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Page 1
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.
The familial adenomatous polyposis region exhibits many different haplotypes.
Stella A, Resta N, Polizzi A, Montera M, Cariola F, Susca F, Gismondi V, Bertario L, Marchese C, Tenconi R, Tibiletti MG, Izzo P, Gentile M, Prete F, Pannarale O, Di Matteo G, Sala P, Varesco L, Mareni C, Guanti G. Stella A, et al. Among authors: cariola f. Hum Genet. 1998 Jun;102(6):624-8. doi: 10.1007/s004390050752. Hum Genet. 1998. PMID: 9703421
Nine novel APC mutations in Italian FAP patients.
Resta N, Stella A, Susca F, Montera M, Gentile M, Cariola F, Prete F, Tenconi R, Tibiletti MG, Logrieco G, Mattina T, Andriulli G, Caruso ML, Fiorente P, Russo S, Caputi-Jambrenghi O, Mareni C, Guanti G. Resta N, et al. Among authors: cariola f. Hum Mutat. 2001 May;17(5):434-5. doi: 10.1002/humu.1125. Hum Mutat. 2001. PMID: 11317365
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.
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.
Corrigendum to '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' [Gene Dis (9) (2022) 288-291].
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. 2023 Aug 2;11(2):1082-1083. doi: 10.1016/j.gendis.2023.08.001. eCollection 2024 Mar. Genes Dis. 2023. PMID: 37692472 Free PMC article.
35 results