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134 results

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Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.
Hendricks LAJ, Verbeek KCJ, Schuurs-Hoeijmakers JHM, de Putter R, Brems H, Van Daele SH, Anastasiadou VC, Foretová L, Benusiglio PR, Gerasimenko A, Colas C, Villy MC, Houdayer C, Branchaud M, Hüneburg R, Aretz S, Jahn A, Steinke-Lange V, Innella G, Turchetti D, Barili V, Genuardi M, Panfili A, Baldassarri M, Irmejs A, de Jong MM, Links TP, Leter EM, Bosch DGM, Donze SH, van der Post RS, Mensenkamp AR, Westdorp H, Høberg-Vetti H, Tveit Haavind M, Jørgensen K, Mæhle L, Briskemyr S, Garcia JD, Blatnik A, Balmaña J, Torres M, Brunet J, Lleuger-Pujol R, Tham E, Tischkowitz M, Evans DG, Hyder Z, Hoogerbrugge N, Vos JR. Hendricks LAJ, et al. Among authors: turchetti d. BJC Rep. 2025 Jun 4;3(1):42. doi: 10.1038/s44276-025-00157-y. BJC Rep. 2025. PMID: 40468016 Free PMC article.
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.
Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M. Magini P, et al. Among authors: turchetti d. Mol Cytogenet. 2015 Aug 1;8:58. doi: 10.1186/s13039-015-0164-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26236399 Free PMC article.
Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.
Sagna T, Bonora E, Ouedraogo MNL, Fusco D, Zoure AA, Bisseye C, Djigma F, Kafando JG, Zongo N, Douamba Z, Obiri-Yeboah D, Turchetti D, Pietra V, Lompo OM, Ouedraogo C, Seri M, Simpore J. Sagna T, et al. Among authors: turchetti d. Biomol Concepts. 2019 Jun 11;10(1):120-127. doi: 10.1515/bmc-2019-0015. Biomol Concepts. 2019. PMID: 31203256
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.
Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies.
Mammone G, Borghesi S, Borsellino N, Caliò A, Ceccarelli R, Cimadamore A, Conti GN, Cortesi L, D'Angelillo RM, Facchini G, Incorvaia L, Lapini A, Mearini L, Pappagallo G, Prontera P, Turchetti D, Sirgiovanni G, Bracarda S; Italian Society of Uro-Oncology (SIUrO). Mammone G, et al. Among authors: d angelillo rm, turchetti d. BMC Cancer. 2025 Jan 23;25(1):127. doi: 10.1186/s12885-025-13521-5. BMC Cancer. 2025. PMID: 39844131 Free PMC article.
134 results