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Identification of a robust DNA methylation signature for Fanconi anemia.
Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M. Pagliara D, et al. Among authors: savoia a. Am J Hum Genet. 2023 Nov 2;110(11):1938-1949. doi: 10.1016/j.ajhg.2023.09.014. Epub 2023 Oct 20. Am J Hum Genet. 2023. PMID: 37865086 Free PMC article.
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.
Persico I, Fontana G, Faleschini M, Zanchetta ME, Ammeti D, Cappelli E, Corsolini F, Mosa C, Guarina A, Bogliolo M, Surrallés J, Dufour C, Farruggia P, Savoia A, Bottega R. Persico I, et al. Among authors: savoia a. Front Genet. 2023 Jul 20;14:1209138. doi: 10.3389/fgene.2023.1209138. eCollection 2023. Front Genet. 2023. PMID: 37547463 Free PMC article.
The role of skin tests with polyethylene glycol and polysorbate 80 in the vaccination campaign for COVID-19: results from an Italian multicenter survey.
Montera MC, Giordano A, Asperti C, Aruanno A, Barzaghi CE, Bignardi D, Borrelli P, Bommarito L, Busa M, Calafiore P, Carusi V, Cinquini M, Cortellini G, Cocchi R, D'Auria F, De Caro F, Demonte A, Di Leo E, Di Lizia M, Di Rienzo A, Fumagalli F, Kihlgren P, Lodi Rizzini F, Macchia D, Manzotti G, Marra AM, Mileto P, Mietta S, Montagni M, Nettis E, Nucera E, Peveri S, Pivetta D, Pirisi M, Ramirez GA, Rivolta F, Rizzi A, Savoia A, Pedicini A, Scarpa A, Zambito M, Zisa G, Yacoub MR. Montera MC, et al. Among authors: savoia a. Eur Ann Allergy Clin Immunol. 2024 Jan;56(1):17-25. doi: 10.23822/EurAnnACI.1764-1489.291. Epub 2023 Mar 16. Eur Ann Allergy Clin Immunol. 2024. PMID: 36927838 Free article.
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C, Pecci A, Palombo F, Melazzini F, Bottega R, Nardi E, Bozzi V, Faleschini M, Barozzi S, Giangregorio T, Magini P, Balduini CL, Savoia A, Seri M, Noris P, Pippucci T. Marconi C, et al. Among authors: savoia a. Haematologica. 2023 Jul 1;108(7):1909-1919. doi: 10.3324/haematol.2022.280993. Haematologica. 2023. PMID: 36519321 Free PMC article.
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G, Palladino V, Faleschini M, Barone A, Boscarol G, Cesaro S, Chiocca E, Farruggia P, Giona F, Gorio C, Maggio A, Marinoni M, Marzollo A, Palumbo G, Russo G, Saracco P, Spinelli M, Verzegnassi F, Morga F, Savoia A, Giordano P. Lassandro G, et al. Among authors: savoia a. Front Pediatr. 2022 Nov 22;10:967417. doi: 10.3389/fped.2022.967417. eCollection 2022. Front Pediatr. 2022. PMID: 36507135 Free PMC article.
219 results