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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F, Girolami F, Boschi B, Barlocco F, Tomberli A, Baldini K, Coppini R, Tanini I, Bardi S, Contini E, Cecchi F, Pelo E, Cook SA, Cerbai E, Poggesi C, Torricelli F, Walsh R, Olivotto I. Mazzarotto F, et al. Among authors: torricelli f. Genet Med. 2019 Feb;21(2):284-292. doi: 10.1038/s41436-018-0046-0. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875424 Free PMC article.
[Clinical relevance of genetic testing in hypertrophic cardiomyopathy].
Girolami F, Bardi S, Berti L, Cecchi F, Servettini E, Tomberli B, Torricelli F, Olivotto I. Girolami F, et al. Among authors: torricelli f. Recenti Prog Med. 2011 Dec;102(12):486-93. doi: 10.1701/998.10862. Recenti Prog Med. 2011. PMID: 22258194 Review. Italian.
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.
Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, Pescucci C, Pezzoli L, Sana ME, Basso C, Marziliano N, Merlini PA, Fornaro A, Cecchi F, Torricelli F, Olivotto I. Girolami F, et al. Among authors: torricelli f. Circ Cardiovasc Genet. 2014 Dec;7(6):741-50. doi: 10.1161/CIRCGENETICS.113.000486. Epub 2014 Aug 30. Circ Cardiovasc Genet. 2014. PMID: 25173926
A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.
Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F. Girolami F, et al. Among authors: torricelli f. J Cardiovasc Med (Hagerstown). 2006 Aug;7(8):601-7. doi: 10.2459/01.JCM.0000237908.26377.d6. J Cardiovasc Med (Hagerstown). 2006. PMID: 16858239
361 results