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Page 1
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: hearle n. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
Mutational analysis of CD28 in coeliac disease.
Popat S, Hearle N, Bevan S, Hogberg L, Stenhammar L, Houlston RS. Popat S, et al. Among authors: hearle n. Scand J Gastroenterol. 2002 May;37(5):536-9. doi: 10.1080/00365520252903071. Scand J Gastroenterol. 2002. PMID: 12059054
Analysis of the CTLA4 gene in Swedish coeliac disease patients.
Popat S, Hearle N, Wixey J, Hogberg L, Bevan S, Lim W, Stenhammar L, Houlston RS. Popat S, et al. Among authors: hearle n. Scand J Gastroenterol. 2002 Jan;37(1):28-31. doi: 10.1080/003655202753387310. Scand J Gastroenterol. 2002. PMID: 11843030
Role of MC1R variants in uveal melanoma.
Hearle N, Humphreys J, Damato BE, Wort R, Talaban R, Wixey J, Green H, Easton DF, Houlston RS. Hearle N, et al. Br J Cancer. 2003 Nov 17;89(10):1961-5. doi: 10.1038/sj.bjc.6601358. Br J Cancer. 2003. PMID: 14612910 Free PMC article.
Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease.
Popat S, Hearle N, Hogberg L, Braegger CP, O'Donoghue D, Falth-Magnusson K, Holmes GK, Howdle PD, Jenkins H, Johnston S, Kennedy NP, Kumar PJ, Logan RF, Marsh MN, Mulder CJ, Torinsson Naluai A, Sjoberg K, Stenhammar L, Walters JR, Jewell DP, Houlston RS. Popat S, et al. Among authors: hearle n. Ann Hum Genet. 2002 Mar;66(Pt 2):125-37. doi: 10.1017/S0003480002001021. Ann Hum Genet. 2002. PMID: 12174216 Review.
Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.
Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, Eccles D, Talbot I, Neale K, Lim AG, O'Donohue J, Donaldson A, Macdonald RC, Young ID, Robinson MH, Lee PW, Stoodley BJ, Tomlinson I, Alderson D, Holbrook AG, Vyas S, Swarbrick ET, Lewis AA, Phillips RK, Houlston RS. Lim W, et al. Among authors: hearle n. Br J Cancer. 2003 Jul 21;89(2):308-13. doi: 10.1038/sj.bjc.6601030. Br J Cancer. 2003. PMID: 12865922 Free PMC article.
Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.
Hearle NC, Rudd MF, Lim W, Murday V, Lim AG, Phillips RK, Lee PW, O'donohue J, Morrison PJ, Norman A, Hodgson SV, Lucassen A, Houlston RS. Hearle NC, et al. J Med Genet. 2006 Apr;43(4):e15. doi: 10.1136/jmg.2005.036830. J Med Genet. 2006. PMID: 16582077 Free PMC article.
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