Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Giovanni Parlapiano"'
Autor:
Irene Picciolli, Angelo Ratti, Berardo Rinaldi, Anwar Baban, Maria Iascone, Gaia Francescato, Alessia Cappelleri, Monia Magliozzi, Antonio Novelli, Giovanni Parlapiano, Anna Maria Colli, Nicola Persico, Stefano Carugo, Fabio Mosca, Maria Francesca Bedeschi
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-8 (2024)
Abstract Background Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of diseases of the myocardium. With the rapid evolution in laboratory investigations, genetic background is increasingly determined including many genes with var
Externí odkaz:
https://doaj.org/article/e078afc74be34a5996afaeb4f2b7bb6a
Autor:
Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Michela Armando, Alessio Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, Antonino Romanzo, Adelaide Fusco, Martina Caiazza, Gianluigi Perri, Lorenzo Galletti, Maria Cristina Digilio, Paola Sabrina Buonuomo, Andrea Bartuli, Antonio Novelli, Massimiliano Raponi, Giuseppe Limongelli
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 11, Iss 4, p 114 (2024)
Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye
Externí odkaz:
https://doaj.org/article/8b18e6d91e9e4dc8a9270ee3bc6c4306
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:
Anwar Baban, Marianna Cicenia, Monia Magliozzi, Giovanni Parlapiano, Marco Cirillo, Giulia Pascolini, Fabiana Fattori, Maria Gnazzo, Pasqualina Bruno, Lorenzo De Luca, Luca Di Chiara, Paola Francalanci, Bjarne Udd, Aurelio Secinaro, Antonio Amodeo, Enrico Silvio Bertini, Marco Savarese, Fabrizio Drago, Antonio Novelli
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
BackgroundMonoallelic and biallelic TTN truncating variants (TTNtv) may be responsible for a wide spectrum of musculoskeletal and cardiac disorders with different age at onset. Although the prevalence of heterozygous TTNtv is relatively high in the g
Externí odkaz:
https://doaj.org/article/35e0517acfa14006afaeeb4b26218875
Autor:
Anwar Baban, Viola Alesi, Monia Magliozzi, Giovanni Parlapiano, Silvia Genovese, Marianna Cicenia, Sara Loddo, Valentina Lodato, Luca Di Chiara, Fabiana Fattori, Adele D’Amico, Paola Francalanci, Antonio Amodeo, Antonio Novelli, Fabrizio Drago
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 9, Iss 10, p 332 (2022)
Filamin C is a protein specifically expressed in myocytes and cardiomyocytes and is involved in several biological functions, including sarcomere contractile activity, signaling, cellular adhesion, and repair. FLNC variants are associated with differ
Externí odkaz:
https://doaj.org/article/ef7faa1979664ab1b7f888d2edb197ac
Autor:
Valentina Lodato, Giovanni Parlapiano, Federica Calì, Massimo Stefano Silvetti, Rachele Adorisio, Michela Armando, May El Hachem, Antonino Romanzo, Carlo Dionisi-Vici, Maria Cristina Digilio, Antonio Novelli, Fabrizio Drago, Massimiliano Raponi, Anwar Baban
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 9, Iss 2, p 47 (2022)
Cardiomyopathy (CMP) is a rare disease in the pediatric population, with a high risk of morbidity and mortality. The genetic etiology of CMPs in children is extremely heterogenous. These two factors play a major role in the difficulties of establishi
Externí odkaz:
https://doaj.org/article/1938c87682ec40158430281cf5e0d2cb
Autor:
Valentina Lodato, Valeria Orlando, Viola Alesi, Silvia Di Tommaso, Mario Bengala, Giovanni Parlapiano, Elisa Agnolucci, Marianna Cicenia, Federica Calì, Maria Cristina Digilio, Fabrizio Drago, Antonio Novelli, Anwar Baban
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 8, Iss 11, p 159 (2021)
Background: Monosomy 1p36 syndrome is now considered the most common terminal deletion syndrome, with an estimated incidence of 1 in 5000. Cardiac involvement is well described in the literature mainly in terms of congenital heart defects (CHDs) and
Externí odkaz:
https://doaj.org/article/e66cb9230e3c4788851e8444807e9dd6
Autor:
Anwar Baban, Valentina Lodato, Giovanni Parlapiano, Corrado di Mambro, Rachele Adorisio, Enrico Silvio Bertini, Carlo Dionisi-Vici, Fabrizio Drago, Diego Martinelli
Publikováno v:
Biomolecules, Vol 11, Iss 11, p 1578 (2021)
Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic, with frequent cardiac involvement. In fact, childhood onset forms can predispose a person to
Externí odkaz:
https://doaj.org/article/987ea053af7342c4b76cb0fd5785834d
Publikováno v:
Heart Failure Clinics. 18:139-153
The genetic background of congenital heart diseases (CHDs) is extremely complex, heterogenous, and still majorly to be determined. CHDs can be sporadic or familial. In this article we discuss in detail the phenotypic spectrum of selected genes includ
Autor:
Viola Alesi, Silvia Di Tommaso, Mario Bengala, Maria Cristina Digilio, Valentina Lodato, Federica Calì, Antonio Novelli, Valeria Orlando, Fabrizio Drago, Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Elisa Agnolucci
Publikováno v:
Journal of Cardiovascular Development and Disease
Volume 8
Issue 11
Journal of Cardiovascular Development and Disease, Vol 8, Iss 159, p 159 (2021)
Volume 8
Issue 11
Journal of Cardiovascular Development and Disease, Vol 8, Iss 159, p 159 (2021)
Background: Monosomy 1p36 syndrome is now considered the most common terminal deletion syndrome, with an estimated incidence of 1 in 5000. Cardiac involvement is well described in the literature mainly in terms of congenital heart defects (CHDs) and