Export 19 results:
Autore [ Titolo(Asc)] Tipo Anno
Filtri: Autore è Noris, Patrizia  [Clear All Filters]
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S
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.
P
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.
N
Noris P, Marconi C, De Rocco D, Melazzini F, Pippucci T, Loffredo G, Giangregorio T, Pecci A, Seri M, Savoia A. A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene. Br J Haematol 2018;181(5):698-701.
M
Zaninetti C, De Rocco D, Giangregorio T, Bozzi V, Demeter J, Leoni P, Noris P, Ryhänen S, Barozzi S, Pecci A, Savoia A. MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder. Hamostaseologie 2019;39(1):87-94.
De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A. MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur J Med Genet 2013;56(1):7-12.
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.
De Rocco D, Melazzini F, Marconi C, Pecci A, Bottega R, Gnan C, Palombo F, Giordano P, Coccioli MSusanna, Glembotsky AC, Heller PG, Seri M, Savoia A, Noris P. Mutations of RUNX1 in families with inherited thrombocytopenia. Am J Hematol 2017;92(6):E86-E88.
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.
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.
L
Marconi C, Di Buduo CA, LeVine K, Barozzi S, Faleschini M, Bozzi V, Palombo F, McKinstry S, Lassandro G, Giordano P, Noris P, Balduini CL, Savoia A, Balduini A, Pippucci T, Seri M, Katsanis N, Pecci A. Loss-of-function mutations in cause a new form of inherited thrombocytopenia. Blood 2019;133(12):1346-1357.
G
Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini CL, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet 2015;47(5):535-8.
E
Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, Bozzi V, Mezzasoma AMaria, Melazzini F, Balduini CL. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 2010;116(26):5832-7.

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