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Journal Articles

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

Caterina Marconi, Christian A. Di Buduo, Kellie LeVine, Serena Barozzi, Michela Faleschini, Valeria Bozzi, Flavia Palombo, Spencer McKinstry, Giuseppe Lassandro, Paola Giordano, Patrizia Noris, Carlo L. Balduini, Anna Savoia, Alessandra Balduini, Tommaso Pippucci, Marco Seri, Nicholas Katsanis, Alessandro Pecci
Journal: Blood
Blood (2019) 133 (12): 1346–1357.
https://doi.org/10.1182/blood-2018-07-859496
Published: 2019
Includes: Supplemental data
Journal Articles

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

Brief Report
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
Journal: Blood
Blood (2015) 125 (5): 869–872.
https://doi.org/10.1182/blood-2014-08-594531
Published: 2015
Includes: Supplemental data
Journal Articles

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

e-blood
Patrizia Noris, Ginevra Biino, Alessandro Pecci, Elisa Civaschi, Anna Savoia, Marco Seri, Federica Melazzini, Giuseppe Loffredo, Giovanna Russo, Valeria Bozzi, Lucia Dora Notarangelo, Paolo Gresele, Paula G. Heller, Nuria Pujol-Moix, Shinji Kunishima, Marco Cattaneo, James Bussel, Erica De Candia, Claudia Cagioni, Ugo Ramenghi, Serena Barozzi, Fabrizio Fabris, Carlo L. Balduini
Journal: Blood
Blood (2014) 124 (6): e4–e10.
https://doi.org/10.1182/blood-2014-03-564328
Published: 2014
Journal Articles

ANKRD26 -related thrombocytopenia and myeloid malignancies

Patrizia Noris, Remi Favier, Marie-Christine Alessi, Amy E. Geddis, Shinji Kunishima, Paula G. Heller, Paola Giordano, Karen Y. Niederhoffer, James B. Bussel, Gian Marco Podda, Nicola Vianelli, Rogier Kersseboom, Alessandro Pecci, Chiara Gnan, Caterina Marconi, Anne Auvrignon, William Cohen, Jennifer C. Yu, Akihiro Iguchi, Allison Miller Imahiyerobo, Francoise Boehlen, Dorsaf Ghalloussi, Daniela De Rocco, Pamela Magini, Elisa Civaschi, Ginevra Biino, Marco Seri, Anna Savoia, Carlo L. Balduini
Journal: Blood
Blood (2013) 122 (11): 1987–1989.
https://doi.org/10.1182/blood-2013-04-499319
Published: 2013
Journal Articles

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

Patrizia Noris, Silverio Perrotta, Marco Seri, Alessandro Pecci, Chiara Gnan, Giuseppe Loffredo, Nuria Pujol-Moix, Marco Zecca, Francesca Scognamiglio, Daniela De Rocco, Francesca Punzo, Federica Melazzini, Saverio Scianguetta, Maddalena Casale, Caterina Marconi, Tommaso Pippucci, Giovanni Amendola, Lucia D. Notarangelo, Catherine Klersy, Elisa Civaschi, Carlo L. Balduini, Anna Savoia
Journal: Blood
Blood (2011) 117 (24): 6673–6680.
https://doi.org/10.1182/blood-2011-02-336537
Published: 2011
Journal Articles

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

Brief Report
Claudio Graziano, Simona Carone, Emanuele Panza, Flora Marino, Pamela Magini, Giovanni Romeo, Andrea Pession, Marco Seri
Journal: Blood
Blood (2009) 114 (8): 1655–1657.
https://doi.org/10.1182/blood-2009-04-217851
Published: 2009
Includes: Supplemental data
Journal Articles

Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease

Clinical Trials & Observations
Janos Sumegi, Dali Huang, Arpad Lanyi, Jack D. Davis, Thomas A. Seemayer, Akihiko Maeda, George Klein, Marco Seri, Hiroshi Wakiguchi, David T. Purtilo, Thomas G. Gross
Journal: Blood
Blood (2000) 96 (9): 3118–3125.
https://doi.org/10.1182/blood.V96.9.3118
Published: 2000