Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Paolo Versacci"'
Autor:
Carolina Putotto, Flaminia Pugnaloni, Marta Unolt, Giulio Calcagni, Paolo Versacci, Bruno Marino
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-3 (2024)
Abstract To date, the role of NODAL in normal and abnormal L-R asymmetry has been well established. In a recent paper, mutations of this gene have been reported in heterotaxy but also in transposition with D- or L-ventricular loop. The effects of NOD
Externí odkaz:
https://doaj.org/article/3b37653553bd4b8f84b95e5f5b2dd108
Autor:
Maria Novelli, Valeria Mammarella, Francesca Calandriello, Sara Temofonte, Marina Goldoni, Ilaria Macchiarulo, Paolo Versacci, Antonio Pizzuti, Jessica Petrilli, Carlo Di Brina, Barbara Caravale
Publikováno v:
Global Pediatrics, Vol 9, Iss , Pp 100179- (2024)
Objective: UPD(16)mat is a rare genetic condition characterized by intrauterine growth deficiency and multiple congenital malformations. To the best of our knowledge, neurodevelopmental disorders have never been described in association with UPD(16)m
Externí odkaz:
https://doaj.org/article/f47c47c4352a428688d23e8224e897d7
Autor:
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Publikováno v:
Diagnostics, Vol 14, Iss 6, p 594 (2024)
Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic var
Externí odkaz:
https://doaj.org/article/51d311315ab6471296f66aba2d74c3d4
Autor:
Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Enrica De Luca, Bruno Marino, Paolo Versacci
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-13 (2020)
Abstract Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. AVCD is a very heterogeneous malformation that can occur as a phenotypical cardiac aspect in the c
Externí odkaz:
https://doaj.org/article/d9e05e79b72947ef9b849dedbac4e318
Autor:
Giovanni Meliota, Maristella Lombardi, Pierluigi Zaza, Maria Rosaria Tagliente, Paolo Versacci, Gabriele Scalzo, Ugo Vairo
Publikováno v:
Annals of Pediatric Cardiology, Vol 13, Iss 1, Pp 91-94 (2020)
The persistence of the fifth aortic arch (PFAA) in postnatal life is an extremely rare and controversial cardiovascular malformation. PFAA is defined as an extra-pericardial vessel arising from the ascending aorta proximal to the origin of the brachi
Externí odkaz:
https://doaj.org/article/23cc4de0754e4f5e9625c739ef2f1007
Autor:
Flaminia Pugnaloni, Roberta Onesimo, Rita Blandino, Carolina Putotto, Paolo Versacci, Angelica Bibiana Delogu, Chiara Leoni, Valentina Trevisan, Ileana Croci, Federica Calì, Maria Cristina Digilio, Giuseppe Zampino, Bruno Marino, Giulio Calcagni
Publikováno v:
Genes, Vol 14, Iss 1, p 146 (2023)
Chromosome 9p deletion syndrome is a rare autosomal dominant disorder presenting with a broad spectrum of clinical features, including congenital heart defects (CHDs). To date, studies focused on a deep characterization of cardiac phenotype and funct
Externí odkaz:
https://doaj.org/article/6435eeac62c8457e93ad9fb24c014bb6
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Externí odkaz:
https://doaj.org/article/0e938d265f2843d1ace95beba8a38cb8
Autor:
Carolina Putotto, Federica Pulvirenti, Flaminia Pugnaloni, Ina Isufi, Marta Unolt, Silvia Anaclerio, Viviana Caputo, Laura Bernardini, Elisa Messina, Corrado Moretti, Luigi Tarani, Bruno Marino, Paolo Versacci
Publikováno v:
Genes, Vol 13, Iss 12, p 2334 (2022)
Background: Aortic root dilation (ARD) has been described in 22q11.2DS, even without congenital heart disease (CHD). However, the clinical implications and longitudinal course are unclear. In this study, we evaluated aortic root (AR) dimensions in 22
Externí odkaz:
https://doaj.org/article/948d2af863784111b1cfc90af08eda54
Autor:
Carolina Putotto, Flaminia Pugnaloni, Marta Unolt, Stella Maiolo, Matteo Trezzi, Maria Cristina Digilio, Annapaola Cirillo, Giuseppe Limongelli, Bruno Marino, Giulio Calcagni, Paolo Versacci
Publikováno v:
Children, Vol 9, Iss 6, p 772 (2022)
Congenital heart diseases represent one of the hallmarks of 22q11.2 deletion syndrome. In particular, conotruncal heart defects are the most frequent cardiac malformations and are often associated with other specific additional cardiovascular anomali
Externí odkaz:
https://doaj.org/article/9d3a167553ff4b998f66ad49a4ea390d
Autor:
Gianluca Terrin, Maria Di Chiara, Giovanni Boscarino, Paolo Versacci, Violante Di Donato, Antonella Giancotti, Elisabetta Pacelli, Francesca Faccioli, Elisa Onestà, Chiara Corso, Alessandra Ticchiarelli, Mario De Curtis
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Introduction: Echocardiography (ECHO) with color flow Doppler is considered as the gold standard to identify a hemodynamic patent ductus arteriosus (hs-PDA). However, the optimal diagnostic and therapeutic management for newborns with hs-PDA is still
Externí odkaz:
https://doaj.org/article/eff1edbe5dd94de293de4668fc488f52