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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: lamlum h. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJ, Neale K, Phillips RK, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IP, Heinimann K. Sieber OM, et al. Among authors: lamlum h. Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):2954-8. doi: 10.1073/pnas.042699199. Epub 2002 Feb 26. Proc Natl Acad Sci U S A. 2002. PMID: 11867715 Free PMC article.
Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.
Sieber OM, Heinimann K, Gorman P, Lamlum H, Crabtree M, Simpson CA, Davies D, Neale K, Hodgson SV, Roylance RR, Phillips RK, Bodmer WF, Tomlinson IP. Sieber OM, et al. Among authors: lamlum h. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16910-5. doi: 10.1073/pnas.012679099. Epub 2002 Dec 16. Proc Natl Acad Sci U S A. 2002. PMID: 12486240 Free PMC article.
APC mutations are sufficient for the growth of early colorectal adenomas.
Lamlum H, Papadopoulou A, Ilyas M, Rowan A, Gillet C, Hanby A, Talbot I, Bodmer W, Tomlinson I. Lamlum H, et al. Proc Natl Acad Sci U S A. 2000 Feb 29;97(5):2225-8. doi: 10.1073/pnas.040564697. Proc Natl Acad Sci U S A. 2000. PMID: 10681434 Free PMC article.
Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.
Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S, Cuthbert-Heavens D, Hodgson S, Phillips R, Tomlinson I. Groves C, et al. Among authors: lamlum h. Am J Pathol. 2002 Jun;160(6):2055-61. doi: 10.1016/S0002-9440(10)61155-8. Am J Pathol. 2002. PMID: 12057910 Free PMC article.
44 results