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407 results

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Page 1
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: martinelli s. 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.
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. Cancer Genet Cytogenet. 2006 Apr 15;166(2):124-9. doi: 10.1016/j.cancergencyto.2005.10.003. Cancer Genet Cytogenet. 2006. PMID: 16631468
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Tartaglia M, et al. Among authors: martinelli s. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Nat Genet. 2007. PMID: 17143282
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M. Martinelli S, et al. Hum Mol Genet. 2008 Jul 1;17(13):2018-29. doi: 10.1093/hmg/ddn099. Epub 2008 Mar 27. Hum Mol Genet. 2008. PMID: 18372317 Free PMC article.
RAS signaling dysregulation in human embryonal Rhabdomyosarcoma.
Martinelli S, McDowell HP, Vigne SD, Kokai G, Uccini S, Tartaglia M, Dominici C. Martinelli S, et al. Genes Chromosomes Cancer. 2009 Nov;48(11):975-82. doi: 10.1002/gcc.20702. Genes Chromosomes Cancer. 2009. PMID: 19681119
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M. Martinelli S, et al. Am J Hum Genet. 2010 Aug 13;87(2):250-7. doi: 10.1016/j.ajhg.2010.06.015. Epub 2010 Jul 8. Am J Hum Genet. 2010. PMID: 20619386 Free PMC article.
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
Martinelli S, Nardozza AP, Delle Vigne S, Sabetta G, Torreri P, Bocchinfuso G, Flex E, Venanzi S, Palleschi A, Gelb BD, Cesareni G, Stella L, Castagnoli L, Tartaglia M. Martinelli S, et al. J Biol Chem. 2012 Aug 3;287(32):27066-77. doi: 10.1074/jbc.M112.350231. Epub 2012 Jun 18. J Biol Chem. 2012. PMID: 22711529 Free PMC article.
407 results