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195 results

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Page 1
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, 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. Saettini F, et al. Among authors: quadri m. J Clin Immunol. 2023 Nov;43(8):2115-2125. doi: 10.1007/s10875-023-01584-7. Epub 2023 Sep 28. J Clin Immunol. 2023. PMID: 37770806
A Simple RNA Target Capture NGS Strategy for Fusion Genes Assessment in the Diagnostics of Pediatric B-cell Acute Lymphoblastic Leukemia.
Grioni A, Fazio G, Rigamonti S, Bystry V, Daniele G, Dostalova Z, Quadri M, Saitta C, Silvestri D, Songia S, Storlazzi CT, Biondi A, Darzentas N, Cazzaniga G. Grioni A, et al. Among authors: quadri m. Hemasphere. 2019 Jun 4;3(3):e250. doi: 10.1097/HS9.0000000000000250. eCollection 2019 Jun. Hemasphere. 2019. PMID: 31723839 Free PMC article.
Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations.
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. Saettini F, et al. Among authors: quadri m. Clin Immunol. 2020 Sep;218:108525. doi: 10.1016/j.clim.2020.108525. Epub 2020 Jul 11. Clin Immunol. 2020. PMID: 32659374
A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2.
Saettini F, Castelli I, Provenzi M, Fazio G, Quadri M, Cazzaniga G, Sala S, Dell'Acqua F, Sieni E, Coniglio ML, Pezzoli L, Iascone M, Vendemini F, Balduzzi AC, Biondi A, Rizzari C, Bonanomi S. Saettini F, et al. Among authors: quadri m. Pediatr Hematol Oncol. 2021 Mar;38(2):174-178. doi: 10.1080/08880018.2020.1793849. Epub 2020 Jul 22. Pediatr Hematol Oncol. 2021. PMID: 32696691 No abstract available.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas A, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, van Oostaijen-Ten Dam MM, Baas F, van der Maarel S, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A. Saettini F, et al. Among authors: quadri m. Blood. 2021 Jan 28;137(4):493-499. doi: 10.1182/blood.2020006441. Blood. 2021. PMID: 32905580 Free PMC article.
PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120.
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 AM, Peloso A, Tu JW, Bhatia S, Borkhardt A, Micalizzi C, Lo Nigro L, Locatelli F, Conter V, Rizzari C, Valsecchi MG, Te Kronnie G, Biondi A, Cazzaniga G. Fazio G, et al. Among authors: quadri m. EBioMedicine. 2022 Sep;83:104224. doi: 10.1016/j.ebiom.2022.104224. Epub 2022 Aug 16. EBioMedicine. 2022. PMID: 35985167 Free PMC article.
High-throughput screening as a drug repurposing strategy for poor outcome subgroups of pediatric B-cell precursor Acute Lymphoblastic Leukemia.
Oikonomou A, Valsecchi L, Quadri M, Watrin T, Scharov K, Procopio S, Tu JW, Vogt M, Savino AM, Silvestri D, Valsecchi MG, Biondi A, Borkhardt A, Bhatia S, Cazzaniga G, Fazio G, Bardini M, Palmi C. Oikonomou A, et al. Among authors: quadri m. Biochem Pharmacol. 2023 Nov;217:115809. doi: 10.1016/j.bcp.2023.115809. Epub 2023 Sep 17. Biochem Pharmacol. 2023. PMID: 37717691 Free article.
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, 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. Saettini F, et al. Among authors: quadri m. J Clin Immunol. 2023 Nov;43(8):2126. doi: 10.1007/s10875-023-01600-w. J Clin Immunol. 2023. PMID: 37921915 No abstract available.
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F, Guerra F, Mauri M, Salter CG, Adam MP, Adams D, Baple EL, Barredo E, Bhatia S, Borkhardt A, Brusco A, Bugarin C, Chinello C, Crosby AH, D'Souza P, Denti V, Fazio G, Giuliani S, Kuehn HS, Amel H, Elmi A, Lo B, Malighetti F, Mandrile G, Martín-Nalda A, Mefford HC, Moratto D, Emam Mousavi F, Nelson Z, Gutiérrez-Solana LG, Macnamara E, Michaud V, O'Leary M, Pagani L, Pavinato L, Santamaria PV, Planas-Serra L, Quadri M, Raspall-Chaure M, Rebellato S, Rosenzweig SD, Roubertie A, Holzinger D, Deal C, Vockley CW, Savino AM, L Stoddard J, Uhlig HH, Pujol A, Magni F, Paglia G, Cazzaniga G, Piazza R, Barberis M, Biondi A. Saettini F, et al. Among authors: quadri m. J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. J Clin Immunol. 2024. PMID: 39312004
Recurrent genetic fusions redefine MLL germ line acute lymphoblastic leukemia in infants.
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 MG, Biondi A, Cazzaniga G. Fazio G, et al. Among authors: quadri m. Blood. 2021 Apr 8;137(14):1980-1984. doi: 10.1182/blood.2020009032. Blood. 2021. PMID: 33512459 Free article. No abstract available.
195 results