Search Results - "Cantarini, Maria E."

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak–like primary immunodeficiency syndrome by Badolato, Raffaele, Prandini, Alberto, Caracciolo, Sonia, Colombo, Francesca, Tabellini, Giovanna, Giacomelli, Mauro, Cantarini, Maria E., Pession, Andrea, Bell, Callum J., Dinwiddie, Darrell L., Miller, Neil A., Hateley, Shannon L., Saunders, Carol J., Zhang, Lu, Schroth, Gary P., Plebani, Alessandro, Parolini, Silvia, Kingsmore, Stephen F.

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Immune cytopenias as a continuum in inborn errors of immunity: An in‐depth clinical and immunological exploration by Zama, Daniele, Conti, Francesca, Moratti, Mattia, Cantarini, Maria E., Facchini, Elena, Rivalta, Beatrice, Rondelli, Roberto, Prete, Arcangelo, Ferrari, Simona, Seri, Marco, Pession, Andrea

“…Background Immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), and autoimmune neutropenia (AIN) are disorders characterized by immune‐mediated…”
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Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica) by Farruggia, Piero, Di Cataldo, Andrea, Pinto, Rita M., Palmisani, Elena, Macaluso, Alessandra, Valvo, Laura Lo, Cantarini, Maria E., Tornesello, Assunta, Corti, Paola, Fioredda, Francesca, Varotto, Stefania, Martire, Baldo, Moroni, Isabella, Puccio, Giuseppe, Russo, Giovanna, Dufour, Carlo, Pillon, Marta

“…Pearson syndrome (PS) is a very rare and often fatal multisystemic mitochondrial disorder involving the liver, kidney, pancreas, and hematopoietic and central…”
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A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? by Quarello, Paola, Garelli, Emanuela, Carando, Adriana, Cillario, Rebecca, Brusco, Alfredo, Giorgio, Elisa, Ferrante, Daniela, Corti, Paola, Zecca, Marco, Luciani, Matteo, Pierri, Filomena, Putti, Maria C., Cantarini, Maria E., Farruggia, Piero, Barone, Angelica, Cesaro, Simone, Russo, Giovanna, Fagioli, Franca, Dianzani, Irma, Ramenghi, Ugo

“…Summary Diamond–Blackfan anaemia (DBA) is a rare and heterogeneous disease characterised by hypoplastic anaemia, congenital anomalies and a predisposition for…”
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Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome by Badolato, Raffaele, Prandini, Alberto, Caracciolo, Sonia, Colombo, Francesca, Tabellini, Giovanna, Giacomelli, Mauro, Cantarini, Maria E, Pession, Andrea, Bell, Callum J, Dinwiddie, Darrell L, Miller, Neil A, Hateley, Shannon L, Saunders, Carol J, Zhang, Lu, Schroth, Gary P, Plebani, Alessandro, Parolini, Silvia, Kingsmore, Stephen F

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