Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Giada Tortora"'
Autor:
Luigi Lovato, MD, Mariano Cefarelli, MD, PhD, Luca Di Marco, MD, PhD, Daniel Arcioni, MD, Giada Tortora, MD, PhD, Ada Dormi, Mth D Biostatistical, Nicolò Schicchi, MD, Elisabetta Mariucci, MD, PhD, Marco Di Eusanio, MD, PhD, Davide Pacini, MD, PhD, Rossella Fattori, MD, PhD
Publikováno v:
JTCVS Open, Vol 19, Iss , Pp 223-240 (2024)
Objective: In heritable aortic diseases, different vascular involvement may occur with potential variable implications in aortic dilation/dissection risk. This study aimed to analyze the aortic anatomy of individuals with Marfan syndrome and Loeys-Di
Externí odkaz:
https://doaj.org/article/4c9ea8fc0403403d9910da6d513fc305
Autor:
Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, IMGSAC, Elena Maestrini, Marco Seri, Giovanni Romeo
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 6, Pp 795-809 (2014)
Abstract Intellectual disability (ID) and autism spectrum disorders (ASDs) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin in two siblings wi
Externí odkaz:
https://doaj.org/article/719c40e8807c493794f7627dceec2567
Autor:
Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, Francesca Malvestiti, Nicoletta Villa, Elena Sala, Francesca Crosti, Valentina Parisi, Anna Maria Nardone, Gianluca Di Giacomo, Antonella Pettinari, Giada Tortora, Annamaria Montaldi, Annapaola Calò, Donatella Saccilotto, Sara Zanchetti, Paola Celli, Silvana Guerneri, Rosamaria Silipigni, Laura Cardarelli, Elisabetta Lippi, Simona Cavani, Michela Malacarne, Rita Genesio, Nicola Beltrami, Maria Carla Pittalis, Laura Desiderio, Mattia Gentile, Romina Ficarella, Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Lorena Miele, Cecilia Corti, Sara Ghezzo, Veronica Bertini, Francesca Cambi, Angelo Valetto, Barbara Facchinetti, Laura Bernardini, Anna Capalbo, Federica Balducci, Elisabetta Pelo, Barbara Minuti, Chiara Pescucci, Costanza Giuliani, Alessandra Renieri, Ilaria Longo, Rossella Tita, Giuseppe Castello, Rosario Casalone, Rossana Righi, Barbara Raso, Alessandro Civolani, Maria Cristina Muzi, Manuela di Natale, Luigia Varriale, Daniela Gasperini, Maria Cristina Nuzzi, Angelo Cellamare, Paola Casieri, Rosa Busuito, Caterina Ceccarini, Carla Cesarano, Orsola Privitera, Daniela Melani, Cristina Menozzi, Cristina Falcinelli, Olga Calabrese, Paola Battaglia, Antonella Tanzariello, Tamara Stampalija, Carmela Ardisia, Paolo Gasparini, Peter Benn, Antonio Novelli
Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods: Prenatal diagnostic test results obtained by Italian laboratories betwee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deddef97ee50604835da23b5f9aa9edb
https://hdl.handle.net/11368/3035240
https://hdl.handle.net/11368/3035240
Autor:
Laura Papi, Enrico Grosso, Fabio Sirchia, Giuseppe Damante, Chiara Di Marco, Marco Tartaglia, Paola Daniele, Teresa Mattina, Francesca Clementina Radio, Sara Corno, Valentina Pinna, Ilaria Donati, Alexandra Scott, Annabella Marozza, Daniela Mangiameli, Elena Andreucci, Marie Ange Delrue, Tommaso Mazza, Antonella Giancotti, Giada Tortora, Antonio Pizzuti, Maria Romagnoli, Gioia Mastromoro, Paolo Versacci, Valentina D'Ambrosio, Francesca Pantaleoni, Valeria Giorgia Naretto, Niccolò Di Giosaffatte, Andrea Zonta, Alessandro De Luca, Anne-Marie Laberge
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(6)
Purpose Recent studies have identified suggestive prenatal features of RASopathies (e.g., increased nuchal translucency [NT], cystic hygroma [CH], hydrops, effusions, congenital heart diseases [CHD], polyhydramnios, renal anomalies). Our objective is
Autor:
Sandhya Parkash, Julie Désir, Gretchen MacCarrick, Birgitte Rode Diness, Jennifer Hague, Paul Coucke, George McGillivray, Marja W. Wessels, Giada Tortora, Takayuki Morisaki, Mieke M. van Haelst, Christopher P. Bennett, David Liang, Lut Van Laer, Ingrid M.B.H. van de Laar, Marlies Kempers, Y. Detisch, Geert Vandeweyer, Jolien W. Roos-Hesselink, Andrea L. Rideout, Isabelle Maystadt, Josephina A.N. Meester, Elisa Rahikkala, Denise van der Linde, Lotte Risom, Dorien Schepers, Bart Loeys, Elie El-Khoury, Judith M.A. Verhagen, Ingrid Scurr, Kees P.J. Braun, Hiroko Morisaki, Klaske D. Lichtenbelt, Sarju G. Mehta, Julie Richer, Gabrielle Horne, Yvonne Hilhorst-Hofstee, Mark E. Lindsay, Maaike Alaerts, Hal Dietz, Aline Verstraeten, Annette F. Baas
Publikováno v:
Human Mutation
Human mutation, 39 (5
Human Mutation, 39, 621-634
Human Mutation, 39(5), 621-634
Human Mutation, 39, 5, pp. 621-634
Human mutation, 39(5), 621-634. Wiley-Liss Inc.
Human Mutation, 39(5), 621-634. Wiley-Liss Inc.
Schepers, D, Tortora, G, Morisaki, H, MacCarrick, G, Lindsay, M, Liang, D, Mehta, S G, Hague, J, Verhagen, J, van de Laar, I, Wessels, M, Detisch, Y, van Haelst, M, Baas, A, Lichtenbelt, K, Braun, K, van der Linde, D, Roos-Hesselink, J, McGillivray, G, Meester, J, Maystadt, I, Coucke, P, El-Khoury, E, Parkash, S, Diness, B, Risom, L, Scurr, I, Hilhorst-Hofstee, Y, Morisaki, T, Richer, J, Désir, J, Kempers, M, Rideout, A L, Horne, G, Bennett, C, Rahikkala, E, Vandeweyer, G, Alaerts, M, Verstraeten, A, Dietz, H, Van Laer, L & Loeys, B 2018, ' A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3 ', Human Mutation, vol. 39, no. 5, pp. 621-634 . https://doi.org/10.1002/humu.23407
Human mutation
Human mutation, 39 (5
Human Mutation, 39, 621-634
Human Mutation, 39(5), 621-634
Human Mutation, 39, 5, pp. 621-634
Human mutation, 39(5), 621-634. Wiley-Liss Inc.
Human Mutation, 39(5), 621-634. Wiley-Liss Inc.
Schepers, D, Tortora, G, Morisaki, H, MacCarrick, G, Lindsay, M, Liang, D, Mehta, S G, Hague, J, Verhagen, J, van de Laar, I, Wessels, M, Detisch, Y, van Haelst, M, Baas, A, Lichtenbelt, K, Braun, K, van der Linde, D, Roos-Hesselink, J, McGillivray, G, Meester, J, Maystadt, I, Coucke, P, El-Khoury, E, Parkash, S, Diness, B, Risom, L, Scurr, I, Hilhorst-Hofstee, Y, Morisaki, T, Richer, J, Désir, J, Kempers, M, Rideout, A L, Horne, G, Bennett, C, Rahikkala, E, Vandeweyer, G, Alaerts, M, Verstraeten, A, Dietz, H, Van Laer, L & Loeys, B 2018, ' A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3 ', Human Mutation, vol. 39, no. 5, pp. 621-634 . https://doi.org/10.1002/humu.23407
Human mutation
The Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cl
Autor:
Luca Di Marco, Jacopo Alfonsi, Roberto Di Bartolomeo, Davide Pacini, Paolo Berretta, Andrea Barbieri, Marco Seri, Federica Isidori, Giada Tortora, Ornella Leone, Cesare Rossi, Anita Wischmeijer, Caterina Marconi
Objectives Mutations in ACTA2 have been reported as a cause of familiar thoracic aortic aneurysm (TAA) with associated bicuspid aortic valve (BAV) in some individuals. Our aim is to investigate the role of ACTA2 mutations in BAV associated with TAA i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c76133e9dac1c498ff49dce8d4b08dd8
http://hdl.handle.net/11585/618744
http://hdl.handle.net/11585/618744
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of genodermatoses characterized by disorders of cornification. ARCI11 (MIM #602400) includes two syndromes caused by mutations in the ST14 (suppressi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90da9a0475fa09b4f200fc8f6e32be2b
http://hdl.handle.net/11585/549027
http://hdl.handle.net/11585/549027
Autor:
Nils Peeters, Roberto Di Bartolomeo, Livia Garavelli, Giada Tortora, Davide Pacini, Marco Ritelli, Lut Van Laer, Luigi Lovato, Marina Colombi, Erik Fransen, Guy Van Camp, Nikhita Ajit Bolar, Marco Bonvicini, Elisabetta Mariucci, Simone Turci, Marco Seri, Anita Wischmeijer, Stefano Brusori, Gaetano Gargiulo, Bart Loeys
Publikováno v:
American Journal of Medical Genetics. Part A, 161A, 5, pp. 1028-35
American Journal of Medical Genetics. Part A, 161A, 1028-35
American journal of medical genetics : part A
American Journal of Medical Genetics. Part A, 161A, 1028-35
American journal of medical genetics : part A
Recently, mutations in the SMAD3 gene were found to cause a new autosomal dominant aneurysm condition similar to Loeys-Dietz syndrome (LDS), mostly with osteoarthritis, called aneurysms-osteoarthritis syndrome (AOS). Our 3-year-old propositus underwe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21cf57c60bbfa474237aa867d33ba1e0
http://hdl.handle.net/11379/197702
http://hdl.handle.net/11379/197702