NORIS, PATRIZIA

NORIS, PATRIZIA  

DIPARTIMENTO DI MEDICINA INTERNA E TERAPIA MEDICA  

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A HOMOZYGOUS POINT MUTATION IN A LEUCINE-RICH MOTIF OF PLATELET GLYCOPROTEIN-IX ASSOCIATED WITH BERNARD-SOULIER SYNDROME (BSS) 1-gen-1994 Noris, Patrizia; Simsek, S.; Stibbe, J.; VON DEM BORNE, A. E. G. K.
A Leu40Pro substitution in the leucine rich motif (LRM) of glycoprotein (GP) IX is responsible for dysfunction of a normally expressed GPIB alpha in Bernard-Soulier syndrome (BSS) 1-gen-1995 Noris, Patrizia; Bertolino, G.; Spedini, P.; Mazzini, G.; Arbustini, E.; Balduini, Carlo
A MONOALLELIC LOSS-FUNCTION MUTATION IN THE THROMBOPOIETIN (THPO) GENE IS RESPONSIBLE FOR A NEW FORM OF INHERITED THROMBOCYTOPENIA (IT) 1-gen-2017 Noris, P; Marconi, C; De Rocco, D; Melazzini, F; Pippucci, T; Loffredo, G; Giangregorio, T; Cigalini, E; Pecci, A; Seri, M; Savoia, A
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 1-gen-2018 Noris, Patrizia; Marconi, Caterina; De Rocco, Daniela; Melazzini, Federica; Pippucci, Tommaso; Loffredo, Giuseppe; Giangregorio, Tania; Pecci, Alessandro; Seri, Marco; Savoia, Anna
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) IB and severely reduced amounts of GPIX and GPV. 1-gen-1998 Noris, Patrizia; Arbustini, E.; Spedini, P.; Belletti, S.; Balduini, Carlo
A novel mutation in gp1bb reveals the role of the cytoplasmic domain of gpibβ in the pathophysiology of bernard‐soulier syndrome and gpib‐ix complex assembly 1-gen-2021 Barozzi, S.; Bozzi, V.; De Rocco, D.; Giangregorio, T.; Noris, P.; Savoia, A.; Pecci, A.
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. 1-gen-1997 Noris, Patrizia; Simsek, S.; Stibbe, J.; von dem Borne, A. E.
A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders 1-gen-2015 Mumford, Andrew D; Frelinger, Andrew L.; Gachet, Christian; Gresele, Paolo; Noris, Patrizia; Harrison, Paul; Mezzano, Diego
Abdominal lymphographic pattern in connective tissue diseases is quite similar to that observed in lymphocytic lymphoma. 1-gen-1989 Bertolino, G.; Balduini, Carlo; Noris, Patrizia; Piletta, G. C.; Paulli, Marco; Stefanoni, R.
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 1-gen-2009 Savoia, A.; Noris, Patrizia; Perrotta, S.; Punzo, F.; De Rocco, D.; Oostra, B. A.; Balduini, Carlo
Acquired cyclic thrombocytopenia-thrombocytosis with periodic defect of platelet function. 1-gen-1993 Balduini, Carlo; Carlo Stella, C.; Rosti, V.; Bertolino, G.; Noris, Patrizia; Ascari, Edoardo
Activation of the haemostatic process in patients with unruptured aortic aneurysm before and after surgical repair 1-gen-1996 Balduini, Carlo; Montani, MARIA NADIA; Noris, Patrizia; Spedini, P.; Belletti, S.; Gamba, Gabriella
Activation of the haemostatic process in patients with unruptured aortic aneurysm before and in the first week after surgical repair. 1-gen-1997 Balduini, Carlo; Salvini, M.; Montani, MARIA NADIA; Noris, Patrizia; Spedini, P.; Belletti, S.; Gamba, Gabriella
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 1-gen-2018 Faleschini, Michela; Melazzini, Federica; Marconi, Caterina; Giangregorio, Tania; Pippucci, Tommaso; Cigalini, Elena; Pecci, Alessandro; Bottega, Roberta; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; Savoia, Anna; Noris, Patrizia
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. 1-gen-2015 R., Bottega; C., Marconi; M., Faleschini; G., Baj; C., Cagioni; Pecci, Alessandro; T., Pippucci; U., Ramenghi; S., Pardini; L., Ngu; C., Baronci; S., Kunishima; Balduini, Carlo; M., Seri; A., Savoia; Noris, Patrizia
Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome. 1-gen-2012 Pecci, Alessandro; Biino, G.; Fierro, T.; Bozzi, V.; Mezzasoma, A.; Noris, Patrizia; Ramenghi, U.; Loffredo, G.; Fabris, F.; Momi, S.; Magrini, Umberto; Pirastu, M.; Savoia, A.; Balduini, Carlo; Gresele, P.
Altered cytoskeleton organization in platelets from patients with MYH9-related disease. 1-gen-2005 Canobbio, Ilaria; Noris, Patrizia; Pecci, Alessandro; Balduini, Alessandra; Balduini, Carlo; Torti, Mauro
Anagrelide in essential thrombocythemia: A retrospective analysis of 220 patients 1-gen-2003 Gugliotta, L.; Grossi, A.; Mazzucconi, M. G.; Bulgarelli, S.; Gamberi, B.; Imovilli, A.; Balestri, F.; Liso, V.; Specchia, G.; Scalzulli, P. R.; Liberati, A. M.; Bassetti, A.; Angelucci, E.; Di Tucci, A.; Iuliano, F.; Gaidano, G.; Conconi, A. R.; Cacciola, E.; Cacciola, R.; Spriano, M.; Crugnola, M.; Tabilio, A.; Balduini, Carlo; Noris, Patrizia; Amato, B.; Candoni, A.; Balleari, E.; Sacchi, S.; Ambrosetti, A.; Zanotti, R.; Giordano, M.; Andriani, A.; Sciorio, A.; Vasino, A. C.; Martinelli, V.; Ciancia, R.; Tringali, S.; Lauria, F.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 1-gen-2014 Noris, Patrizia; 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, Alessandro; Hurtaud Roux, Mf; Glembotsky, Ac; Muñiz Diaz, E; Randi, Ml; Trillot, N; Bury, L; Lecompte, T; Marconi, C; Savoia, A; Balduini, Carlo; Bayart, S; Bauters, A; Benabdallah Guedira, S; Boehlen, F; Borg, Jy; 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; Le Cam Duchez, V; Loffredo, G; Magini, P; Martin Coignard, D; Menard, F; Mercier, S; Mezzasoma, A; Minuz, P; Nichele, I; Notarangelo, Ld; Pippucci, T; Podda, Gm; Pouymayou, C; Rigouzzo, A; Royer, B; Sie, P; Siguret, V; Trichet, C; Tucci, A; Saposnik, B; Veneri, D.
Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders 1-gen-2015 Civaschi, Elisa; Klersy, Catherine; Melazzini, Federica; Pujol Moix, Nuria; Santoro, Cristina; Cattaneo, Marco; Lavenu Bombled, Cécile; Bury, Loredana; Minuz, Pietro; Nurden, Paquita; Cid, Ana R.; Cuker, Adam; Latger Cannard, Véronique; Favier, Remi; Nichele, Ilaria; Noris, Patrizia