Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Camilla Savio"'
Autor:
Caterina Micolonghi, Federica Perrone, Marco Fabiani, Silvia Caroselli, Camilla Savio, Antonio Pizzuti, Aldo Germani, Vincenzo Visco, Simona Petrucci, Speranza Rubattu, Maria Piane
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 18, p 9787 (2024)
Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM), represent a group of heart disorders that significantly contribute to cardiovascular morbidity and
Externí odkaz:
https://doaj.org/article/80c792ceb0a14684bf8fd412dffc43bb
Autor:
Raffaella Mistrulli, Caterina Micolonghi, Federico Follesa, Marco Fabiani, Erika Pagannone, Giulia D'Amati, Carla Giordano, Silvia Caroselli, Camilla Savio, Aldo Germani, Antonio Pizzuti, Vincenzo Visco, Simona Petrucci, Speranza Rubattu, Maria Piane, Camillo Autore
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101000- (2023)
ACM is a rare hereditary heart disease characterized by a progressive fibro-fatty replacement of the myocardium that can affect either the right or the left ventricle or both. It is mainly caused by variants in the desmosome genes with autosomal domi
Externí odkaz:
https://doaj.org/article/1570d952ccfc4e99adcd87a46f53fd2b
Autor:
Caterina Micolonghi, Marco Fabiani, Erika Pagannone, Camilla Savio, Marta Ricci, Silvia Caroselli, Vittoria Gambioli, Beatrice Musumeci, Aldo Germani, Giacomo Tini, Camillo Autore, Antonio Pizzuti, Vincenzo Visco, Speranza Rubattu, Simona Petrucci, Maria Piane
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 3, Pp 2422-2430 (2023)
Both genetic and environmental factors contribute to the development of dilated cardiomyopathy. Among the genes involved, TTN mutations, including truncated variants, explain 25% of DCM cases. We performed genetic counseling and analysis on a 57-year
Externí odkaz:
https://doaj.org/article/9a8c1944ddad4b528d4003b78aee96fe
Autor:
Evelina Rogges, Sabrina Pelliccia, Camilla Savio, Gianluca Lopez, Irene Della Starza, Giacinto La Verde, Arianna Di Napoli
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 7, p 3775 (2024)
Human herpesvirus 8 (HHV8)-associated diseases include Kaposi sarcoma (KS), multicentric Castleman disease (MCD), germinotropic lymphoproliferative disorder (GLPD), Kaposi sarcoma inflammatory cytokine syndrome (KICS), HHV8-positive diffuse large B-c
Externí odkaz:
https://doaj.org/article/084aefb07fc5422381addd8558da11af
Autor:
Francesco Cava, Caterina Micolonghi, Maria Beatrice Musumeci, Simona Petrucci, Camilla Savio, Marco Fabiani, Giacomo Tini, Aldo Germani, Fabio Libi, Carla Rossi, Vincenzo Visco, Antonio Pizzuti, Massimo Volpe, Camillo Autore, Speranza Rubattu, Maria Piane
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease, characterized by the presence of unexplained left ventricular hypertrophy. This condition is often associated with electrocardiographic abnormalities including QTc prolongation occur
Externí odkaz:
https://doaj.org/article/6ed17b1f6031429e95495c699b8134e3
Autor:
Flaviana Marzano, Matteo Chiara, Arianna Consiglio, Gabriele D’Amato, Mattia Gentile, Valentina Mirabelli, Maria Piane, Camilla Savio, Marco Fabiani, Domenica D’Elia, Elisabetta Sbisà, Gioacchino Scarano, Fortunato Lonardo, Apollonia Tullo, Graziano Pesole, Maria Felicia Faienza
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 15, p 12291 (2023)
Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPDII) represents the most common form of primordial dwarfism. MOPD clinical features include severe prenatal and postnatal growth retardation, postnatal severe microcephaly, hypotonia, and
Externí odkaz:
https://doaj.org/article/ac1ba8c87a9d474b9550f89502f7077d
Autor:
Daniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, Aldo Germani, Fabio Libi, Soha Sadeghi, Camilla Savio, Simona Petrucci, Laura De Marchis, Maria Piane, Antonio Pizzuti
Publikováno v:
Biomedicines, Vol 11, Iss 7, p 2062 (2023)
Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated (ATM) gene (MIM* 607585) increase the risk for breast, pancreatic, gastric, and prostatic cancer and, to a reduced extent, ovarian and colon cancer and melanoma, with moderate pe
Externí odkaz:
https://doaj.org/article/255bb07012884511b695345d641ba024
Autor:
Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, Camilla Savio, Claudia De Vitis, Simona Petrucci, Valentina Salvati, Marina Goldoni, Marco Fabiani, Alvaro Mesoraca, Caterina Micolonghi, Barbara Torres, Annalisa Piccinetti, Roberto Pippi, Rita Mancini
Publikováno v:
Diagnostics, Vol 12, Iss 12, p 2997 (2022)
Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare co
Externí odkaz:
https://doaj.org/article/15c58530b7d845daac9b955e8b259946
Autor:
Caterina Micolonghi, Maria Piane, Aldo Germani, Soha Sadeghi, Fabio Libi, Camilla Savio, Marco Fabiani, Rita Mancini, Danilo Ranieri, Antonio Pizzuti, Vito Domenico Corleto, Pasquale Parisi, Vincenzo Visco, Giovanni Di Nardo, Simona Petrucci
Publikováno v:
Diagnostics, Vol 12, Iss 11, p 2684 (2022)
Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by hyperplastic polyps in the upper and lower gastrointestinal (GI) tract with a high risk of developing GI cancers. We have described a three-generation Italian family
Externí odkaz:
https://doaj.org/article/8a86928455a94d798062d85bc1dfc421
Autor:
Francesco Cava, Ernesto Cristiano, Maria Beatrice Musumeci, Camilla Savio, Aldo Germani, Maria Lo Monaco, Simona Petrucci, Maria Rosaria Torrisi, Camillo Autore, Speranza Rubattu, Maria Piane
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100743- (2021)
QTc prolongation is reported in patients with hypertrophic cardiomyopathy (HCM). However, the causes of the QTc interval increase remain unclear. The main contribution to QTc prolongation in HCM is attributed to the myocardial hypertrophy and related
Externí odkaz:
https://doaj.org/article/d6f23213740c456c8173e2c6355619f6