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Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.
Vitetta G, Desiderio L, Baccolini I, Uliana V, Lanzoni G, Ghi T, Pilu G, Ambrosini E, Caggiati P, Barili V, Trotta AC, Liuti MR, Malpezzi E, Pittalis MC, Percesepe A. Vitetta G, et al. Among authors: barili v. Mol Cytogenet. 2024 Apr 8;17(1):8. doi: 10.1186/s13039-024-00675-3. Mol Cytogenet. 2024. PMID: 38589928 Free PMC article.
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
Barili V, Ambrosini E, Bortesi B, Minari R, De Sensi E, Cannizzaro IR, Taiani A, Michiara M, Sikokis A, Boggiani D, Tommasi C, Serra O, Bonatti F, Adorni A, Luberto A, Caggiati P, Martorana D, Uliana V, Percesepe A, Musolino A, Pellegrino B. Barili V, et al. Genes (Basel). 2024 Feb 8;15(2):219. doi: 10.3390/genes15020219. Genes (Basel). 2024. PMID: 38397209 Free PMC article. Review.
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
Tonelli L, Balla C, Farnè M, Margutti A, Maniscalchi ET, De Feo G, Di Domenico A, De Raffele M, Percesepe A, Uliana V, Barili V, Serra W, Sassone B, Virzì S, De Maria E, Parmeggiani G, Assenza GE, Biagini E, Parisi V, Biffi M, Carinci V, Perugini E, Imbrici P, Ferlini A, Bertini M, Selvatici R, Gualandi F. Tonelli L, et al. Among authors: barili v. J Cardiovasc Med (Hagerstown). 2023 Dec 1;24(12):864-870. doi: 10.2459/JCM.0000000000001560. Epub 2023 Oct 30. J Cardiovasc Med (Hagerstown). 2023. PMID: 37942788
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. Among authors: barili v. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
40 results