SAETTINI, FRANCESCO

SAETTINI, FRANCESCO  

DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)  

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Risultati 1 - 20 di 28 (tempo di esecuzione: 0.042 secondi).
Titolo Tipologia Data di pubblicazione Autori File
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia 01 - Articolo su rivista 2025 Saettini, FrancescoGuerra, FabiolaMauri, MarioChinello, CliziaDenti, VannaFazio, GraziaMalighetti, FedericaPagani, LisaQuadri, ManuelRebellato, StefanoSavino, Angela MariaMagni, FulvioPaglia, GiuseppeCazzaniga, GianniPiazza, RoccoBiondi, Andrea +
Antibody Deficiency in Patients with Biallelic KARS1 Mutations 01 - Articolo su rivista 2023 Saettini F.Guerra F.Fazio G.Ardissone A.Quadri M.Mauri M.Piazza R.Cazzaniga G.Biondi A. +
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) 99 - Altro 2023 Saettini F.Guerra F.Fazio G.Ardissone A.Romano R.Quadri M.Gasperini S.Mauri M.Piazza R.Cazzaniga G.Biondi A. +
Finding balance between mature and immature neutrophils: The effects of empagliflozin in GSD-Ib 01 - Articolo su rivista 2023 Guerra, FabiolaBonanomi, SoniaCrescitelli, ViolaBiondi, AndreaSaettini, Francesco +
Isolated leukopenia in children and adolescents referred to a Pediatric Hematology Clinic 01 - Articolo su rivista 2023 Saettini F.Bonanomi S.Orlandi S.Biondi A.Balduzzi A.Coliva T.
SYNDROMES, GENETICS AND IMMUNOLOGY: FROM THE BEGINNING OF THE END TO THE END OF THE BEGINNING [Sindromi, genetica e immunologia: dall'inizio della fine alla fine dell'inizio] 01 - Articolo su rivista 2023 Guerra F.Saettini F.Biondi A.
Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome 01 - Articolo su rivista 2022 Saettini, FrancescoColiva, Tiziana AngelaGalbiati, MartaCazzaniga, GiovanniBiondi, Andrea +
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype 01 - Articolo su rivista 2022 Saettini F.Fazio G.Cazzaniga G.Biondi A. +
Pediatric immune myelofibrosis (PedIMF) as a novel and distinct clinical pathological entity 01 - Articolo su rivista 2022 Guerra, FabiolaL'Imperio, VincenzoBonanomi, SoniaSpinelli, MarcoColiva, Tiziana AngelaDell'Acqua, FabiolaFerrari, Giulia MariaCorti, PaolaBalduzzi, AdrianaBiondi, AndreaPagni, FabioSaettini, Francesco
Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient 01 - Articolo su rivista 2022 Saettini F.Ferrari G. M.Corti P.Ippolito D.Biondi A. +
A novel germline mutation of ada2 gene in two “discordant” homozygous female twins affected by adenosine deaminase 2 deficiency: Description of the bone-related phenotype 01 - Articolo su rivista 2021 Saettini F.Cattoni A. +
A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2 01 - Articolo su rivista 2021 Saettini F.Castelli I.Fazio G.Quadri M.Cazzaniga G.Balduzzi A. C.Biondi A.Rizzari C.Bonanomi S. +
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency 01 - Articolo su rivista 2021 Saettini F.Bonanomi S.Fazio G.Gasperini S.Quadri M.Mauri M.Cazzaniga G.Gaipa G.Piazza R.Biondi A. +
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis 01 - Articolo su rivista 2021 Saettini F.Fazio G.Ippolito D.Mauri M.Melzi M. L.Bonanomi S.Gerussi A.Piazza R.Cazzaniga G.Invernizzi P.Biondi A. +
Primary immunodeficiencies, autoimmune hyperthyroidism, coeliac disease and systemic lupus erythematosus in childhood immune thrombocytopenia 01 - Articolo su rivista 2021 Saettini F.Cattoni A.Ferrari G. M.Biondi A. +
Severe and recurrent infections identify severe congenital neutropenia and primary immunodeficiencies in pediatric isolated neutropenia 01 - Articolo su rivista 2021 Saettini F.Mantovani P.Biondi A.Bonanomi S. +
When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis 01 - Articolo su rivista 2021 Saettini F.Coliva T.Biondi A.Balduzzi A.Bonanomi S. +
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond-like syndrome 01 - Articolo su rivista 2020 Saettini, FCattoni, AD'Angiò, MCorti, PPagni, FBiondi, ABonanomi, S +
More than an ‘atypical’ phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy 01 - Articolo su rivista 2020 Saettini F.L'Imperio V.Fazio G.Cazzaniga G.Biondi A.Corti P. +
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients 01 - Articolo su rivista 2020 Saettini F.Biondi A. +