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Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.
Baccelli F, Leardini D, Muratore E, Messelodi D, Bertuccio SN, Chiriaco M, Cancrini C, Conti F, Castagnetti F, Pedace L, Pession A, Yoshimi A, Niemeyer C, Tartaglia M, Locatelli F, Masetti R. Baccelli F, et al. Among authors: locatelli f. Hum Genomics. 2022 Sep 19;16(1):40. doi: 10.1186/s40246-022-00414-y. Hum Genomics. 2022. PMID: 36123612 Free PMC article.
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
Tartaglia M, Martinelli S, Iavarone I, Cazzaniga G, Spinelli M, Giarin E, Petrangeli V, Carta C, Masetti R, Aricò M, Locatelli F, Basso G, Sorcini M, Pession A, Biondi A. Tartaglia M, et al. Among authors: locatelli f. Br J Haematol. 2005 May;129(3):333-9. doi: 10.1111/j.1365-2141.2005.05457.x. Br J Haematol. 2005. PMID: 15842656 Free article.
Development of an allele-specific minimal residual disease assay for patients with juvenile myelomonocytic leukemia.
Archambeault S, Flores NJ, Yoshimi A, Kratz CP, Reising M, Fischer A, Noellke P, Locatelli F, Sedlacek P, Flotho C, Zecca M, Emanuel PD, Castleberry RP, Niemeyer CM, Bader P, Loh ML. Archambeault S, et al. Among authors: locatelli f. Blood. 2008 Feb 1;111(3):1124-7. doi: 10.1182/blood-2007-06-093302. Epub 2007 Nov 13. Blood. 2008. PMID: 18000165 Free PMC article.
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
Loh ML, Sakai DS, Flotho C, Kang M, Fliegauf M, Archambeault S, Mullighan CG, Chen L, Bergstraesser E, Bueso-Ramos CE, Emanuel PD, Hasle H, Issa JP, van den Heuvel-Eibrink MM, Locatelli F, Stary J, Trebo M, Wlodarski M, Zecca M, Shannon KM, Niemeyer CM. Loh ML, et al. Among authors: locatelli f. Blood. 2009 Aug 27;114(9):1859-63. doi: 10.1182/blood-2009-01-198416. Epub 2009 Jul 1. Blood. 2009. PMID: 19571318 Free PMC article.
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Starý J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambeault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML. Niemeyer CM, et al. Among authors: locatelli f. Nat Genet. 2010 Sep;42(9):794-800. doi: 10.1038/ng.641. Epub 2010 Aug 8. Nat Genet. 2010. PMID: 20694012 Free PMC article.
Aberrant DNA methylation characterizes juvenile myelomonocytic leukemia with poor outcome.
Olk-Batz C, Poetsch AR, Nöllke P, Claus R, Zucknick M, Sandrock I, Witte T, Strahm B, Hasle H, Zecca M, Stary J, Bergstraesser E, De Moerloose B, Trebo M, van den Heuvel-Eibrink MM, Wojcik D, Locatelli F, Plass C, Niemeyer CM, Flotho C; European Working Group of Myelodysplastic Syndromes in Childhood (EWOG-MDS). Olk-Batz C, et al. Among authors: locatelli f. Blood. 2011 May 5;117(18):4871-80. doi: 10.1182/blood-2010-08-298968. Epub 2011 Mar 15. Blood. 2011. PMID: 21406719 Free article.
2,177 results