5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

Por Marconi, Caterina, Canobbio, Ilaria, Bozzi, Valeria, Pippucci, Tommaso, Simonetti, Giorgia, Melazzini, Federica, Angori, Silvia, Martinelli, Giovanni, Saglio, Giuseppe, Torti, Mauro, Pastan, Ira, Seri, Marco, Pecci, Alessandro
Publicado no J Hematol Oncol (2017)

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

Por Marconi, Caterina, Brunamonti Binello, Paolo, Badiali, Giovanni, Caci, Emanuela, Cusano, Roberto, Garibaldi, Joseph, Pippucci, Tommaso, Merlini, Alberto, Marchetti, Claudio, Rhoden, Kerry J, Galietta, Luis J V, Lalatta, Faustina, Balbi, Paolo, Seri, Marco
Publicado em 2013

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

Por 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
Publicado no Blood (2015)

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

Por Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Marconi, Caterina, De Luise, Monica, Myers, Candace, Nardi, Elena, Provini, Federica, Cameli, Cinzia, Minardi, Raffaella, Bacchelli, Elena, Giordano, Lucio, Crichiutti, Giovanni, d'Orsi, Giuseppe, Seri, Marco, Gasparre, Giuseppe, Mefford, Heather C., Tinuper, Paolo, Bisulli, Francesca
Publicado no Ann Clin Transl Neurol (2019)

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Por Melazzini, Federica, Palombo, Flavia, Balduini, Alessandra, De Rocco, Daniela, Marconi, Caterina, Noris, Patrizia, Gnan, Chiara, Pippucci, Tommaso, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Doubek, Michael, Di Buduo, Christian A., Kozubik, Katerina Stano, Radova, Lenka, Loffredo, Giuseppe, Pospisilova, Sarka, Alfano, Caterina, Seri, Marco, Balduini, Carlo L., Pecci, Alessandro, Savoia, Anna
Publicado no Haematologica (2016)

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

Por Pippucci, Tommaso, Savoia, Anna, Perrotta, Silverio, Pujol-Moix, Núria, Noris, Patrizia, Castegnaro, Giovanni, Pecci, Alessandro, Gnan, Chiara, Punzo, Francesca, Marconi, Caterina, Gherardi, Samuele, Loffredo, Giuseppe, De Rocco, Daniela, Scianguetta, Saverio, Barozzi, Serena, Magini, Pamela, Bozzi, Valeria, Dezzani, Luca, Di Stazio, Mariateresa, Ferraro, Marcella, Perini, Giovanni, Seri, Marco, Balduini, Carlo L.
Publicado em 2011

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Por Benetti, Elisa, Tita, Rossella, Spiga, Ottavia, Ciolfi, Andrea, Birolo, Giovanni, Bruselles, Alessandro, Doddato, Gabriella, Giliberti, Annarita, Marconi, Caterina, Musacchia, Francesco, Pippucci, Tommaso, Torella, Annalaura, Trezza, Alfonso, Valentino, Floriana, Baldassarri, Margherita, Brusco, Alfredo, Asselta, Rosanna, Bruttini, Mirella, Furini, Simone, Seri, Marco, Nigro, Vincenzo, Matullo, Giuseppe, Tartaglia, Marco, Mari, Francesca, Renieri, Alessandra, Pinto, Anna Maria
Publicado no Eur J Hum Genet (2020)

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Por 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
Publicado em 2014