المؤلفون: 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

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: Thoracic aortic aneurysm, Aortic disease, Dissection, Genetics, Expert testimony, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1186-2; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/28a3f413457f4d019b78d4411ab50cb3

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

المصدر: Diagnostics, Vol 12, Iss 8, p 1785 (2022)

مصطلحات موضوعية: thoracic aortic aneurysm and dissection, syndromic aortopathies, differential diagnosis, genetics, biomarkers, genetic diagnosis, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/12/8/1785; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/47e92e7eb99b4c6f9b150ab0e9404c6e

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

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: high-throughput sequencing, next generation sequencing, Sanger sequencing, sequencing validation, discrepancy, allelic drop-out, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.592588/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/3641e206503e45978a107d9394dfd834

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

المصدر: Genes, Vol 12, Iss 10, p 1462 (2021)

مصطلحات موضوعية: Loeys–Dietz syndrome, Marfan syndrome, hereditary thoracic aortic aneurysms and dissections, LDS type 4, FBN1, TGFB2, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/10/1462; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/0e2c46aa8a4547e6ad235441cac30aa7

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

المصدر: Diagnostics, Vol 11, Iss 2, p 220 (2021)

مصطلحات موضوعية: echocardiography, thoracic aorta, machine learning, normalcy, Z-score, sinuses of Valsalva, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/11/2/220; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/bc4eea35f04a4effb4343d48fa9eadf3

المؤلفون: Betti Giusti, Elena Sticchi, Rosina De Cario, Alberto Magi, Stefano Nistri, Guglielmina Pepe

المصدر: Frontiers in Physiology, Vol 8 (2017)

مصطلحات موضوعية: bicuspid aortic valve, genetics, high-throughput sequencing, next generation sequencing, gene, modifier gene, Physiology, QP1-981

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fphys.2017.00612/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/2183f28161454a668efde7e2854b01ae

المؤلفون: Rosina De Cario, Elena Sticchi, Betti Giusti, Rosanna Abbate, Gian Franco Gensini, Stefano Nistri, Guglielmina Pepe

المصدر: International Cardiovascular Forum Journal, Vol 1, Iss 4, Pp 167-174 (2014)

مصطلحات موضوعية: bicuspid aortic valve, genetics, fibrillin-1, Marfan syndrome, clinical approach, Medicine, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://icfjournal.org/index.php/icfj/article/view/45/37; https://doaj.org/toc/2410-2636; https://doaj.org/toc/2409-3424

URL الوصول: https://doaj.org/article/2caa7c0647b142e69f09235e6de8af11

المؤلفون: Betti Giusti, Guglielmina Pepe

المصدر: Frontiers in Aging Neuroscience, Vol 8 (2016)

مصطلحات موضوعية: Extracellular Matrix, Marfan Syndrome, Tendon, fibrillin, Elastic fibres, Oxytalan fibres, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fnagi.2016.00237/full; https://doaj.org/toc/1663-4365

URL الوصول: https://doaj.org/article/162c0652ed0e41b8a41caeef487c241b

المؤلفون: Daniela Melchiorre, Anna Maria Iagnocco, Suchitra Acharya, Guglielmina Pepe, Marco Borderi

المصدر: Autoimmune Diseases, Vol 2013 (2013)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-0422; https://doaj.org/toc/2090-0430

URL الوصول: https://doaj.org/article/73cf8a5bc67c46f0a8cebda8ce4f9c9d

المؤلفون: 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

المساهمون: Fusco, A., Mauriello, A., Lioncino, M., Palmiero, G., Fratta, F., Granato, C., Cirillo, A., Caiazza, M., Monda, E., Credendino, A., Signore, G., Natale, F., Chiosi, F., Scarano, G., Della Corte, A., Nistri, S., Russo, M. G., Limongelli, G., Pepe, G.

المصدر: Heart Failure Clinics. 18:165-175

مصطلحات موضوعية: Marfan syndrome, Pathology, medicine.medical_specialty, Fibrillinopathie, Connective tissue, Loeys–Dietz syndrome, Cardiomyopathy: mitral valve prolapse, Marfan Syndrome, medicine, Humans, Mitral valve prolapse, Ectopia lentis, Collagenophatie, Aortic dissection, Loeys-Dietz Syndrome, business.industry, Myocardium, TGFbetapathies, General Medicine, medicine.disease, medicine.anatomical_structure, Ehlers–Danlos syndrome, Heart failure, Ehlers-Danlos syndrome, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab03e583ff1d1a72f64f5f08b9dc2cb
https://doi.org/10.1016/j.hfc.2021.07.007