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Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion.
Muscarella LA, Turchetti D, Fontana A, Baorda F, Palumbo O, la Torre A, de Martino D, Franco R, Losito NS, Repaci A, Pagotto U, Cinque L, Copetti M, Chiofalo MG, Pezzullo L, Graziano P, Scillitani A, Guarnieri V. Muscarella LA, et al. Among authors: turchetti d. Oncotarget. 2018 Apr 17;9(29):20721-20733. doi: 10.18632/oncotarget.25067. eCollection 2018 Apr 17. Oncotarget. 2018. PMID: 29755684 Free PMC article.
Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.
Innella G, Rossi C, Romagnoli M, Repaci A, Bianchi D, Cantarini ME, Martorana D, Godino L, Pession A, Percesepe A, Pagotto U, Turchetti D. Innella G, et al. Among authors: turchetti d. Cancers (Basel). 2020 Nov 5;12(11):3268. doi: 10.3390/cancers12113268. Cancers (Basel). 2020. PMID: 33167350 Free PMC article.
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome.
De Luise M, Iommarini L, Marchio L, Tedesco G, Coadă CA, Repaci A, Turchetti D, Tardio ML, Salfi N, Pagotto U, Kurelac I, Porcelli AM, Gasparre G. De Luise M, et al. Among authors: turchetti d. Cells. 2021 Oct 28;10(11):2920. doi: 10.3390/cells10112920. Cells. 2021. PMID: 34831144 Free PMC article.
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Canaff L, Guarnieri V, Kim Y, Wong BYL, Nolin-Lapalme A, Cole DEC, Minisola S, Eller-Vainicher C, Cetani F, Repaci A, Turchetti D, Corbetta S, Scillitani A, Goltzman D. Canaff L, et al. Among authors: turchetti d. Eur J Endocrinol. 2022 Feb 4;186(3):351-366. doi: 10.1530/EJE-21-0433. Eur J Endocrinol. 2022. PMID: 35038313 Free PMC article.
RASAL1 and ROS1 Gene Variants in Hereditary Breast Cancer.
Isidori F, Bozzarelli I, Ferrari S, Godino L, Innella G, Turchetti D, Bonora E. Isidori F, et al. Among authors: turchetti d. Cancers (Basel). 2020 Sep 7;12(9):2539. doi: 10.3390/cancers12092539. Cancers (Basel). 2020. PMID: 32906649 Free PMC article.
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.
Ciavarella M, Miccoli S, Prossomariti A, Pippucci T, Bonora E, Buscherini F, Palombo F, Zuntini R, Balbi T, Ceccarelli C, Bazzoli F, Ricciardiello L, Turchetti D, Piazzi G. Ciavarella M, et al. Among authors: turchetti d. Eur J Hum Genet. 2018 Mar;26(3):387-395. doi: 10.1038/s41431-017-0086-y. Epub 2018 Jan 24. Eur J Hum Genet. 2018. PMID: 29367705 Free PMC article.
116 results