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273 results

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Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.
Amico G, Hemphill WO, Severino M, Moratti C, Pascarella R, Bertamino M, Napoli F, Volpi S, Rosamilia F, Signa S, Perrino F, Zedde M, Ceccherini I, On Behalf Of The Gaslini Stroke Study Group. Amico G, et al. Among authors: volpi s. Genes (Basel). 2022 Jun 30;13(7):1179. doi: 10.3390/genes13071179. Genes (Basel). 2022. PMID: 35885962 Free PMC article.
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: volpi s. Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017. Front Immunol. 2018. PMID: 29434583 Free PMC article.
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Papa R, Rusmini M, Volpi S, Caorsi R, Picco P, Grossi A, Caroli F, Bovis F, Musso V, Obici L, Castana C, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M. Papa R, et al. Among authors: volpi s. Rheumatology (Oxford). 2020 Feb 1;59(2):344-360. doi: 10.1093/rheumatology/kez270. Rheumatology (Oxford). 2020. PMID: 31325311
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Papa R, Rusmini M, Volpi S, Caorsi R, Picco P, Grossi A, Caroli F, Bovis F, Musso V, Obici L, Castana C, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M. Papa R, et al. Among authors: volpi s. Rheumatology (Oxford). 2020 Feb 1;59(2):458. doi: 10.1093/rheumatology/kez376. Rheumatology (Oxford). 2020. PMID: 31410474 No abstract available.
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.
Schena F, Penco F, Volpi S, Pastorino C, Caorsi R, Kalli F, Fenoglio D, Salis A, Bertoni A, Prigione I, Bocca P, Insalaco A, De Benedetti F, Antonini F, Grossi A, Signa S, Damonte G, Ceccherini I, Filaci G, Traggiai E, Gattorno M. Schena F, et al. Among authors: volpi s. Eur J Immunol. 2021 Jan;51(1):206-219. doi: 10.1002/eji.202048549. Epub 2020 Aug 28. Eur J Immunol. 2021. PMID: 32707604 Free article.
An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy.
Bertamino M, Signa S, Vagelli G, Caorsi R, Zanetti A, Volpi S, Losurdo G, Amico G, Dodi I, Prato G, Ronchetti AB, Di Rocco M, Nagel M, Severino M. Bertamino M, et al. Among authors: volpi s. Quant Imaging Med Surg. 2021 Jan;11(1):463-471. doi: 10.21037/qims-20-628. Quant Imaging Med Surg. 2021. PMID: 33392044 Free PMC article. No abstract available.
The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.
Oliveira Mendonça L, Matucci-Cerinic C, Terranova P, Casabona F, Bovis F, Caorsi R, Fioredda F, Palmisani E, Grossi A, Guardo D, Bustaffa M, Volpi S, Ceccherini I, Ravelli A, Dufour C, Miano M, Gattorno M. Oliveira Mendonça L, et al. Among authors: volpi s. Rheumatology (Oxford). 2022 Feb 2;61(2):696-704. doi: 10.1093/rheumatology/keab361. Rheumatology (Oxford). 2022. PMID: 33909886
Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood.
Bertamino M, Signa S, Veneruso M, Prato G, Caorsi R, Losurdo G, Teutonico F, Esposito S, Formica F, Tovaglieri N, Nagel MA, Amico G, Zanetti A, Tortora D, Rossi A, Moretti P, Gattorno M, Ravelli A, Severino M; in behalf of Gaslini Stroke Study Group. Bertamino M, et al. J Neurol. 2021 Dec;268(12):4846-4865. doi: 10.1007/s00415-021-10606-6. Epub 2021 May 27. J Neurol. 2021. PMID: 34046727
273 results