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Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M, Tiberi L, Vergani D, Kurtas NE, Guarducci S, Bargiacchi S, Forzano G, Artuso R, Palazzo V, Kura A, Giordano F, di Feo D, Mortilla M, De Filippi C, Mattei G, Garavelli L, Giusti B, Genitori L, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: giusti b. Hum Genet. 2021 Apr;140(4):625-647. doi: 10.1007/s00439-020-02231-6. Epub 2020 Dec 18. Hum Genet. 2021. PMID: 33337535 Free PMC article.
When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score.
Pepe G, Giusti B, Colonna S, Fugazzaro MP, Sticchi E, De Cario R, Kura A, Pratelli E, Melchiorre D, Nistri S. Pepe G, et al. Among authors: giusti b. Intern Emerg Med. 2021 Apr;16(3):609-615. doi: 10.1007/s11739-020-02458-1. Epub 2020 Sep 19. Intern Emerg Med. 2021. PMID: 32949381 Free PMC article.
Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach.
Frasconi P, Baracchi D, Giusti B, Kura A, Spaziani G, Cherubini A, Favilli S, Di Lenarda A, Pepe G, Nistri S. Frasconi P, et al. Among authors: giusti b. Diagnostics (Basel). 2021 Feb 2;11(2):220. doi: 10.3390/diagnostics11020220. Diagnostics (Basel). 2021. PMID: 33540834 Free PMC article.
Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection.
De Cario R, Giannini M, Cassioli G, Kura A, Gori AM, Marcucci R, Nistri S, Pepe G, Giusti B, Sticchi E. De Cario R, et al. Among authors: giusti b. Diagnostics (Basel). 2022 Jul 22;12(8):1785. doi: 10.3390/diagnostics12081785. Diagnostics (Basel). 2022. PMID: 35892496 Free PMC article. Review.
Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease.
Rubattu S, Di Castro S, Schulz H, Geurts AM, Cotugno M, Bianchi F, Maatz H, Hummel O, Falak S, Stanzione R, Marchitti S, Scarpino S, Giusti B, Kura A, Gensini GF, Peyvandi F, Mannucci PM, Rasura M, Sciarretta S, Dwinell MR, Hubner N, Volpe M. Rubattu S, et al. Among authors: giusti b. J Am Heart Assoc. 2016 Feb 17;5(2):e002701. doi: 10.1161/JAHA.115.002701. J Am Heart Assoc. 2016. PMID: 26888427 Free PMC article.
231 results