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Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.
Sculco M, La Vecchia M, Aspesi A, Clavenna MG, Salvo M, Borgonovi G, Pittaro A, Witel G, Napoli F, Listì A, Grosso F, Libener R, Maconi A, Rena O, Boldorini R, Giachino D, Bironzo P, Maffè A, Alì G, Elefanti L, Menin C, Righi L, Tampieri C, Scagliotti GV, Dianzani C, Ferrante D, Migliore E, Magnani C, Mirabelli D, Matullo G, Dianzani I. Sculco M, et al. Among authors: giachino d. Diagnostics (Basel). 2022 Jul 13;12(7):1710. doi: 10.3390/diagnostics12071710. Diagnostics (Basel). 2022. PMID: 35885614 Free PMC article.
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
Sculco M, La Vecchia M, Aspesi A, Pinton G, Clavenna MG, Casalone E, Allione A, Grosso F, Libener R, Muzio A, Rena O, Baietto G, Parini S, Boldorini R, Giachino D, Papotti M, Scagliotti GV, Migliore E, Mirabelli D, Moro L, Magnani C, Ferrante D, Matullo G, Dianzani I. Sculco M, et al. Among authors: giachino d. Eur J Cancer. 2022 Mar;163:44-54. doi: 10.1016/j.ejca.2021.12.023. Epub 2022 Jan 13. Eur J Cancer. 2022. PMID: 35032816 Free article.
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F. Marcocci E, et al. Among authors: giachino d. Nephrol Dial Transplant. 2009 May;24(5):1464-71. doi: 10.1093/ndt/gfn681. Epub 2009 Jan 7. Nephrol Dial Transplant. 2009. PMID: 19129241 Free article.
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Di Gregorio E, et al. Among authors: giachino df. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
76 results