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Page 1
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.
Caorsi R, Rusmini M, Volpi S, Chiesa S, Pastorino C, Sementa AR, Uva P, Grossi A, Lanino E, Faraci M, Minoia F, Signa S, Picco P, Martini A, Ceccherini I, Gattorno M. Caorsi R, et al. Among authors: rusmini m. Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017. Front Immunol. 2018. PMID: 29434583 Free PMC article.
ADA2 deficiency due to a novel structural variation in 22q11.1.
Grossi A, Cusano R, Rusmini M, Penco F, Schena F, Podda RA, Caorsi R, Gattorno M, Uva P, Ceccherini I. Grossi A, et al. Among authors: rusmini m. Clin Genet. 2019 Jun;95(6):732-733. doi: 10.1111/cge.13518. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30920658 No abstract available.
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Papa R, Rusmini M, Schena F, Traggiai E, Coccia MC, Caorsi R, Arrigo S, Pasetti F, Signa S, Barone P, Santamaria G, Spirito G, Sanges R, Vozzi D, Cavalli A, Gustincich S, Ravelli A, Gattorno M, Ceccherini I, Volpi S. Papa R, et al. Among authors: rusmini m. Clin Immunol. 2021 Oct;231:108837. doi: 10.1016/j.clim.2021.108837. Epub 2021 Aug 26. Clin Immunol. 2021. PMID: 34455097
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.
Del Borrello G, Miano M, Micalizzi C, Lupia M, Ceccherini I, Grossi A, Cavalli A, Gustincich S, Rusmini M, Faraci M, Dell'Orso G, Ramenghi U, Mesini A, Ricci E, Schiavone M, Di Iorgi N, Dufour C. Del Borrello G, et al. Among authors: rusmini m. Front Immunol. 2022 May 19;13:893000. doi: 10.3389/fimmu.2022.893000. eCollection 2022. Front Immunol. 2022. PMID: 35663969 Free PMC article.
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
Tabarini N, Biagi E, Uva P, Iovino E, Pippucci T, Seri M, Cavalli A, Ceccherini I, Rusmini M, Viti F. Tabarini N, et al. Among authors: rusmini m. Int J Mol Sci. 2022 Oct 26;23(21):12977. doi: 10.3390/ijms232112977. Int J Mol Sci. 2022. PMID: 36361767 Free PMC article. Review.
Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?
Grossi A, Rusmini M, Cusano R, Massidda M, Santamaria G, Napoli F, Angelelli A, Fava D, Uva P, Ceccherini I, Maghnie M. Grossi A, et al. Among authors: rusmini m. Front Genet. 2023 Aug 7;14:1031074. doi: 10.3389/fgene.2023.1031074. eCollection 2023. Front Genet. 2023. PMID: 37609037 Free PMC article.
Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.
Rusmini M, Griseri P, Lantieri F, Matera I, Hudspeth KL, Roberto A, Mikulak J, Avanzini S, Rossi V, Mattioli G, Jasonni V, Ravazzolo R, Pavan WJ, Pini-Prato A, Ceccherini I, Mavilio D. Rusmini M, et al. PLoS One. 2013;8(3):e59066. doi: 10.1371/journal.pone.0059066. Epub 2013 Mar 18. PLoS One. 2013. PMID: 23527089 Free PMC article.
29 results