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Autore Titolo Tipo [ Anno(Asc)]
Filtri: Autore è Pujol-Moix, Núria  [Clear All Filters]
2016
Verver EJJ, Topsakal V, Kunst HPM, Huygen PLM, Heller PG, Pujol-Moix N, Savoia A, Benazzo M, Fierro T, Grolman W, Gresele P, Pecci A. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. Ear Hear 2016;37(1):112-20.
2014
Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux M-F, Glembotsky AC, Muñiz-Diaz E, Randi MLuigia, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, Balduini CL, Bayart S, Bauters A, Benabdallah-Guedira S, Boehlen F, Borg J-Y, Bottega R, Bussel J, De Rocco D, de Maistre E, Faleschini M, Falcinelli E, Ferrari S, Ferster A, Fierro T, Fleury D, Fontana P, James C, Lanza F, Duchez VLe Cam, Loffredo G, Magini P, Martin-Coignard D, Menard F, Mercier S, Mezzasoma A, Minuz P, Nichele I, Notarangelo LD, Pippucci T, Podda GMarco, Pouymayou C, Rigouzzo A, Royer B, Sie P, Siguret V, Trichet C, Tucci A, Saposnik B, Veneri D. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Haematologica 2014;99(8):1387-94.
Pecci A, Klersy C, Gresele P, Lee KJD, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WHA, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A. MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 2014;35(2):236-47.
Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, Melazzini F, Loffredo G, Russo G, Bozzi V, Notarangelo LDora, Gresele P, Heller PG, Pujol-Moix N, Kunishima S, Cattaneo M, Bussel J, De Candia E, Cagioni C, Ramenghi U, Barozzi S, Fabris F, Balduini CL. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood 2014;124(6):e4-e10.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp M-C, Alessi M-C, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux M-F, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
2011
Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, Punzo F, Melazzini F, Scianguetta S, Casale M, Marconi C, Pippucci T, Amendola G, Notarangelo LD, Klersy C, Civaschi E, Balduini CL, Savoia A. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011;117(24):6673-80.
Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 2011;88(1):115-20.

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