Sfoglia per Autore
Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells
2024 Donsante, S; Pievani, A; Palmisano, B; Finamore, M; Fazio, G; Corsi, A; Biondi, A; Tomatsu, S; Piazza, R; Serafini, M; Riminucci, M
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations (Journal of Clinical Immunology, (2023), 43, 8, (2115-2125), 10.1007/s10875-023-01584-7)
2023 Saettini, F; Guerra, F; Fazio, G; Bugarin, C; Mcmillan, H; Ohtake, A; Ardissone, A; Itoh, M; Giglio, S; Cappuccio, G; Giardino, G; Romano, R; Quadri, M; Gasperini, S; Moratto, D; Chiarini, M; Ishiguro, A; Fukuhara, Y; Hayakawa, I; Okazaki, Y; Mauri, M; Piazza, R; Cazzaniga, G; Biondi, A
Antibody Deficiency in Patients with Biallelic KARS1 Mutations
2023 Saettini, F; Guerra, F; Fazio, G; Bugarin, C; Mcmillan, H; Ohtake, A; Ardissone, A; Itoh, M; Giglio, S; Cappuccio, G; Giardino, G; Romano, R; Quadri, M; Gasperini, S; Moratto, D; Chiarini, M; Akira, I; Fukuhara, Y; Hayakawa, I; Okazaki, Y; Mauri, M; Piazza, R; Cazzaniga, G; Biondi, A
The chemerin/CMKLR1 axis regulates intestinal graft-versus-host disease
2023 Dander, E; Vinci, P; Vetrano, S; Recordati, C; Piazza, R; Fazio, G; Bardelli, D; Bugatti, M; Sozio, F; Piontini, A; Bonanomi, S; Bertola, L; Tassistro, E; Valsecchi, M; Calza, S; Vermi, W; Biondi, A; Del Prete, A; Sozzani, S; D'Amico, G
PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120
2022 Fazio, G; Bresolin, S; Silvestri, D; Quadri, M; Saitta, C; Vendramini, E; Buldini, B; Palmi, C; Bardini, M; Grioni, A; Rigamonti, S; Galbiati, M; Mecca, S; Savino, A; Peloso, A; Tu, J; Bhatia, S; Borkhardt, A; Micalizzi, C; Lo Nigro, L; Locatelli, F; Conter, V; Rizzari, C; Valsecchi, M; Te Kronnie, G; Biondi, A; Cazzaniga, G
HDAC6 inhibition decreases leukemic stem cell expansion driven by Hedgehog hyperactivation by restoring primary ciliogenesis
2022 Pezzotta, A; Gentile, I; Genovese, D; Totaro, M; Battaglia, C; Leung, A; Fumagalli, M; Parma, M; Cazzaniga, G; Fazio, G; Alcalay, M; Marozzi, A; Pistocchi, A
Conjoined Genes as Common Events in Childhood Acute Lymphoblastic Leukemia
2022 Severgnini, M; D'Angiò, M; Bungaro, S; Cazzaniga, G; Cifola, I; Fazio, G
Potential role of STAG1 mutations in genetic predisposition to childhood hematological malignancies
2022 Saitta, C; Rebellato, S; Bettini, L; Giudici, G; Panini, N; Erba, E; Massa, V; Auer, F; Friedrich, U; Hauer, J; Biondi, A; Fazio, G; Cazzaniga, G
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype
2022 Saettini, F; Fazio, G; Bonati, M; Moratto, D; Massa, V; Di Fede, E; Castiglioni, S; Marchetti, D; Chiarini, M; Sottini, A; Iascone, M; Cazzaniga, G; Imberti, L; Biondi, A; Gervasini, C; Badolato, R
Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma
2022 Schedel, A; Friedrich, U; Morcos, M; Wagener, R; Mehtonen, J; Watrin, T; Saitta, C; Brozou, T; Michler, P; Walter, C; Forsti, A; Baksi, A; Menzel, M; Horak, P; Paramasivam, N; Fazio, G; Autry, R; Frohling, S; Suttorp, M; Gertzen, C; Gohlke, H; Bhatia, S; Wadt, K; Schmiegelow, K; Dugas, M; Richter, D; Glimm, H; Heinaniemi, M; Jessberger, R; Cazzaniga, G; Borkhardt, A; Hauer, J; Auer, F
A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2
2021 Saettini, F; Castelli, I; Provenzi, M; Fazio, G; Quadri, M; Cazzaniga, G; Sala, S; Dell'Acqua, F; Sieni, E; Coniglio, M; Pezzoli, L; Iascone, M; Vendemini, F; Balduzzi, A; Biondi, A; Rizzari, C; Bonanomi, S
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis
2021 Saettini, F; Fazio, G; Moratto, D; Galbiati, M; Zucchini, N; Ippolito, D; Dinelli, M; Imberti, L; Mauri, M; Melzi, M; Bonanomi, S; Gerussi, A; Pinelli, M; Barisani, C; Bugarin, C; Chiarini, M; Giacomelli, M; Piazza, R; Cazzaniga, G; Invernizzi, P; Giliani, S; Badolato, R; Biondi, A
Potential and pitfalls of whole transcriptome-based immunogenetic marker identification in acute lymphoblastic leukemia; a EuroMRD and EuroClonality-NGS Working Group study
2021 van der Velden, V; Bruggemann, M; Cazzaniga, G; Scheijen, B; Tops, B; Trka, J; Pal, K; Hanzelmann, S; Fazio, G; Songia, S; Langerak, A; Darzentas, N; van der Velden, V
Recurrent genetic fusions redefine MLL germ line acute lymphoblastic leukemia in infants
2021 Fazio, G; Bardini, M; De Lorenzo, P; Grioni, A; Quadri, M; Pedace, L; Corral Abascal, L; Palamini, S; Palmi, C; Buldini, B; Vinti, L; Parasole, R; Barisone, E; Zecca, M; Favre, C; Locatelli, F; Conter, V; Rizzari, C; Valsecchi, M; Biondi, A; Cazzaniga, G
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
2021 Saettini, F; Poli, C; Vengoechea, J; Bonanomi, S; Orellana, J; Fazio, G; Rodriguez III, F; Noguera, L; Booth, C; Jarur-Chamy, V; Shams, M; Iascone, M; Vukic, M; Gasperini, S; Quadri, M; Seijas, A; Rivers, E; Mauri, M; Badolato, R; Cazzaniga, G; Bugarin, C; Gaipa, G; Kroes, W; Moratto, D; van Oostaijen-Ten Dam, M; Baas, F; van der Maarel, S; Piazza, R; Coban-Akdemir, Z; Lupski, J; Yuan, B; Chinn, I; Daxinger, L; Biondi, A
Validation of the EuroClonality-NGS DNA capture panel as an integrated genomic tool for lymphoproliferative disorders
2021 Stewart, J; Gazdova, J; Darzentas, N; Wren, D; Proszek, P; Fazio, G; Songia, S; Alcoceba, M; Sarasquete, M; Villarese, P; Van Der Klift, M; Heezen, K; Mccafferty, N; Pal, K; Catherwood, M; Kim, C; Srivastava, S; Kroeze, L; Hodges, E; Stamatopoulos, K; Klapper, W; Genuardi, E; Ferrero, S; Van Den Brand, M; Cazzaniga, G; Davi, F; Sutton, L; Garcia-Sanz, R; Groenen, P; Macintyre, E; Bruggemann, M; Pott, C; Langerak, A; Gonzalez, D
Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations
2020 Saettini, F; Fazio, G; Corti, P; Quadri, M; Bugarin, C; Gaipa, G; Penco, F; Moratto, D; Chiarini, M; Baronio, M; Gazzurelli, L; Imberti, L; Paghera, S; Giliani, S; Cazzaniga, G; Plebani, A; Badolato, R; Lougaris, V; Gattorno, M; Biondi, A
Dysregulation of NIPBL leads to impaired RUNX1 expression and haematopoietic defects
2020 Mazzola, M; Pezzotta, A; Fazio, G; Rigamonti, A; Bresciani, E; Gaudenzi, G; Pelleri, M; Saitta, C; Ferrari, L; Parma, M; Fumagalli, M; Biondi, A; Cazzaniga, G; Marozzi, A; Pistocchi, A
Single-cell profiling of pediatric T-cell acute lymphoblastic leukemia: Impact of PTEN exon 7 mutation on PI3K/Akt and JAK–STAT signaling pathways
2020 Bonaccorso, P; Bugarin, C; Buracchi, C; Fazio, G; Biondi, A; Lo Nigro, L; Gaipa, G
Implementation of RNA sequencing and array CGH in the diagnostic workflow of the AIEOP-BFM ALL 2017 trial on acute lymphoblastic leukemia
2020 Schieck, M; Lentes, J; Thomay, K; Hofmann, W; Behrens, Y; Hagedorn, M; Ebersold, J; Davenport, C; Fazio, G; Moricke, A; Buchmann, S; Alten, J; Cario, G; Schrappe, M; Bergmann, A; Stanulla, M; Steinemann, D; Schlegelberger, B; Cazzaniga, G; Gohring, G
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