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Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.
Quesada V, Conde L, Villamor N, Ordóñez GR, Jares P, Bassaganyas L, Ramsay AJ, Beà S, Pinyol M, Martínez-Trillos A, López-Guerra M, Colomer D, Navarro A, Baumann T, Aymerich M, Rozman M, Delgado J, Giné E, Hernández JM, González-Díaz M, Puente DA, Velasco G, Freije JM, Tubío JM, Royo R, Gelpí JL, Orozco M, Pisano DG, Zamora J, Vázquez M, Valencia A, Himmelbauer H, Bayés M, Heath S, Gut M, Gut I, Estivill X, López-Guillermo A, Puente XS, Campo E, López-Otín C. Quesada V, et al. Among authors: ramsay aj. Nat Genet. 2011 Dec 11;44(1):47-52. doi: 10.1038/ng.1032. Nat Genet. 2011. PMID: 22158541
POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.
Ramsay AJ, Quesada V, Foronda M, Conde L, Martínez-Trillos A, Villamor N, Rodríguez D, Kwarciak A, Garabaya C, Gallardo M, López-Guerra M, López-Guillermo A, Puente XS, Blasco MA, Campo E, López-Otín C. Ramsay AJ, et al. Nat Genet. 2013 May;45(5):526-30. doi: 10.1038/ng.2584. Epub 2013 Mar 17. Nat Genet. 2013. PMID: 23502782
Chronic lymphocytic leukemia with SF3B1 mutation.
Quesada V, Ramsay AJ, Lopez-Otin C. Quesada V, et al. Among authors: ramsay aj. N Engl J Med. 2012 Jun 28;366(26):2530. doi: 10.1056/NEJMc1204033. N Engl J Med. 2012. PMID: 22738114 No abstract available.
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: ramsay aj. 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.
115 results