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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: martin ng. 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.
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.
Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, Hayward NK, Martin NG, Sturm RA. Duffy DL, et al. Among authors: martin ng. Hum Mol Genet. 2004 Feb 15;13(4):447-61. doi: 10.1093/hmg/ddh043. Epub 2004 Jan 6. Hum Mol Genet. 2004. PMID: 14709592
A deletion mutation in GDF9 in sisters with spontaneous DZ twins.
Montgomery GW, Zhao ZZ, Marsh AJ, Mayne R, Treloar SA, James M, Martin NG, Boomsma DI, Duffy DL. Montgomery GW, et al. Among authors: martin ng. Twin Res. 2004 Dec;7(6):548-55. doi: 10.1375/1369052042663823. Twin Res. 2004. PMID: 15607004
1,684 results