24 results for author:"Martinelli S." in Literature citations
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| Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia. Martinelli S., Checquolo S., Consoli F., Stellacci E., Rossi C., Silvano M., Franciosa G., Flex E., Cossu C., De Luca A. et al. Br. J. Haematol. 159:115-119(2012) · Mapped (1) |
| 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 A.P., Delle Vigne S., Sabetta G., Torreri P., Bocchinfuso G., Flex E., Venanzi S., Palleschi A., Gelb B.D. et al. J. Biol. Chem. 287:27066-27077(2012) · Mapped (6) |
| Biological and structural characterization of Trypanosoma cruzi phosphodiesterase C and Implications for design of parasite selective inhibitors. Wang H., Kunz S., Chen G., Seebeck T., Wan Y., Robinson H., Martinelli S., Ke H. J. Biol. Chem. 287:11788-11797(2012) · UniProtKB (1) · Mapped (1) |
| Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. Prontera P., Pantaleoni F., Martinelli S., Mastrodicasa E., Stangoni G., Barboni G., Tartaglia M., Aversa F., Donti E. Leuk. Res. 35:e13-4(2011) · Mapped (6) |
| 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. et al. Am. J. Hum. Genet. 87:250-257(2010) · UniProtKB (1) |
| Angiopoietin-2 plasma dosage predicts time to first treatment and overall survival in chronic lymphocytic leukemia. Maffei R., Martinelli S., Santachiara R., Rossi D., Guarnotta C., Sozzi E., Zucchetto A., Rigolin G.M., Fiorcari S., Castelli I. et al. Blood 116:584-592(2010) · Mapped (5) |
| Association between estrogen receptor gene polymorphisms and breast density in postmenopausal women. de Moura Ramos E.H., Martinelli S., Silva I., Nazario A., Facina G., Costa A., Carvalho C., Souza N. Climacteric 12:490-501(2009) · Mapped (58) |
| Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Cordeddu V., Di Schiavi E., Pennacchio L.A., Ma'ayan A., Sarkozy A., Fodale V., Cecchetti S., Cardinale A., Martin J., Schackwitz W. et al. |
| RAS signaling dysregulation in human embryonal Rhabdomyosarcoma. Martinelli S., McDowell H.P., Vigne S.D., Kokai G., Uccini S., Tartaglia M., Dominici C. Genes Chromosomes Cancer 48:975-982(2009) · Mapped (30) |
| Increased angiogenesis induced by chronic lymphocytic leukemia B cells is mediated by leukemia-derived Ang2 and VEGF. Maffei R., Martinelli S., Castelli I., Santachiara R., Zucchini P., Fontana M., Fiorcari S., Bonacorsi G., Ilariucci F., Torelli G. et al. Leuk. Res. 34:312-321(2010) · Mapped (12) |
| Congenital heart block not associated with anti-Ro/La antibodies: comparison with anti-Ro/La-positive cases. Brucato A., Grava C., Bortolati M., Ikeda K., Milanesi O., Cimaz R., Ramoni V., Vignati G., Martinelli S., Sadou Y. et al. J. Rheumatol. 36:1744-1748(2009) · Mapped (11) |
| Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Dentici M.L., Sarkozy A., Pantaleoni F., Carta C., Lepri F., Ferese R., Cordeddu V., Martinelli S., Briuglia S., Digilio M.C. et al. Eur. J. Hum. Genet. 17:733-740(2009) · Mapped (8) |
| 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. et al. Hum. Mol. Genet. 17:2018-2029(2008) · Mapped (6) |
| 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. et al. J. Exp. Med. 205:751-758(2008) · Mapped (14) |
| Increased expression of angiopoietin-2 characterizes early B-cell chronic lymphocytic leukemia with poor prognosis. Martinelli S., Maffei R., Castelli I., Santachiara R., Zucchini P., Fontana M., Bonacorsi G., Leonardi G., Marasca R., Torelli G. Leuk. Res. 32:593-597(2008) · Mapped (5) |
| Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Pandit B., Sarkozy A., Pennacchio L.A., Carta C., Oishi K., Martinelli S., Pogna E.A., Schackwitz W., Ustaszewska A., Landstrom A. et al. |
| Angiopoietin-2 expression in B-cell chronic lymphocytic leukemia: association with clinical outcome and immunoglobulin heavy-chain mutational status. Maffei R., Marasca R., Martinelli S., Castelli I., Santachiara R., Morandi E., Zucchini P., Fontana M., Giacobbi F., Silingardi P. et al. Leukemia 21:1312-1315(2007) · Mapped (5) |
| Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2. Bocchinfuso G., Stella L., Martinelli S., Flex E., Carta C., Pantaleoni F., Pispisa B., Venanzi M., Tartaglia M., Palleschi A. Proteins 66:963-974(2007) · Mapped (6) |
| Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Tartaglia M., Pennacchio L.A., Zhao C., Yadav K.K., Fodale V., Sarkozy A., Pandit B., Oishi K., Martinelli S., Schackwitz W. et al. |
| Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Tartaglia M., Martinelli S., Stella L., Bocchinfuso G., Flex E., Cordeddu V., Zampino G., Burgt I., Palleschi A., Petrucci T.C. et al. Am. J. Hum. Genet. 78:279-290(2006) · Mapped (6) |
| Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. Loh M.L., Martinelli S., Cordeddu V., Reynolds M.G., Vattikuti S., Lee C.M., Wulfert M., Germing U., Haas P., Niemeyer C. et al. Leuk. Res. 29:459-462(2005) · Mapped (6) |
| Inflammation-associated cell cycle-independent block of apoptosis by survivin in terminally differentiated neutrophils. Altznauer F., Martinelli S., Yousefi S., Thurig C., Schmid I., Conway E.M., Schoni M.H., Vogt P., Mueller C., Fey M.F. et al. J. Exp. Med. 199:1343-1354(2004) · Mapped (9) |
| Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Tartaglia M., Martinelli S., Cazzaniga G., Cordeddu V., Iavarone I., Spinelli M., Palmi C., Carta C., Pession A., Arico M. et al. Blood 104:307-313(2004) · Mapped (6) |
| Rapid reversion of a deletion mutation in Moloney murine leukemia virus by recombination with a closely related endogenous provirus. Martinelli S.C., Goff S.P. Virology 174:135-144(1990) · UniProtKB (4) |