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Page 1
Genotype and phenotype spectrum of NRAS germline variants.
Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, Baynam G, Buscarilli M, Dyack S, Gillis J, Yntema HG, Pantaleoni F, van Loon RL, MacKay S, Mina K, Schanze I, Tan TY, Walsh M, White SM, Niewisch MR, García-Miñaúr S, Plaza D, Ahmadian MR, Cavé H, Tartaglia M, Zenker M. Altmüller F, et al. Among authors: tartaglia m. Eur J Hum Genet. 2017 Jun;25(7):823-831. doi: 10.1038/ejhg.2017.65. Epub 2017 May 3. Eur J Hum Genet. 2017. PMID: 28594414 Free PMC article.
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
Martinelli S, Carta C, Flex E, Binni F, Cordisco EL, Moretti S, Puxeddu E, Tonacchera M, Pinchera A, McDowell HP, Dominici C, Rosolen A, Di Rocco C, Riccardi R, Celli P, Picardo M, Genuardi M, Grammatico P, Sorcini M, Tartaglia M. Martinelli S, et al. Among authors: tartaglia m. Cancer Genet Cytogenet. 2006 Apr 15;166(2):124-9. doi: 10.1016/j.cancergencyto.2005.10.003. Cancer Genet Cytogenet. 2006. PMID: 16631468
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M. Zampino G, et al. Among authors: tartaglia m. Hum Mutat. 2007 Mar;28(3):265-72. doi: 10.1002/humu.20431. Hum Mutat. 2007. PMID: 17054105
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.
Flex E, Petrangeli V, Stella L, Chiaretti S, Hornakova T, Knoops L, Ariola C, Fodale V, Clappier E, Paoloni F, Martinelli S, Fragale A, Sanchez M, Tavolaro S, Messina M, Cazzaniga G, Camera A, Pizzolo G, Tornesello A, Vignetti M, Battistini A, Cavé H, Gelb BD, Renauld JC, Biondi A, Constantinescu SN, Foà R, Tartaglia M. Flex E, et al. Among authors: tartaglia m. J Exp Med. 2008 Apr 14;205(4):751-8. doi: 10.1084/jem.20072182. Epub 2008 Mar 24. J Exp Med. 2008. PMID: 18362173 Free PMC article.
834 results