Fibrillins in Tendon

por Giusti, Betti, Pepe, Guglielmina
Publicado 2016

Rheumatoid Arthritis

por Melchiorre, Daniela, Iagnocco, Anna Maria, Acharya, Suchitra, Pepe, Guglielmina, Borderi, Marco
Publicado 2013

Marfan syndrome: current perspectives

por Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena, Abbate, Rosanna, Gensini, Gian Franco, Nistri, Stefano
Publicado 2016

Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis

por Giusti, Betti, Sticchi, Elena, De Cario, Rosina, Magi, Alberto, Nistri, Stefano, Pepe, Guglielmina
Publicado 2017

A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection

por Giusti, Betti, Nistri, Stefano, Sticchi, Elena, De Cario, Rosina, Abbate, Rosanna, Gensini, Gian Franco, Pepe, Guglielmina
Publicado 2016

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

por Sticchi, Elena, De Cario, Rosina, Magi, Alberto, Giglio, Sabrina, Provenzano, Aldesia, Nistri, Stefano, Pepe, Guglielmina, Giusti, Betti
Publicado 2018

Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach

por Frasconi, Paolo, Baracchi, Daniele, Giusti, Betti, Kura, Ada, Spaziani, Gaia, Cherubini, Antonella, Favilli, Silvia, Di Lenarda, Andrea, Pepe, Guglielmina, Nistri, Stefano
Publicado 2021

Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

por Pepe, Guglielmina, Nistri, Stefano, Giusti, Betti, Sticchi, Elena, Attanasio, Monica, Porciani, Cristina, Abbate, Rosanna, Bonow, Robert O, Yacoub, Magdi, Gensini, Gian Franco
Publicado 2014

Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?

por De Cario, Rosina, Kura, Ada, Suraci, Samuele, Magi, Alberto, Volta, Andrea, Marcucci, Rossella, Gori, Anna Maria, Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena
Publicado 2020

When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score

por Pepe, Guglielmina, Giusti, Betti, Colonna, Stefania, Fugazzaro, Maria Pia, Sticchi, Elena, De Cario, Rosina, Kura, Ada, Pratelli, Elisa, Melchiorre, Daniela, Nistri, Stefano
Publicado 2020

Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2

por Nistri, Stefano, De Cario, Rosina, Sticchi, Elena, Spaziani, Gaia, Della Monica, Matteo, Giglio, Sabrina, Favilli, Silvia, Giusti, Betti, Stefano, Pierluigi, Pepe, Guglielmina
Publicado 2021

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

por De Cario, Rosina, Giannini, Marco, Cassioli, Giulia, Kura, Ada, Gori, Anna Maria, Marcucci, Rossella, Nistri, Stefano, Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena
Publicado 2022

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

por van de Laar, Ingrid M. B. H., Arbustini, Eloisa, Loeys, Bart, Björck, Erik, Murphy, Lise, Groenink, Maarten, Kempers, Marlies, Timmermans, Janneke, Roos-Hesselink, Jolien, Benke, Kalman, Pepe, Guglielmina, Mulder, Barbara, Szabolcs, Zoltan, Teixidó-Turà, Gisela, Robert, Leema, Emmanuel, Yaso, Evangelista, Arturo, Pini, Alessandro, von Kodolitsch, Yskert, Jondeau, Guillaume, De Backer, Julie
Publicado 2019

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

por Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor
Publicado 2007