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104 results

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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: uva p. 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: uva p. 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.
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: uva p. 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.
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: uva p. Int J Mol Sci. 2024 Feb 8;25(4):2083. doi: 10.3390/ijms25042083. Int J Mol Sci. 2024. PMID: 38396760 Free PMC article.
Spontaneous NLRP3 inflammasome-driven IL-1-β secretion is induced in severe COVID-19 patients and responds to anakinra treatment.
Bertoni A, Penco F, Mollica H, Bocca P, Prigione I, Corcione A, Cangelosi D, Schena F, Del Zotto G, Amaro A, Paladino N, Pontali E, Feasi M, Signa S, Bustaffa M, Caorsi R, Palmeri S, Contini P, De Palma R, Pfeffer U, Uva P, Rubartelli A, Gattorno M, Volpi S. Bertoni A, et al. Among authors: uva p. J Allergy Clin Immunol. 2022 Oct;150(4):796-805. doi: 10.1016/j.jaci.2022.05.029. Epub 2022 Jul 11. J Allergy Clin Immunol. 2022. PMID: 35835255 Free PMC article.
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.
Riva A, Nobile G, Giacomini T, Ognibene M, Scala M, Balagura G, Madia F, Accogli A, Romano F, Tortora D, Severino M, Scudieri P, Baldassari S, Musante I, Uva P, Salpietro V, Torella A, Nigro V, Capra V, Nobili L, Striano P, Mancardi MM, Zara F, Iacomino M. Riva A, et al. Among authors: uva p. Front Pediatr. 2022 Apr 29;10:847549. doi: 10.3389/fped.2022.847549. eCollection 2022. Front Pediatr. 2022. PMID: 35573960 Free PMC article.
In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott-Aldrich Syndrome Protein-Deficient B Cells.
Castiello MC, Pala F, Sereni L, Draghici E, Inverso D, Sauer AV, Schena F, Fontana E, Radaelli E, Uva P, Cervantes-Luevano KE, Benvenuti F, Poliani PL, Iannacone M, Traggiai E, Villa A, Bosticardo M. Castiello MC, et al. Among authors: uva p. Front Immunol. 2017 May 2;8:490. doi: 10.3389/fimmu.2017.00490. eCollection 2017. Front Immunol. 2017. PMID: 28512459 Free PMC article.
104 results