Fanconi anemia - learning from children

por Svahn, Johanna, Dufour, Carlo
Publicado 2011

Clinical decision rules for infectious risk stratification of children with febrile neutropenia: Are we looking for the Yeti?

por Castagnola, Elio, Dufour, Carlo
Publicado 2020

Adding eltrombopag to immunosuppression: the importance of predicting outcome

por Tichelli, André, de Latour, Régis Peffault, Dufour, Carlo, Rovó, Alicia
Publicado 2022

Autoimmune Neutropenias: Update on Clinical and Biological Features in Children and Adults

por Fioredda, Francesca, Dufour, Carlo, Höglund, Petter, Papadaki, Helen A, Palmblad, Jan
Publicado 2022

Dysregulated Ca(2+) Homeostasis in Fanconi anemia cells

por Usai, Cesare, Ravera, Silvia, Cuccarolo, Paola, Panfoli, Isabella, Dufour, Carlo, Cappelli, Enrico, Degan, Paolo
Publicado 2015

A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A

por Cappelli, Enrico, Bertola, Nadia, Bruno, Silvia, Degan, Paolo, Regis, Stefano, Corsolini, Fabio, Banelli, Barbara, Dufour, Carlo, Ravera, Silvia
Publicado 2021

P791: WHOLE EXOME SEQUENCING IN ADULT PATIENTS WITH CHRONIC IDIOPATHIC NEUTROPENIA

por Grossi, Alice, Tsaknakis, Grigorios, Rusmini, Marta, Ceccherini, Isabella, Uva, Paolo, Miano, Maurizio, Mavroudi, Irene, Boutakoglou, Erasmia, Dufour, Carlo, Fioredda, Francesca, Papadaki, Helen
Publicado 2023

Fanconi Anemia Patients Are More Susceptible to Infection with Tumor Virus SV40

por Comar, Manola, De Rocco, Daniela, Cappelli, Enrico, Zanotta, Nunzia, Bottega, Roberta, Svahn, Johanna, Farruggia, Piero, Misuraca, Aldo, Corsolini, Fabio, Dufour, Carlo, Savoia, Anna
Publicado 2013

The passage from bone marrow niche to bloodstream triggers the metabolic impairment in Fanconi Anemia mononuclear cells

por Cappelli, Enrico, Degan, Paolo, Bruno, Silvia, Pierri, Filomena, Miano, Maurizio, Raggi, Federica, Farruggia, Piero, Mecucci, Cristina, Crescenzi, Barbara, Naim, Valeria, Dufour, Carlo, Ravera, Silvia
Publicado 2020

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

por Ravera, Silvia, Dufour, Carlo, Cesaro, Simone, Bottega, Roberta, Faleschini, Michela, Cuccarolo, Paola, Corsolini, Fabio, Usai, Cesare, Columbaro, Marta, Cipolli, Marco, Savoia, Anna, Degan, Paolo, Cappelli, Enrico
Publicado 2016

The Experience of the Cooperation in Science and Technology European Network for Innovative Diagnosis and Treatment of Chronic Neutropenias (COST EuNet-INNOCHRON) Action and the Sw...

por Spanoudakis, Michail, Dale, David C., Tran, Emily, Bartels, Marije, Kapor, Suncica, Guardo, Daniela, Roganovic, Jelena, Yacobovich, Joanne, Nilsson, Christer, Dufour, Carlo, Papadaki, Helen A., Palmblad, Jan
Publicado 2021

The role of androgen therapy in acquired aplastic anemia and other bone marrow failure syndromes

por Nassani, Momen, Fakih, Riad El, Passweg, Jakob, Cesaro, Simone, Alzahrani, Hazzaa, Alahmari, Ali, Bonfim, Carmem, Iftikhar, Raheel, Albeihany, Amal, Halkes, Constantijn, Ahmed, Syed Osman, Dufour, Carlo, Aljurf, Mahmoud
Publicado 2023

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients

por Grossi, Alice, Miano, Maurizio, Lanciotti, Marina, Fioredda, Francesca, Guardo, Daniela, Palmisani, Elena, Terranova, Paola, Santamaria, Giuseppe, Caroli, Francesco, Caorsi, Roberta, Volpi, Stefano, Gattorno, Marco, Dufour, Carlo, Ceccherini, Isabella
Publicado 2021

Mutational analysis of ribosomal proteins in a cohort of pediatric patients with T-cell acute lymphoblastic leukemia reveals Q123R, a novel mutation in RPL10

por Bacci, Lorenza, Indio, Valentina, Rambaldelli, Guglielmo, Bugarin, Cristina, Magliocchetti, Franco, Del Rio, Alberto, Pollutri, Daniela, Melchionda, Fraia, Pession, Andrea, Lanciotti, Marina, Dufour, Carlo, Gaipa, Giuseppe, Montanaro, Lorenzo, Penzo, Marianna
Publicado 2022

Hematopoietic stem cell transplantation for inborn errors of immunity: 30-year single-center experience

por Dell’Orso, Gianluca, Bagnasco, Francesca, Giardino, Stefano, Pierri, Filomena, Ferrando, Giulia, Di Martino, Daniela, Micalizzi, Concetta, Guardo, Daniela, Volpi, Stefano, Sabatini, Federica, Miano, Maurizio, Gattorno, Marco, Dufour, Carlo, Faraci, Maura
Publicado 2023

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation

por Persico, Ilaria, Fontana, Giorgia, Faleschini, Michela, Zanchetta, Melania Eva, Ammeti, Daniele, Cappelli, Enrico, Corsolini, Fabio, Mosa, Clara, Guarina, Angela, Bogliolo, Massimo, Surrallés, Jordi, Dufour, Carlo, Farruggia, Piero, Savoia, Anna, Bottega, Roberta
Publicado 2023

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

por Bottega, Roberta, Nicchia, Elena, Cappelli, Enrico, Ravera, Silvia, De Rocco, Daniela, Faleschini, Michela, Corsolini, Fabio, Pierri, Filomena, Calvillo, Michaela, Russo, Giovanna, Casazza, Gabriella, Ramenghi, Ugo, Farruggia, Piero, Dufour, Carlo, Savoia, Anna
Publicado 2018

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis

por Miano, Maurizio, Guardo, Daniela, Grossi, Alice, Palmisani, Elena, Fioredda, Francesca, Terranova, Paola, Cappelli, Enrico, Lupia, Michela, Traverso, Monica, Dell’Orso, Gianluca, Corsolini, Fabio, Beccaria, Andrea, Lanciotti, Marina, Ceccherini, Isabella, Dufour, Carlo
Publicado 2022

Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant

por Chianucci, Benedetta, Grossi, Alice, Dell’Orso, Gianluca, Palmisani, Elena, Lanciotti, Marina, Terranova, Paola, Pierri, Filomena, Lupia, Michela, Arcuri, Luca, Laurino, Marica, Ceccherini, Isabella, Beier, Fabian, Dufour, Carlo, Fioredda, Francesca, Miano, Maurizio
Publicado 2022

Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology

por Nicchia, Elena, Greco, Chiara, De Rocco, Daniela, Pecile, Vanna, D'Eustacchio, Angela, Cappelli, Enrico, Corti, Paola, Marra, Nicoletta, Ramenghi, Ugo, Pillon, Marta, Farruggia, Piero, Dufour, Carlo, Pallavicini, Alberto, Torelli, Lucio, Savoia, Anna
Publicado 2015