Search Results - Caterina Marconi

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  1. 1
    A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

    A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree by Caterina Marconi, Paolo Brunamonti Binello, Giovanni Badiali, Emanuela Caci, Roberto Cusano, Joseph Garibaldi, Tommaso Pippucci, Alberto Merlini, Claudio Marchetti, Kerry J. Rhoden, Luis J. V. Galietta, Faustina Lalatta, P Balbi, Marco Seri

    Published 2012
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  2. 2
    ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

    ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization by Roberta Bottega, Caterina Marconi, Michela Faleschini, Gabriele Baj, Claudia Cagioni, Alessandro Pecci, Tommaso Pippucci, Ugo Ramenghi, Simonetta Pardini, Loretta Ngu, Carlo Baronci, Shinji Kunishima, Carlo L. Balduini, Marco Seri, Anna Savoia, Patrizia Noris

    Published 2014
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  3. 3
    Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

    Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia by Caterina Marconi, Christian A. Di Buduo, Kellie LeVine, Serena Barozzi, Michela Faleschini, Valeria Bozzi, Flavia Palombo, Spencer U. McKinstry, Giuseppe Lassandro, Paola Giordano, Patrizia Noris, Carlo L. Balduini, Anna Savoia, Alessandra Balduini, Tommaso Pippucci, Marco Seri, Nicholas Katsanis, Alessandro Pecci

    Published 2018
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  4. 4
    Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

    Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families by Patrizia Noris, Silverio Perrotta, Marco Seri, Alessandro Pecci, Chiara Gnan, Giuseppe Loffredo, Núria Pujol‐Moix, Marco Zecca, Francesca Scognamiglio, Daniela De Rocco, Francesca Punzo, Federica Melazzini, Saverio Scianguetta, Maddalena Casale, Caterina Marconi, Tommaso Pippucci, Giovanni Amendola, Lucia Dora Notarangelo, Catherine Klersy, Elisa Civaschi, Carlo L. Balduini, Anna Savoia

    Published 2011
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  5. 5
    Clinical and pathogenic features of <i>ETV6</i> -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

    Clinical and pathogenic features of <i>ETV6</i> -related thrombocytopenia with predisposition to acute lymphoblastic leukemia by Federica Melazzini, Flavia Palombo, Alessandra Balduini, Daniela De Rocco, Caterina Marconi, Patrizia Noris, Chiara Gnan, Tommaso Pippucci, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Michael Doubek, Christian A. Di Buduo, Kateřina Staňo Kozubík, Lenka Radová, Giuseppe Loffredo, Šárka Pospı́šilová, Caterina Alfano, Marco Seri, Carlo L. Balduini, Alessandro Pecci, Anna Savoia

    Published 2016
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  6. 6
    Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

    Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2 by Tommaso Pippucci, Anna Savoia, Silverio Perrotta, Núria Pujol‐Moix, Patrizia Noris, Giovanni Castegnaro, Alessandro Pecci, Chiara Gnan, Francesca Punzo, Caterina Marconi, Samuele Gherardi, Giuseppe Loffredo, Daniela De Rocco, Saverio Scianguetta, Serena Barozzi, Pamela Magini, Valeria Bozzi, Luca Dezzani, Mariateresa Di Stazio, Marcella Ferraro, Giovanni Perini, Marco Seri, Carlo L. Balduini

    Published 2011
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  7. 7
    Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

    Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia by Patrizia Noris, Nicole Schlegel, Catherine Klersy, Paula G. Heller, Elisa Civaschi, Núria Pujol‐Moix, F Fabris, Rémi Favier, Paolo Gresele, Véronique Latger‐Cannard, Adam Cuker, Paquita Nurden, A. Greinacher, Marco Cattaneo, Erica De Candia, Alessandro Pecci, M.-F. Hurtaud-Roux, Ana C. Glembotsky, Eduardo Muñiz‐Díaz, M. L. Randi, Nathalie Trillot, Loredana Bury, Thomas Lecompte, Caterina Marconi, Anna Savoia, Carlo L. Balduini, Sophie Bayart, Anne Bauters, S. Benabdallah-Guedira, Françoise Boehlen, J.Y. Borg, Roberta Bottega, James B. Bussel, Daniela De Rocco, Emmanuel de Maistre, Michela Faleschini, Emanuela Falcinelli, Silvia Ferrari, Alina Ferster, Tiziana Fierro, D. Fleury, Pierre Fontana, Chloé James, François Lanza, Véronique Le Cam Duchez, Giuseppe Loffredo, Pamela Magini, Dominique Martin–Coignard, F. Ménard, Sandra Mercier, Anna Maria Mezzasoma, P. Minuz, Ilaria Nichele, Luigi D. Notarangelo, Tommaso Pippucci, Gian Marco Podda, Catherine Pouymayou, A. Rigouzzo, Bruno Royer, Piérre Siè, Virginie Siguret, Catherine Trichet, Alessandra Tucci, Béatrice Saposnik, Dino Veneri

    Published 2014
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  8. 8
    ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

    ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population by Elisa Benetti, Rossella Tita, Ottavia Spiga, Andrea Ciolfi, Giovanni Birolo, Alessandro Bruselles, Gabriella Doddato, Annarita Giliberti, Caterina Marconi, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Alfonso Trezza, Floriana Valentino, Margherita Baldassarri, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Marco Tartaglia, Francesca Mari, Elisa Frullanti, Chiara Fallerini, Sergio Daga, Susanna Croci, Sara Amitrano, Francesca Fava, Francesca Montagnani, Laura Di Sarno, Andrea Tommasi, Maria Palmieri, Arianna Emiliozzi, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennet, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Marco Feri, Raffaele Scala, Genni Spargi, Marta Corridi, Cesira Nencioni, Gian Piero Caldarelli, Maurizio Spagnesi, Paolo Piacentini, Maria Bandini, Elena Desanctis, Anna Canaccini, Chiara Spertilli, Alice Donati, Luca Guidelli, Leonardo Croci, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Massimo Vaghi, Antonella d’Arminio Monforte, Esther Merlini, Mario U. Mondelli, Stefania Mantovani, Serena Ludovisi, Massimo Girardis, Sophie Venturelli, Marco Sita, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Renzo Scaggiante, Saverio Giuseppe Parisi, Francesco Castelli, Eugenia Quirós-Roldán, Paola Magro, C Minardi, Deborah Castelli, I Polesini, Matteo Della Monica, Carmelo Piscopo

    Published 2020
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