1):1252. doi: 10.1038/s41467-019-09198-7. Nat Commun. 2019. PMID: 30890702 Free PMC article.
Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gündogdu S, De Menis E, Mäkinen MJ, Launonen V, Karhu A, Aaltonen LA. Vierimaa O, et al. Among authors: makinen mj. Science. 2006 May 26;312(5777):1228-30. doi: 10.1126/science.1126100. Science. 2006. PMID: 16728643
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.
Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Mäkinen MJ, Vierimaa O, Paschke R, Saeger W, van der Luijt RB, Sane T, Robledo M, De Menis E, Weil RJ, Wasik A, Zielinski G, Lucewicz O, Lubinski J, Launonen V, Vahteristo P, Aaltonen LA. Georgitsi M, et al. Among authors: makinen mj. Proc Natl Acad Sci U S A. 2007 Mar 6;104(10):4101-5. doi: 10.1073/pnas.0700004104. Epub 2007 Feb 28. Proc Natl Acad Sci U S A. 2007. PMID: 17360484 Free PMC article.
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: makinen mj. 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
Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas.
Georgitsi M, De Menis E, Cannavò S, Mäkinen MJ, Tuppurainen K, Pauletto P, Curtò L, Weil RJ, Paschke R, Zielinski G, Wasik A, Lubinski J, Vahteristo P, Karhu A, Aaltonen LA. Georgitsi M, et al. Among authors: makinen mj. Clin Endocrinol (Oxf). 2008 Oct;69(4):621-7. doi: 10.1111/j.1365-2265.2008.03266.x. Epub 2008 Apr 10. Clin Endocrinol (Oxf). 2008. PMID: 18410548
No evidence of RET germline mutations in familial pituitary adenoma.
Heliövaara E, Tuupanen S, Ahlsten M, Hodgson S, de Menis E, Kuismin O, Izatt L, McKinlay Gardner RJ, Gundogdu S, Lucassen A, Arola J, Tuomisto A, Mäkinen M, Karhu A, Aaltonen LA. Heliövaara E, et al. Among authors: makinen m. J Mol Endocrinol. 2010 Dec 21;46(1):1-8. doi: 10.1677/JME-10-0052. Print 2011 Feb. J Mol Endocrinol. 2010. PMID: 20956458
326 results