Zobrazeno 1 - 10
of 127
pro vyhledávání: '"Guglielmina, Pepe"'
Autor:
Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel, Arturo Evangelista, Alessandro Pini, Yskert von Kodolitsch, Guillaume Jondeau, Julie De Backer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-
Externí odkaz:
https://doaj.org/article/28a3f413457f4d019b78d4411ab50cb3
Autor:
Rosina De Cario, Marco Giannini, Giulia Cassioli, Ada Kura, Anna Maria Gori, Rossella Marcucci, Stefano Nistri, Guglielmina Pepe, Betti Giusti, Elena Sticchi
Publikováno v:
Diagnostics, Vol 12, Iss 8, p 1785 (2022)
The main challenge in diagnosing and managing thoracic aortic aneurysm and dissection (TAA/D) is represented by the early detection of a disease that is both deadly and “elusive”, as it generally grows asymptomatically prior to rupture, leading t
Externí odkaz:
https://doaj.org/article/47e92e7eb99b4c6f9b150ab0e9404c6e
Autor:
Rosina De Cario, Ada Kura, Samuele Suraci, Alberto Magi, Andrea Volta, Rossella Marcucci, Anna Maria Gori, Guglielmina Pepe, Betti Giusti, Elena Sticchi
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Next-generation sequencing (NGS)’s crucial role in supporting genetic diagnosis and personalized medicine leads to the definition of Guidelines for Diagnostic NGS by the European Society of Human Genetics. Factors of different nature producing fals
Externí odkaz:
https://doaj.org/article/3641e206503e45978a107d9394dfd834
Autor:
Paolo Frasconi, Daniele Baracchi, Betti Giusti, Ada Kura, Gaia Spaziani, Antonella Cherubini, Silvia Favilli, Andrea Di Lenarda, Guglielmina Pepe, Stefano Nistri
Publikováno v:
Diagnostics, Vol 11, Iss 2, p 220 (2021)
Background: To develop a tool for assessing normalcy of the thoracic aorta (TA) by echocardiography, based on either a linear regression model (Z-score), or a machine learning technique, namely one-class support vector machine (OC-SVM) (Q-score). Met
Externí odkaz:
https://doaj.org/article/bc4eea35f04a4effb4343d48fa9eadf3
Autor:
Gioacchino Scarano, Francesco Natale, Giuseppe Palmiero, Guglielmina Pepe, Antonello Credendino, Adelaide Fusco, Giuseppe Limongelli, Alessandro Della Corte, Martina Caiazza, Giovanni Signore, Alfredo Mauriello, Chiara Granato, Flavia Chiosi, Michele Lioncino, Maria Giovanna Russo, Annapaola Cirillo, Fiorella Fratta, Emanuele Monda, Stefano Nistri
Publikováno v:
Heart Failure Clinics. 18:165-175
The inherited connective tissue disorders (Marfan syndrome, Loeys-Dietz syndrome [LDS], and Ehlers-Danlos syndrome [EDS]) involve connective tissue of various organ systems. These pathologies share many common features, nonetheless compared to Marfan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab03e583ff1d1a72f64f5f08b9dc2cb
https://doi.org/10.1016/j.hfc.2021.07.007
https://doi.org/10.1016/j.hfc.2021.07.007
Autor:
Julie de Backer, Maryanne Caruana, Marieke Baars, Evi Bashiardes, Kalman Benke, Erik Bjorck, Andrei Codreanu, Elena de Moya Rubio, Julia Dumfarth, Arturo Evangelista, Maarten Groenink, Klaus Kallenbach, Marlies Kempers, Anna Keravnu, Bart Loeys, Laura Muino Mosquera, Edit Nagi, Stefano Nistri, Guglielmina Pepe, Jolien Roos Hesselink, Zoltan Szabolcs, Gisela Teixido, Janneke Timmermans, Ingrid Van de Laar, Roland Van Kimmenade, Aline Verstraeten, Yskert Von Kodolitsch, Guillaume Jondeau
Publikováno v:
Cardiovascular Research. 118
Background Timely diagnosis of patients with Heritable Thoracic Aortic Diseases (HTAD) is essential to avoid (often fatal) aortic dissection. Experts of the HTAD rare disease working group of the European Reference Network of Rare Vascular diseases (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19c686331defb38d30262799cf3880e7
https://doi.org/10.1093/cvr/cvac157.110
https://doi.org/10.1093/cvr/cvac157.110
Publikováno v:
Frontiers in Physiology, Vol 8 (2017)
Bicuspid aortic valve (BAV) is a common (0.5–2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressiv
Externí odkaz:
https://doaj.org/article/2183f28161454a668efde7e2854b01ae
Autor:
Rosina De Cario, Elena Sticchi, Betti Giusti, Rosanna Abbate, Gian Franco Gensini, Stefano Nistri, Guglielmina Pepe
Publikováno v:
International Cardiovascular Forum Journal, Vol 1, Iss 4, Pp 167-174 (2014)
Bicuspid aortic valve (BAV) is a common heterogeneous disorder whose natural history is determined by hemodynamic valvular impairment and/or increased prevalence of aortic abnormalities ranging from dilatation to aneurysm and dissection. BAV-related
Externí odkaz:
https://doaj.org/article/2caa7c0647b142e69f09235e6de8af11
Autor:
Betti Giusti, Guglielmina Pepe
Publikováno v:
Frontiers in Aging Neuroscience, Vol 8 (2016)
Tendons among connective tissue, mainly collagen, contain also elastic fibres made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon. Only in the last years, studies on
Externí odkaz:
https://doaj.org/article/162c0652ed0e41b8a41caeef487c241b
Autor:
Stefania Colonna, Stefano Nistri, Daniela Melchiorre, Elisa Pratelli, Ada Kura, Guglielmina Pepe, Rosina De Cario, Maria Pia Fugazzaro, Betti Giusti, Elena Sticchi
Publikováno v:
Internal and Emergency Medicine
Size threshold for aortic surgery in bicuspid aortic valve (BAV) is debated. Connective tissue disorders (CTDs) are claimed as a clinical turning point, suggesting early surgery in BAV patients with CTD. Thus, we aimed at developing a score to detect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1823f2750c4a100ee027e73c35628724
http://europepmc.org/articles/PMC8049921
http://europepmc.org/articles/PMC8049921