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A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Yokoyama S, Woods SL, Boyle GM, Aoude LG, MacGregor S, Zismann V, Gartside M, Cust AE, Haq R, Harland M, Taylor JC, Duffy DL, Holohan K, Dutton-Regester K, Palmer JM, Bonazzi V, Stark MS, Symmons J, Law MH, Schmidt C, Lanagan C, O'Connor L, Holland EA, Schmid H, Maskiell JA, Jetann J, Ferguson M, Jenkins MA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Whiteman DC, Pharoah PD, Easton DF, Dunning AM, Newton-Bishop JA, Montgomery GW, Martin NG, Mann GJ, Bishop DT, Tsao H, Trent JM, Fisher DE, Hayward NK, Brown KM. Yokoyama S, et al. Among authors: macgregor s. Nature. 2011 Nov 13;480(7375):99-103. doi: 10.1038/nature10630. Nature. 2011. PMID: 22080950 Free PMC article.
Common sequence variants on 20q11.22 confer melanoma susceptibility.
Brown KM, Macgregor S, Montgomery GW, Craig DW, Zhao ZZ, Iyadurai K, Henders AK, Homer N, Campbell MJ, Stark M, Thomas S, Schmid H, Holland EA, Gillanders EM, Duffy DL, Maskiell JA, Jetann J, Ferguson M, Stephan DA, Cust AE, Whiteman D, Green A, Olsson H, Puig S, Ghiorzo P, Hansson J, Demenais F, Goldstein AM, Gruis NA, Elder DE, Bishop JN, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Martin NG, Trent JM, Mann GJ, Hayward NK. Brown KM, et al. Among authors: macgregor s. Nat Genet. 2008 Jul;40(7):838-40. doi: 10.1038/ng.163. Epub 2008 May 18. Nat Genet. 2008. PMID: 18488026 Free PMC article.
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG. Medland SE, et al. Among authors: macgregor s. Am J Hum Genet. 2009 Nov;85(5):750-5. doi: 10.1016/j.ajhg.2009.10.009. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896111 Free PMC article.
Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies.
Elliott KS, Zeggini E, McCarthy MI, Gudmundsson J, Sulem P, Stacey SN, Thorlacius S, Amundadottir L, Grönberg H, Xu J, Gaborieau V, Eeles RA, Neal DE, Donovan JL, Hamdy FC, Muir K, Hwang SJ, Spitz MR, Zanke B, Carvajal-Carmona L, Brown KM; Australian Melanoma Family Study Investigators; Hayward NK, Macgregor S, Tomlinson IP, Lemire M, Amos CI, Murabito JM, Isaacs WB, Easton DF, Brennan P; PanScan Consortium; Barkardottir RB, Gudbjartsson DF, Rafnar T, Hunter DJ, Chanock SJ, Stefansson K, Ioannidis JP. Elliott KS, et al. Among authors: macgregor s. PLoS One. 2010 May 28;5(5):e10858. doi: 10.1371/journal.pone.0010858. PLoS One. 2010. PMID: 20526366 Free PMC article.
676 results