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85 results

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Page 1
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Goodkey K, Wischmeijer A, Perrin L, Watson AES, Qureshi L, Cordelli DM, Toni F, Gnazzo M, Benedicenti F, Elmaleh-Bergès M, Low KJ, Voronova A. Goodkey K, et al. Among authors: benedicenti f. BMC Med. 2024 Apr 15;22(1):158. doi: 10.1186/s12916-024-03363-6. BMC Med. 2024. PMID: 38616269 Free PMC article.
Natural history of adults with KBG syndrome: a physician-reported experience.
Bayat A, Grimes H, de Boer E, Herlin MK, Dahl RS, Lund ICB, Bayat M, Skjelmose Bolund AC, Gjerulfsen CE, Gregersen PA, Zilmer M, Juhl S, Cebula K, Rahikkala E, Maystadt I, Peron A, Vignoli A, Alfano RM, Stanzial F, Benedicenti F, Currò A, Luk HM, Jouret G, Zurita E, Heuft L, Schnabel F, Busche A, Veenstra-Knol HE, Tkemaladze T, Vrielynck P, Lederer D, Platzer K, Ockeloen CW, Goel H, Low KJ. Bayat A, et al. Among authors: benedicenti f. Genet Med. 2024 May 27:101170. doi: 10.1016/j.gim.2024.101170. Online ahead of print. Genet Med. 2024. PMID: 38818797
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.
Cesana D, Cicalese MP, Calabria A, Merli P, Caruso R, Volpin M, Rudilosso L, Migliavacca M, Barzaghi F, Fossati C, Gazzo F, Pizzi S, Ciolfi A, Bruselles A, Tucci F, Spinozzi G, Pais G, Benedicenti F, Barcella M, Merelli I, Gallina P, Giannelli S, Dionisio F, Scala S, Casiraghi M, Strocchio L, Vinti L, Pacillo L, Draghi E, Cesana M, Riccardo S, Colantuono C, Six E, Cavazzana M, Carlucci F, Schmidt M, Cancrini C, Ciceri F, Vago L, Cacchiarelli D, Gentner B, Naldini L, Tartaglia M, Montini E, Locatelli F, Aiuti A. Cesana D, et al. Among authors: benedicenti f. Nat Commun. 2024 Apr 30;15(1):3662. doi: 10.1038/s41467-024-47866-5. Nat Commun. 2024. PMID: 38688902 Free PMC article.
Circulating hematopoietic stem/progenitor cell subsets contribute to human hematopoietic homeostasis.
Quaranta P, Basso-Ricci L, Jofra Hernandez R, Pacini G, Naldini MM, Barcella M, Seffin L, Pais G, Spinozzi G, Benedicenti F, Pietrasanta C, Cheong JG, Ronchi A, Pugni L, Dionisio F, Monti I, Giannelli S, Darin S, Fraschetta F, Barera G, Ferrua F, Calbi V, Ometti M, Di Micco R, Mosca F, Josefowicz SZ, Montini E, Calabria A, Bernardo ME, Cicalese MP, Gentner B, Merelli I, Aiuti A, Scala S. Quaranta P, et al. Among authors: benedicenti f. Blood. 2024 May 9;143(19):1937-1952. doi: 10.1182/blood.2023022666. Blood. 2024. PMID: 38446574 Free PMC article. Clinical Trial.
Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation.
Parmeggiani L, Stanzial F, Menna E, Boni E, Manzoni F, Benedicenti F, Pellegrin S. Parmeggiani L, et al. Among authors: benedicenti f. Epilepsy Behav Rep. 2023 Nov 14;24:100634. doi: 10.1016/j.ebr.2023.100634. eCollection 2023. Epilepsy Behav Rep. 2023. PMID: 38076278 Free PMC article.
Removal of innate immune barriers allows efficient transduction of quiescent human hematopoietic stem cells.
Valeri E, Unali G, Piras F, Abou-Alezz M, Pais G, Benedicenti F, Lidonnici MR, Cuccovillo I, Castiglioni I, Arévalo S, Spinozzi G, Merelli I, Behrendt R, Oo A, Kim B, Landau NR, Ferrari G, Montini E, Kajaste-Rudnitski A. Valeri E, et al. Among authors: benedicenti f. Mol Ther. 2024 Jan 3;32(1):124-139. doi: 10.1016/j.ymthe.2023.11.020. Epub 2023 Nov 20. Mol Ther. 2024. PMID: 37990494 Free article.
Hematopoietic reconstitution dynamics of mobilized- and bone marrow-derived human hematopoietic stem cells after gene therapy.
Scala S, Ferrua F, Basso-Ricci L, Dionisio F, Omrani M, Quaranta P, Jofra Hernandez R, Del Core L, Benedicenti F, Monti I, Giannelli S, Fraschetta F, Darin S, Albertazzi E, Galimberti S, Montini E, Calabria A, Cicalese MP, Aiuti A. Scala S, et al. Among authors: benedicenti f. Nat Commun. 2023 May 27;14(1):3068. doi: 10.1038/s41467-023-38448-y. Nat Commun. 2023. PMID: 37244942 Free PMC article. Clinical Trial.
85 results