SAETTINI, FRANCESCO

SAETTINI, FRANCESCO  

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

Mostra records
Risultati 1 - 20 di 21 (tempo di esecuzione: 0.032 secondi).
Titolo Tipologia Data di pubblicazione Autori File
Ruptured hepatoblastoma: A case report and literature review 01 - Articolo su rivista 2013 SAETTINI, FRANCESCO +
Is multifocality a prognostic factor in childhood hepatoblastoma? 01 - Articolo su rivista 2014 SAETTINI, FRANCESCOROTA, MATTEO +
Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen 01 - Articolo su rivista 2017 Saettini, FSala, DBiondi, A +
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency 01 - Articolo su rivista 2018 Saettini, FrancescoGrioni, AndreaRizzari, CarmeloPavan, FabioSpinelli, MarcoBettini, Laura RacheleBiondi, Andrea +
Neutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome 01 - Articolo su rivista 2018 Saettini, FBiondi, A +
Clinical features of Epstein-Barr virus infection in primary immunodeficiency patients 01 - Articolo su rivista 2019 Saettini F.Biondi A. +
Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature 01 - Articolo su rivista 2019 Saettini, FCastelli, IRizzari, C +
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 +
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients 01 - Articolo su rivista 2020 Saettini F.Biondi A. +
Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations 01 - Articolo su rivista 2020 Saettini F.Fazio G.Quadri M.Cazzaniga G.Biondi A. +
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. +
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.Cazzaniga G.Gaipa G.Piazza R.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. +
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. +
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. +
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. +
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, FrancescoBonanomi, SoniaCattoni, Alessandro +
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. +
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. +
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. +