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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: aaltonen la. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families.
Nyström-Lahti M, Sistonen P, Mecklin JP, Pylkkänen L, Aaltonen LA, Järvinen H, Weissenbach J, de la Chapelle A, Peltomäki P. Nyström-Lahti M, et al. Among authors: aaltonen la. Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):6054-8. doi: 10.1073/pnas.91.13.6054. Proc Natl Acad Sci U S A. 1994. PMID: 8016114 Free PMC article.
Genetic mapping of a locus predisposing to human colorectal cancer.
Peltomäki P, Aaltonen LA, Sistonen P, Pylkkänen L, Mecklin JP, Järvinen H, Green JS, Jass JR, Weber JL, Leach FS, et al. Peltomäki P, et al. Among authors: aaltonen la. Science. 1993 May 7;260(5109):810-2. doi: 10.1126/science.8484120. Science. 1993. PMID: 8484120
Clues to the pathogenesis of familial colorectal cancer.
Aaltonen LA, Peltomäki P, Leach FS, Sistonen P, Pylkkänen L, Mecklin JP, Järvinen H, Powell SM, Jen J, Hamilton SR, et al. Aaltonen LA, et al. Science. 1993 May 7;260(5109):812-6. doi: 10.1126/science.8484121. Science. 1993. PMID: 8484121
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA. Hemminki A, et al. Among authors: aaltonen la. Nature. 1998 Jan 8;391(6663):184-7. doi: 10.1038/34432. Nature. 1998. PMID: 9428765
438 results