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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: sistonen p. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
Inherited susceptibility to uterine leiomyomas and renal cell cancer.
Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA. Launonen V, et al. Among authors: sistonen p. Proc Natl Acad Sci U S A. 2001 Mar 13;98(6):3387-92. doi: 10.1073/pnas.051633798. Epub 2001 Feb 27. Proc Natl Acad Sci U S A. 2001. PMID: 11248088 Free PMC article.
Little evidence for involvement of MLH3 in colorectal cancer predisposition.
Hienonen T, Laiho P, Salovaara R, Mecklin JP, Järvinen H, Sistonen P, Peltomäki P, Lehtonen R, Nupponen NN, Launonen V, Karhu A, Aaltonen LA. Hienonen T, et al. Among authors: sistonen p. Int J Cancer. 2003 Aug 20;106(2):292-6. doi: 10.1002/ijc.11218. Int J Cancer. 2003. PMID: 12800209 Free article.
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
Howe JR, Roth S, Ringold JC, Summers RW, Järvinen HJ, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA. Howe JR, et al. Among authors: sistonen p. Science. 1998 May 15;280(5366):1086-8. doi: 10.1126/science.280.5366.1086. Science. 1998. PMID: 9582123
Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.
Ylikorkala A, Avizienyte E, Tomlinson IP, Tiainen M, Roth S, Loukola A, Hemminki A, Johansson M, Sistonen P, Markie D, Neale K, Phillips R, Zauber P, Twama T, Sampson J, Järvinen H, Mäkelä TP, Aaltonen LA. Ylikorkala A, et al. Among authors: sistonen p. Hum Mol Genet. 1999 Jan;8(1):45-51. doi: 10.1093/hmg/8.1.45. Hum Mol Genet. 1999. PMID: 9887330
Low-level microsatellite instability in most colorectal carcinomas.
Laiho P, Launonen V, Lahermo P, Esteller M, Guo M, Herman JG, Mecklin JP, Järvinen H, Sistonen P, Kim KM, Shibata D, Houlston RS, Aaltonen LA. Laiho P, et al. Among authors: sistonen p. Cancer Res. 2002 Feb 15;62(4):1166-70. Cancer Res. 2002. PMID: 11861399
125 results