Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sara Bardi"'
Autor:
Marco Capezzone, Maja Rossi, Elisabetta Macerola, Silvia Cantara, Francesco Pepe, Eugenia Maria Morabito, Gilda Dalmazio, Sara Bardi, Agostino Ognibene, Massimo Alessandri, Gabriele Materazzi, Luigi De Napoli, Michele Cirianni, Liborio Torregrossa
Publikováno v:
Case Reports in Endocrinology, Vol 2024 (2024)
Papillary thyroid cancer (PTC) is a common endocrine malignancy, and its incidence is reported to be constantly increasing. BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missen
Externí odkaz:
https://doaj.org/article/793009688aaa444f84f561129d0d822e
Publikováno v:
Applied Cryptography and Network Security ISBN: 9783031334870
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7bd4764c9695e3d0ea9dd07d2c173a19
https://doi.org/10.1007/978-3-031-33488-7_12
https://doi.org/10.1007/978-3-031-33488-7_12
Autor:
Francesco Mazzarotto, Franco Cecchi, Elisa Contini, Roddy Walsh, Stuart A. Cook, Raffaele Coppini, Katia Baldini, Ilaria Tanini, Alessia Tomberli, Fausto Barlocco, Iacopo Olivotto, Francesca Girolami, Sara Bardi, Corrado Poggesi, Elisabetta Cerbai, Beatrice Boschi, Francesca Torricelli, Elisabetta Pelo
Publikováno v:
Genetics in Medicine
Purpose Genetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger sequencing of sarcomeric genes. The advent of next-generation sequencing (NGS) has catalyzed routine testing of additional genes of dubious HCM-causing potential.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4345739e487206cf9996989a1894d923
http://hdl.handle.net/11379/545722
http://hdl.handle.net/11379/545722
Autor:
Jil C. Tardiff, Corrado Poggesi, Iacopo Olivotto, Franco Cecchi, Sara Bardi, Sharlene M. Day, Benedetta Tomberli, Francesca Torricelli, Carolyn Y. Ho, Raffaele Coppini, Alessandro Mugelli, Cecilia Ferrantini, Francesca Girolami, Euan A. Ashley
Publikováno v:
Journal of the American College of Cardiology
Background Mild hypertrophy but increased arrhythmic risk characterizes the stereotypic phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament mutations. However, whether such clinical profile is different from more prevalen
Autor:
Carolina Bongini, Gabriele Castelli, Mattia Targetti, Sara Bardi, Luigi Padeletti, Iacopo Olivotto, Franco Cecchi, Francesca Girolami, Cecilia Ferrantini, Corrado Poggesi, Michael J. Ackerman, Raffaele Coppini, A Arretini, Francesca Torricelli
Publikováno v:
The American journal of cardiology. 117(7)
Genes associated with hypertrophic cardiomyopathy (HC) are not uniformly expressed in the atrial myocardium. Whether this may impact susceptibility to atrial fibrillation (AF) is unresolved. To analyze the prevalence and clinical correlates of AF in
Autor:
Alessandra Fornaro, Maria Elena Sana, Cristina Basso, Piera Angelica Merlini, Giuseppina Marseglia, Matteo Benelli, Chiara Pescucci, Maria Iascone, Sara Bardi, Iacopo Olivotto, Benedetta Tomberli, Franco Cecchi, Francesca Girolami, Laura Pezzoli, Francesca Torricelli, Nicola Marziliano
Publikováno v:
Circulation. Cardiovascular genetics. 7(6)
Background— Next-generation sequencing might be particularly advantageous in genetically heterogeneous conditions, such as hypertrophic cardiomyopathy (HCM), in which a considerable proportion of patients remain undiagnosed after Sanger. In this st
Autor:
Francesca, Girolami, Sara, Bardi, Laura, Berti, Franco, Cecchi, Eleonora, Servettini, Benedetta, Tomberli, Francesca, Torricelli, Iacopo, Olivotto
Publikováno v:
Recenti progressi in medicina. 102(12)
More than two decades have elapsed since the discovery that sarcomere gene defects cause familial hypertrophic cardiomyopathy (HCM). Since then, genetic testing in HCM has developed, and become an important tool in clinical practice for diagnosis and
Autor:
Franco Cecchi, Matteo Benelli, Sara Bardi, Iacopo Olivotto, Alessandra Fornaro, Benedetta Tomberli, Francesca Girolami, Francesca Torricelli, Chiara Pescucci
Publikováno v:
European Heart Journal. 34:P2959-P2959
Purpose: Naxos and Carvajal syndrome are rare forms of recessive Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), characterized by ventricle dysplasia/dilated cardiomyopathy and ventricular arrhythmias, associated with palmoplantar keratoderma
Autor:
Claudia Ferrara, Jill C. Tardiff, Beatrice Scellini, Salwa Abdullah, Sara Bardi, Nicoletta Piroddi, Cecilia Ferrantini, Josè Manuel Pioner, Benedetta Tosi, Corrado Poggesi, Coppini Raffaele, Chiara Tesi
Publikováno v:
Biophysical Journal. (2):345a
Introduction: Many of cTnT mutations linked to cardiomyopathies fall the TNT1 domain/N terminal tail region of unresolved high definition structure. This region (∼94-170) of cTnT is critical to Tm binding and contraction regulation. Here, the impac