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

Year Number of Results
1998 1
1999 1
2000 1
2001 2
2002 1
2003 2
2004 1
2005 3
2007 1
2008 1
2009 1
2012 1
2013 1
2015 2
2018 3
2019 1
2020 1
2021 2
2022 3
2023 5
2024 2

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31 results

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Page 1
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C. Forte G, et al. Among authors: cariola f. Int J Mol Sci. 2023 Dec 12;24(24):17388. doi: 10.3390/ijms242417388. Int J Mol Sci. 2023. PMID: 38139222 Free PMC article. Review.
Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort.
Pantaleo A, Forte G, Cariola F, Valentini AM, Fasano C, Sanese P, Grossi V, Buonadonna AL, De Marco K, Lepore Signorile M, Guglielmi AF, Manghisi A, Gigante G, Armentano R, Disciglio V, Simone C. Pantaleo A, et al. Among authors: cariola f. Cancers (Basel). 2023 Oct 19;15(20):5061. doi: 10.3390/cancers15205061. Cancers (Basel). 2023. PMID: 37894428 Free PMC article.
Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes.
Forte G, Cariola F, Buonadonna AL, Guglielmi AF, Manghisi A, De Marco K, Grossi V, Fasano C, Lepore Signorile M, Sanese P, Bagnulo R, Resta N, Disciglio V, Simone C. Forte G, et al. Among authors: cariola f. Genes Dis. 2022 Dec 27;10(4):1187-1189. doi: 10.1016/j.gendis.2022.11.017. eCollection 2023 Jul. Genes Dis. 2022. PMID: 37397536 Free PMC article. No abstract available.
A novel STK11 gene mutation (c.388dupG, p.Glu130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107-170.
Forte G, Cariola F, De Marco K, Manghisi A, Guglielmi FA, Armentano R, Lippolis G, Giorgio P, Simone C, Disciglio V. Forte G, et al. Among authors: cariola f. Genes Dis. 2021 Nov 19;9(2):288-291. doi: 10.1016/j.gendis.2021.11.002. eCollection 2022 Mar. Genes Dis. 2021. PMID: 35224145 Free PMC article. No abstract available.
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3'-end.
Disciglio V, Fasano C, Cariola F, Forte G, Grossi V, Sanese P, Lepore Signorile M, Resta N, Lotesoriere C, Stella A, Lolli I, Simone C. Disciglio V, et al. Among authors: cariola f. J Med Genet. 2020 May;57(5):356-360. doi: 10.1136/jmedgenet-2019-106299. Epub 2019 Oct 7. J Med Genet. 2020. PMID: 31591141 Free PMC article.
31 results