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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 1
2004 1
2005 3
2006 2
2007 1
2008 1
2009 3
2010 2
2011 1
2013 5
2014 4
2015 1
2016 3
2017 2
2018 1
2019 2
2021 1
2022 2
2023 3
2024 1

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39 results

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Page 1
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: corsolini f. Front Genet. 2023 Jul 20;14:1209138. doi: 10.3389/fgene.2023.1209138. eCollection 2023. Front Genet. 2023. PMID: 37547463 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: corsolini f. Haematologica. 2022 Mar 1;107(3):750-754. doi: 10.3324/haematol.2021.279689. Haematologica. 2022. PMID: 34788986 Free PMC article. No abstract available.
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Miano M, Guardo D, Grossi A, Palmisani E, Fioredda F, Terranova P, Cappelli E, Lupia M, Traverso M, Dell'Orso G, Corsolini F, Beccaria A, Lanciotti M, Ceccherini I, Dufour C. Miano M, et al. Among authors: corsolini f. Front Immunol. 2022 May 17;13:869033. doi: 10.3389/fimmu.2022.869033. eCollection 2022. Front Immunol. 2022. PMID: 35655776 Free PMC article.
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Bottega R, Nicchia E, Cappelli E, Ravera S, De Rocco D, Faleschini M, Corsolini F, Pierri F, Calvillo M, Russo G, Casazza G, Ramenghi U, Farruggia P, Dufour C, Savoia A. Bottega R, et al. Among authors: corsolini f. Haematologica. 2018 Mar;103(3):417-426. doi: 10.3324/haematol.2017.176131. Epub 2017 Dec 21. Haematologica. 2018. PMID: 29269525 Free PMC article.
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
Miano M, Cappelli E, Pezzulla A, Venè R, Grossi A, Terranova P, Palmisani E, Maggiore R, Guardo D, Lanza T, Calvillo M, Micalizzi C, Pierri F, Vernarecci C, Beccaria A, Corsolini F, Lanciotti M, Russo G, Ceccherini I, Dufour C, Fioredda F. Miano M, et al. Among authors: corsolini f. Br J Haematol. 2019 Nov;187(4):502-508. doi: 10.1111/bjh.16098. Epub 2019 Jul 15. Br J Haematol. 2019. PMID: 31309545 Free article.
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?
Bottega R, Napolitano LMR, Carbone A, Cappelli E, Corsolini F, Onesti S, Savoia A, Gasparini P, Faletra F. Bottega R, et al. Among authors: corsolini f. Mol Genet Genomic Med. 2019 May;7(5):e639. doi: 10.1002/mgg3.639. Epub 2019 Mar 28. Mol Genet Genomic Med. 2019. PMID: 30924321 Free PMC article.
39 results