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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: archambeault s. 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.
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: archambeault s. 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.
The genomic landscape of juvenile myelomonocytic leukemia.
Stieglitz E, Taylor-Weiner AN, Chang TY, Gelston LC, Wang YD, Mazor T, Esquivel E, Yu A, Seepo S, Olsen S, Rosenberg M, Archambeault SL, Abusin G, Beckman K, Brown PA, Briones M, Carcamo B, Cooper T, Dahl GV, Emanuel PD, Fluchel MN, Goyal RK, Hayashi RJ, Hitzler J, Hugge C, Liu YL, Messinger YH, Mahoney DH Jr, Monteleone P, Nemecek ER, Roehrs PA, Schore RJ, Stine KC, Takemoto CM, Toretsky JA, Costello JF, Olshen AB, Stewart C, Li Y, Ma J, Gerbing RB, Alonzo TA, Getz G, Gruber T, Golub T, Stegmaier K, Loh ML. Stieglitz E, et al. Among authors: archambeault sl. Nat Genet. 2015 Nov;47(11):1326-1333. doi: 10.1038/ng.3400. Epub 2015 Oct 12. Nat Genet. 2015. PMID: 26457647 Free PMC article.
Corrigendum: The genomic landscape of juvenile myelomonocytic leukemia.
Stieglitz E, Taylor-Weiner AN, Chang TY, Gelston LC, Wang YD, Mazor T, Esquivel E, Yu A, Seepo S, Olsen SR, Rosenberg M, Archambeault SL, Abusin G, Beckman K, Brown PA, Briones M, Carcamo B, Cooper T, Dahl GV, Emanuel PD, Fluchel MN, Goyal RK, Hayashi RJ, Hitzler J, Hugge C, Liu YL, Messinger YH, Mahoney DH Jr, Monteleone P, Nemecek ER, Roehrs PA, Schore RJ, Stine KC, Takemoto CM, Toretsky JA, Costello JF, Olshen AB, Stewart C, Li Y, Ma J, Gerbing RB, Alonzo TA, Getz G, Gruber TA, Golub TR, Stegmaier K, Loh ML. Stieglitz E, et al. Among authors: archambeault sl. Nat Genet. 2016 Jan;48(1):101. doi: 10.1038/ng0116-101a. Nat Genet. 2016. PMID: 26711114 No abstract available.
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