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Alfredo Brusco
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Journal Articles

Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia

Francesco Saettini, Fabiola Guerra, Mario Mauri, Grazia Fazio, Cristina Bugarin, Manuel Quadri, Stefano Rebellato, Clizia Chinello, Lisa Pagani, Federica Malighetti, Luis González Gutiérrez-Solana, Vanna Denti, Fatemeh Emam Mousavi, Miquell Raspall-Chaure, Martin-Nalda Andrea, Estibaliz Barredo, David Adams, O'Leary Melanie, Precilla D'Souza, Ellen Macnamara, Sergio Rosenzweig, Hye Sun Kuehn, Jennifer Stoddard, Heather C Mefford, Giorgia Mandrile, Lisa Pavinato, Alfredo Brusco, Patricia Valentina Velez Santamaria, Aurora Pujol, Vincent Michaud, Agathe Roubertie, Zoe Nelson, Margaret P Adam, Bernice Lo, Holm Uhlig, Claire G Salter, Emma Baple, Andrew H Crosby, Sanil Bhatia, Fulvio Magni, Giuseppe Paglia, Giovanni Cazzaniga, Rocco Piazza, Andrea Biondi, Matteo Barberis
Journal: Blood
Blood (2023) 142 (Supplement 1): 153.
https://doi.org/10.1182/blood-2023-185551
Published: 2023
Journal Articles

High Frequency of Large Gene Deletions Detected by Multiplex Ligation-Dependent Probe Amplification in Diamond Blackfan Anemia,

Paola Quarello, MD, Emanuela Garelli, PhD, Bsc, Adriana Carando, Bsc, Patrizia Pappi, Bsc, Alfredo Brusco, MD, PhD, Irma Dianzani, MD PhD, Ugo Ramenghi, MD
Journal: Blood
Blood (2011) 118 (21): 3428.
https://doi.org/10.1182/blood.V118.21.3428.3428
Published: 2011
Journal Articles

High Frequency of RPL11 Gene Mutation in Italian Patients with Diamond-Blackfan Anemia

Paola Quarello, Emanuela Garelli, Adriana Carando, Maria Francesca Campagnoli, Alfredo Brusco, Irma Dianzani, Ugo Ramenghi
Journal: Blood
Blood (2008) 112 (11): 3100.
https://doi.org/10.1182/blood.V112.11.3100.3100
Published: 2008
Journal Articles

Somatic Mosaicism and Variable Expressivity in Diamond Blackfan Anemia (DBA): A Large Deletion Involving the 19q13 Locus in a Patient with Transient Anemia.

Emanuela Garelli, PhD, BSc, Paola Quarello, MD, MariaFrancesca Campagnoli, MD, Alfredo Brusco, PhD, BSc, Adriana Carando, BSc, Elisa Menegatti, BSc, Nicoletta Crescenzio, BSc, Luiselda Foglia, BSc, Irma Dianzani, MD, PhD, Ugo Ramenghi, MD
Journal: Blood
Blood (2005) 106 (11): 3550.
https://doi.org/10.1182/blood.V106.11.3550.3550
Published: 2005
Journal Articles

Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

Thiébaut-Noël Willig, Natalia Draptchinskaia, Irma Dianzani, Sarah Ball, Charlotte Niemeyer, Ugo Ramenghi, Karen Orfali, Peter Gustavsson, Emanuela Garelli, Alfredo Brusco, Christian Tiemann, Jean Louis Pérignon, Christiane Bouchier, Lawrence Cicchiello, Niklas Dahl, Narla Mohandas, Gil Tchernia
Journal: Blood
Blood (1999) 94 (12): 4294–4306.
https://doi.org/10.1182/blood.V94.12.4294
Published: 1999