Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Anwar Baban"'
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:
Gabrielle Norrish, Gali Kolt, Elena Cervi, Ella Field, Kathleen Dady, Lidia Ziółkowska, Iacopo Olivotto, Silvia Favilli, Silvia Passantino, Giuseppe Limongelli, Martina Caiazza, Marta Rubino, Anwar Baban, Fabrizio Drago, Karen Mcleod, Maria Ilina, Ruth McGowan, Graham Stuart, Vinay Bhole, Orhan Uzun, Amos Wong, Laz Lazarou, Elspeth Brown, Piers E.F. Daubeney, Amrit Lota, Grazia Delle Donne, Katie Linter, Sujeev Mathur, Tara Bharucha, Satish Adwani, Jon Searle, Anca Popoiu, Caroline B. Jones, Zdenka Reinhardt, Juan Pablo Kaski
Publikováno v:
ESC Heart Failure, Vol 8, Iss 6, Pp 5057-5067 (2021)
Abstract Aims Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype,
Externí odkaz:
https://doaj.org/article/606e02324a3e411484c1c9f074115236
Autor:
Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Marco Tartaglia
Publikováno v:
Genes, Vol 13, Iss 11, p 2163 (2022)
Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with a specific genome-wide DNA methylation (DNAm) pattern. Sotos syndrome is characterized by phenotypic overlap with other overgrowth syndromes, and a de
Externí odkaz:
https://doaj.org/article/67cdb4cb8d1440ceb0781962c37acde1
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:
Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability. Case presentation We report the case of an 8-year-old male w
Externí odkaz:
https://doaj.org/article/809750225703489db3e78a66fda1fb79
Autor:
Giulio Calcagni, Camilla Calvieri, Anwar Baban, Francesco Bianco, Rosaria Barracano, Massimo Caputo, Andrea Madrigali, Stefani Silva Kikina, Marco Alfonso Perrone, Maria Cristina Digilio, Marco Pozzi, Aurelio Secinaro, Berardo Sarubbi, Lorenzo Galletti, Maria Giulia Gagliardi, Andrea de Zorzi, Fabrizio Drago, Benedetta Leonardi
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 3, p 850 (2022)
Background: The impact of genetic syndromes on cardiac magnetic resonance imaging (cMRI) parameters, particularly on right and/or left ventricular dysfunction, associated with clinical parameters following the repair of Tetralogy of Fallot (rToF) is
Externí odkaz:
https://doaj.org/article/392c69e1575748d39f23fb587169bbfd
Autor:
Massimo Stefano Silvetti, Ilaria Tamburri, Marta Campisi, Fabio Anselmo Saputo, Ilaria Cazzoli, Nicoletta Cantarutti, Marianna Cicenia, Rachele Adorisio, Anwar Baban, Lucilla Ravà, Fabrizio Drago
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 9, Iss 2, p 33 (2022)
Background: Pediatric patients with cardiomyopathies are at risk of malignant arrhythmias and sudden cardiac death (SCD). An ICD may prevent SCD. The aim of this study was to evaluate ICD implantation outcomes, and to compare transvenous and subcutan
Externí odkaz:
https://doaj.org/article/2ce374e201984cb2a596152e30ce4c61
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