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POT1 loss-of-function variants predispose to familial melanoma.
Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ. Robles-Espinoza CD, et al. Among authors: symmons j. Nat Genet. 2014 May;46(5):478-481. doi: 10.1038/ng.2947. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686849 Free PMC article.
Assessment of PALB2 as a candidate melanoma susceptibility gene.
Aoude LG, Xu M, Zhao ZZ, Kovacs M, Palmer JM, Johansson P, Symmons J, Trent JM, Martin NG, Montgomery GW, Brown KM, Hayward NK. Aoude LG, et al. Among authors: symmons j. PLoS One. 2014 Jun 20;9(6):e100683. doi: 10.1371/journal.pone.0100683. eCollection 2014. PLoS One. 2014. PMID: 24949998 Free PMC article.
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
Aoude LG, Pritchard AL, Robles-Espinoza CD, Wadt K, Harland M, Choi J, Gartside M, Quesada V, Johansson P, Palmer JM, Ramsay AJ, Zhang X, Jones K, Symmons J, Holland EA, Schmid H, Bonazzi V, Woods S, Dutton-Regester K, Stark MS, Snowden H, van Doorn R, Montgomery GW, Martin NG, Keane TM, López-Otín C, Gerdes AM, Olsson H, Ingvar C, Borg A, Gruis NA, Trent JM, Jönsson G, Bishop DT, Mann GJ, Newton-Bishop JA, Brown KM, Adams DJ, Hayward NK. Aoude LG, et al. Among authors: symmons j. J Natl Cancer Inst. 2014 Dec 13;107(2):dju408. doi: 10.1093/jnci/dju408. Print 2015 Feb. J Natl Cancer Inst. 2014. PMID: 25505254 Free PMC article.
POLE mutations in families predisposed to cutaneous melanoma.
Aoude LG, Heitzer E, Johansson P, Gartside M, Wadt K, Pritchard AL, Palmer JM, Symmons J, Gerdes AM, Montgomery GW, Martin NG, Tomlinson I, Kearsey S, Hayward NK. Aoude LG, et al. Among authors: symmons j. Fam Cancer. 2015 Dec;14(4):621-8. doi: 10.1007/s10689-015-9826-8. Fam Cancer. 2015. PMID: 26251183
Multiplex melanoma families are enriched for polygenic risk.
Law MH, Aoude LG, Duffy DL, Long GV, Johansson PA, Pritchard AL, Khosrotehrani K, Mann GJ, Montgomery GW, Iles MM, Cust AE, Palmer JM; Melanoma GWAS Consortium; Shannon KF, Spillane AJ, Stretch JR, Thompson JF, Saw RPM, Scolyer RA, Martin NG, Hayward NK, MacGregor S. Law MH, et al. Hum Mol Genet. 2020 Oct 10;29(17):2976-2985. doi: 10.1093/hmg/ddaa156. Hum Mol Genet. 2020. PMID: 32716505 Free PMC article.
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: symmons j. Nature. 2011 Nov 13;480(7375):99-103. doi: 10.1038/nature10630. Nature. 2011. PMID: 22080950 Free PMC article.
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.
Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, Hewitt AW, Kiilgaard JF, Heegaard S, Isaacs T, Franchina M, Ingvar C, Vermeulen T, Whitehead KJ, Schmidt CW, Palmer JM, Symmons J, Gerdes AM, Jönsson G, Hayward NK. Johansson P, et al. Among authors: symmons j. Oncotarget. 2016 Jan 26;7(4):4624-31. doi: 10.18632/oncotarget.6614. Oncotarget. 2016. PMID: 26683228 Free PMC article.
14 results