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2018 1
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Page 1
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
Roncareggi S, Girardi K, Fioredda F, Pedace L, Arcuri L, Badolato R, Bonanomi S, Borlenghi E, Cirillo E, Coliva T, Consonni F, Conti F, Farruggia P, Gambineri E, Guerra F, Locatelli F, Mancuso G, Marzollo A, Masetti R, Micalizzi C, Onofrillo D, Piccini M, Pignata C, Raddi MG, Santini V, Vendemini F, Biondi A, Saettini F. Roncareggi S, et al. Among authors: arcuri l. J Clin Immunol. 2023 Nov;43(8):2192-2207. doi: 10.1007/s10875-023-01583-8. Epub 2023 Oct 14. J Clin Immunol. 2023. PMID: 37837580
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant.
Chianucci B, Grossi A, Dell'Orso G, Palmisani E, Lanciotti M, Terranova P, Pierri F, Lupia M, Arcuri L, Laurino M, Ceccherini I, Beier F, Dufour C, Fioredda F, Miano M. Chianucci B, et al. Among authors: arcuri l. Int J Mol Sci. 2022 Nov 22;23(23):14535. doi: 10.3390/ijms232314535. Int J Mol Sci. 2022. PMID: 36498862 Free PMC article.
Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita.
Fioredda F, Iacobelli S, Korthof ET, Knol C, van Biezen A, Bresters D, Veys P, Yoshimi A, Fagioli F, Mats B, Zecca M, Faraci M, Miano M, Arcuri L, Maschan M, O'Brien T, Diaz MA, Sevilla J, Smith O, Peffault de Latour R, de la Fuente J, Or R, Van Lint MT, Tolar J, Aljurf M, Fisher A, Skorobogatova EV, Diaz de Heredia C, Risitano A, Dalle JH, Sedláček P, Ghavamzadeh A, Dufour C. Fioredda F, et al. Among authors: arcuri l. Br J Haematol. 2018 Oct;183(1):110-118. doi: 10.1111/bjh.15495. Epub 2018 Jul 9. Br J Haematol. 2018. PMID: 29984823 Free article.
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.
Miano M, Bertola N, Grossi A, Dell'Orso G, Regis S, Rusmini M, Uva P, Vozzi D, Fioredda F, Palmisani E, Lupia M, Lanciotti M, Grilli F, Corsolini F, Arcuri L, Giarratana MC, Ceccherini I, Dufour C, Cappelli E, Ravera S. Miano M, et al. Among authors: arcuri l. Int J Mol Sci. 2024 Feb 8;25(4):2083. doi: 10.3390/ijms25042083. Int J Mol Sci. 2024. PMID: 38396760 Free PMC article.