Savoia, Anna

Savoia, Anna  

DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO  

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A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect 1-gen-2010 Vettore, S.; DE ROCCO, Daniela; Gerber, B.; Scandellari, R.; Bianco, ANNA MONICA ROSARIA; Balduini, C. L.; Pecci, A.; Fabris, F.; Savoia, Anna
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 gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 1-gen-2015 Seri, Marco; Savoia, Anna; Perrotta, Silverio; Pecci, Alessandro; Marconi, Caterina; Gnan, Chiara; Noris, Patrizia; Magini, Pamela; Faleschini, Michela; Pippucci, Tommaso; Balduini, Alessandra; L., Balduini Carlo
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia 1-gen-2007 Borriello, A; Locasciulli, A; Bianco, Am; Criscuolo, M; Conti, V; Grammatico, P; Cappellacci, S; Zatterale, A; Morgese, F; Cucciolla, V; Delia, D; DELLA RAGIONE, F; Savoia, Anna
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome 1-gen-2015 Hauschner, Hagit; Mor Cohen, Ronit; Messineo, Stefania; Mansour, Wissam; Seligsohn, Uri; Savoia, Anna; Rosenberg, Nurit
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin 1-gen-2009 Savoia, Anna; Noris, P; Perrotta, S; Punzo, F; DE ROCCO, Daniela; Oostra, Ba; Balduini, Cl
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 1-gen-2014 Faleschini, M.; Marconi, C.; Bottega, R.; Pipucci, T.; Baj, G.; Noris, P.; Pecci, A.; Balduini, C. L.; Seri, M.; Savoia, A.
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 Bottega, Roberta; Marconi, Caterina; Faleschini, Michela; Baj, Gabriele; Cagioni, Claudia; Pecci, Alessandro; Pippucci, Tommaso; Ramenghi, Ugo; Pardini, Simonetta; Ngu, Loretta; Baronci, Carlo; Kunishima, Shinji; Balduini, Carlo L.; Seri, Marco; Savoia, Anna; Noris, Patrizia
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome 1-gen-2012 Pecci, A.; Biino, G.; Fierro, T.; Bozzi, V.; Mezzasoma, A.; Noris, P.; Ramenghi, U.; Loffredo, G.; Fabris, F.; Momi, S.; Magrini, U.; Pirastu, M.; Savoia, Anna; Balduini, C.; Gresele, P.; Italian Registry for MYH9 releated, Diseases
Amplification of DNA from epithelial cells in urine 1-gen-1989 Gasparini, P; Savoia, A.; Pignatti, Pf; Dallapiccola, B; Novelli, G
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 1-gen-1999 Savoia, Anna; DEL VECCHIO, M; Totaro, A; Perrotta, S; Amendola, G; Moretti, A; Zelante, L; Iolascon, A.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 1-gen-2014 Noris, Patrizia; Schlegel, Nicole; Klersy, Catherine; Heller, Paula G; Civaschi, Elisa; Pujol Moix, Nuria; Fabris, Fabrizio; Favier, Remi; Gresele, Paolo; Latger Cannard, Véronique; Cuker, Adam; Nurden, Paquita; Greinacher, Andreas; Cattaneo, Marco; De Candia, Erica; Pecci, Alessandro; Hurtaud Roux, Marie Françoise; Glembotsky, Ana C; Muñiz Diaz, Eduardo; Randi, Maria Luigia; Trillot, Nathalie; Bury, Loredana; Lecompte, Thomas; Marconi, Caterina; Savoia, Anna; Balduini, Carlo L; Bayart, Sophie; Bauters, Anne; Benabdallah Guedira, Schéhérazade; Boehlen, Françoise; Borg, Jeanne Yvonne; Bottega, Roberta; Bussel, James; De Rocco, Daniela; de Maistre, Emmanuel; Faleschini, Michela; Falcinelli, Emanuela; Ferrari, Silvia; Ferster, Alina; Fierro, Tiziana; Fleury, Dominique; Fontana, Pierre; James, Chloé; Lanza, Francois; Le Cam Duchez, Véronique; Loffredo, Giuseppe; Magini, Pamela; Martin Coignard, Dominique; Menard, Fanny; Mercier, Sandra; Mezzasoma, Annamaria; Minuz, Pietro; Nichele, Ilaria; Notarangelo, Lucia D; Pippucci, Tommaso; Podda, Gian Marco; Pouymayou, Catherine; Rigouzzo, Agnes; Royer, Bruno; Sie, Pierre; Siguret, Virginie; Trichet, Catherine; Tucci, Alessandra; Saposnik, Béatrice; Veneri, Dino
Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici 1-gen-2002 Savoia, A.
ANKRD26-related thrombocytopenia and myeloid malignancies 1-gen-2013 P., Noris; R., Favier; M. C., Alessi; A. E., Geddis; S., Kunishima; P. G., Heller; P., Giordano; K. Y., Niederhoffer; J. B., Bussel; G. M., Podda; N., Vianelli; R., Kersseboom; A., Pecci; Gnan, Chiara; C., Marconi; A., Auvrignon; W., Cohen; J. C., Yu; A., Iguchi; A., Miller Imahiyerobo; F., Boehlen; D., Ghalloussi; DE ROCCO, Daniela; P., Magini; E., Civaschi; G., Biino; M., Seri; Savoia, Anna; C. L., Balduini
Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule 1-gen-2013 P., Gresele; DE ROCCO, Daniela; L., Bury; T., Fierro; A. M., Mezzasoma; A., Pecci; Savoia, Anna
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients 1-gen-2004 Noris, P; Pecci, A; DI BARI, F; DI STAZIO, Mt; DI PUMPO, M; Ceresa, I; Arezzi, N; Ambaglio, C; Savoia, A.; Balduini, Cl
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group 1-gen-2000 Faivre, L; Guardiola, P; Lewis, C; Dokal, I; Ebell, W; Zatterale, A; Altay, C; Poole, Je; Stones, D; Kwee, Ml; VAN WEEL-SIPMAN, M; Havenga, C; Morgan, Nv; DE WINTER, J; Digweed, M; Savoia, A.; Pronk, Jc; DE RAVEL, T; Jansen, S; Joenje, H; Gluckman, E; Mathew, Cg.
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 1-gen-2001 Savoia, Anna; Balduini, C; Savino, M; Noris, N; DEL VECCHIO, M; Perotta, S; Belletti, S; Poggi, V; Iolascon, A.
Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia 1-gen-2006 Noris, P; Guidetti, Gf; Conti, V; Ceresa, If; DI PUMPO, M; Pecci, A; Torti, M; Savoia, Anna; Balduini, C. L.