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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. Among authors: ferrara g. 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.
Acetylation controls Notch3 stability and function in T-cell leukemia.
Palermo R, Checquolo S, Giovenco A, Grazioli P, Kumar V, Campese AF, Giorgi A, Napolitano M, Canettieri G, Ferrara G, Schininà ME, Maroder M, Frati L, Gulino A, Vacca A, Screpanti I. Palermo R, et al. Among authors: ferrara g. Oncogene. 2012 Aug 16;31(33):3807-17. doi: 10.1038/onc.2011.533. Epub 2011 Nov 28. Oncogene. 2012. PMID: 22120716
The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: Communication from the ISTH SSC Subcommittee on Platelet Physiology.
Gresele P, Falcinelli E, Bury L, Pecci A, Alessi MC, Borhany M, Heller PG, Santoro C, Cid AR, Orsini S, Fontana P, De Candia E, Podda G, Kannan M, Jurk K, Castaman G, Falaise C, Guglielmini G, Noris P; BAT-VAL Study Investigators. Gresele P, et al. J Thromb Haemost. 2021 May;19(5):1364-1371. doi: 10.1111/jth.15263. J Thromb Haemost. 2021. PMID: 33880867 Free article.
Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC.
Gresele P, Orsini S, Noris P, Falcinelli E, Alessi MC, Bury L, Borhany M, Santoro C, Glembotsky AC, Cid AR, Tosetto A, De Candia E, Fontana P, Guglielmini G, Pecci A; BAT-VAL study investigators. Gresele P, et al. J Thromb Haemost. 2020 Mar;18(3):732-739. doi: 10.1111/jth.14683. Epub 2019 Dec 16. J Thromb Haemost. 2020. PMID: 31750621 Free article.
The cosmic ray shadow of the Moon observed with the ANTARES neutrino telescope.
Albert A, André M, Anghinolfi M, Anton G, Ardid M, Aubert JJ, Aublin J, Avgitas T, Baret B, Barrios-Martít J, Basa S, Belhorma B, Bertin V, Biagi S, Bormuth R, Boumaaza J, Bourret S, Bouwhuis MC, Brânzaş H, Bruijn R, Brunner J, Busto J, Capone A, Caramete L, Carr J, Celli S, Chabab M, Moursli RCE, Chiarusi T, Circella M, Coelho JAB, Coleiro A, Colomer M, Coniglione R, Costantini H, Coyle P, Creusot A, Díaz AF, Deschamps A, Distefano C, Palma ID, Domi A, Donzaud C, Dornic D, Drouhin D, Eberl T, Bojaddaini IE, Khayati NE, Elsässer D, Enzenhöfer A, Ettahiri A, Fassi F, Felis I, Fermani P, Ferrara G, Fusco LA, Gay P, Glotin H, Grégoire T, Ruiz RG, Graf K, Hallmann S, van Haren H, Heijboer AJ, Hello Y, Hernández-Rey JJ, Hößl J, Hofestädt J, Illuminati G, de Jong M, Jongen M, Kadler M, Kalekin O, Katz U, Khan-Chowdhury NR, Kouchner A, Kreter M, Kreykenbohm I, Kulikovskiy V, Lachaud C, Lahmann R, Lefèvre D, Leonora E, Levi G, Lotze M, Loucatos S, Marcelin M, Margiotta A, Marinelli A, Martínez-Mora JA, Mele R, Melis K, Migliozzi P, Moussa A, Navas S, Nezri E, Nuñez A, Organokov M, Păvălaş GE, Pellegrino C, Piattelli P, Popa V, Pradier T, Quinn L, Racca C, Randazzo N, Riccobene G, S… See abstract for full author list ➔ Albert A, et al. Among authors: ferrara g. Eur Phys J C Part Fields. 2018;78(12):1006. doi: 10.1140/epjc/s10052-018-6451-3. Epub 2018 Dec 11. Eur Phys J C Part Fields. 2018. PMID: 30872956 Free PMC article.
880 results