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Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
Cetica V, Hackmann Y, Grieve S, Sieni E, Ciambotti B, Coniglio ML, Pende D, Gilmour K, Romagnoli P, Griffiths GM, Aricò M. Cetica V, et al. Among authors: coniglio ml. J Allergy Clin Immunol. 2015 May;135(5):1310-8.e1. doi: 10.1016/j.jaci.2014.08.039. Epub 2014 Oct 11. J Allergy Clin Immunol. 2015. PMID: 25312756 Free PMC article.
Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review.
Lucenteforte E, Vannacci A, Crescioli G, Lombardi N, Vagnoli L, Giunti L, Cetica V, Coniglio ML, Pugi A, Bonaiuti R, Aricò M, Giglio S, Messeri A, Barale R, Giovannelli L, Mugelli A, Maggini V. Lucenteforte E, et al. Among authors: coniglio ml. BMC Cancer. 2019 Jan 31;19(1):113. doi: 10.1186/s12885-019-5310-4. BMC Cancer. 2019. PMID: 30704436 Free PMC article.
Outcome of primary hemophagocytic lymphohistiocytosis: a report on 143 patients from the Italian Registry.
Pegoraro F, Chinnici A, Beneforti L, Tanturli M, Trambusti I, De Fusco C, Micalizzi C, Barat V, Cesaro S, Gaspari S, Dell'Acqua F, Todesco A, Timeus F, Aricò M, Favre C, Tondo A, Coniglio ML, Sieni E; AIEOP Histiocytosis Working Group. Pegoraro F, et al. Among authors: coniglio ml. Haematologica. 2024 Feb 22. doi: 10.3324/haematol.2023.283893. Online ahead of print. Haematologica. 2024. PMID: 38385274 Free article.
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: coniglio ml. 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.
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia.
Ciullini Mannurita S, Goda R, Schiavo E, Coniglio ML, Azzali A, Fotzi I, Tondo A, Tintori V, Frenos S, Sanvito MC, Vignoli M, Luceri C, Bigagli E, Grassi A, D'Elios MM, Favre C, Gambineri E. Ciullini Mannurita S, et al. Among authors: coniglio ml. Front Immunol. 2021 Jan 15;11:620046. doi: 10.3389/fimmu.2020.620046. eCollection 2020. Front Immunol. 2021. PMID: 33519826 Free PMC article.
18 results