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Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.
Sini MC, Doro MG, Frogheri L, Zinellu A, Paliogiannis P, Porcu A, Scognamillo F, Delogu D, Santeufemia DA, Persico I, Palomba G, Maestrale GB, Cossu A, Palmieri G. Sini MC, et al. Among authors: persico i. J Transl Med. 2024 Jan 27;22(1):108. doi: 10.1186/s12967-024-04923-3. J Transl Med. 2024. PMID: 38280995 Free PMC article.
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Persico I, Feresin A, Faleschini M, Fontana G, Sirchia F, Faletra F, La Bianca M, Suergiu S, Morgutti M, Maschio M, D'Adamo AP, Raraigh KS, Savoia A, Bottega R. Persico I, et al. Mol Genet Genomic Med. 2022 Jun;10(6):e1926. doi: 10.1002/mgg3.1926. Epub 2022 Mar 29. Mol Genet Genomic Med. 2022. PMID: 35348309 Free PMC article.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Bottega R, Marzollo A, Marinoni M, Athanasakis E, Persico I, Bianco AM, Faleschini M, Valencic E, Simoncini D, Rossini L, Corsolini F, La Bianca M, Robustelli G, Gabelli M, Agosti M, Biffi A, Grotto P, Bozzi V, Noris P, Burlina AB, D'Adamo AP, Tommasini A, Faletra F, Pastore A, Savoia A. Bottega R, et al. Among authors: persico i. Haematologica. 2022 Mar 1;107(3):750-754. doi: 10.3324/haematol.2021.279689. Haematologica. 2022. PMID: 34788986 Free PMC article. No abstract available.
41 results