Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Rosanna Bagnulo"'
Autor:
Stefania Martino, Pietro D’Addabbo, Antonella Turchiano, Francesca Clementina Radio, Alessandro Bruselles, Viviana Cordeddu, Cecilia Mancini, Alessandro Stella, Nicola Laforgia, Donatella Capodiferro, Simonetta Simonetti, Rosanna Bagnulo, Orazio Palumbo, Flaviana Marzano, Ornella Tabaku, Antonella Garganese, Michele Stasi, Marco Tartaglia, Graziano Pesole, Nicoletta Resta
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9637 (2024)
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid and amino acid oxidation with an incidence of 1 in 200,000 live births. MADD has three clinical phenotypes: severe neonatal-onset with or with
Externí odkaz:
https://doaj.org/article/ee4504835bc64bde8310e3fc88be97d4
Autor:
Giovanna Forte, Filomena Cariola, Antonia Lucia Buonadonna, Anna Filomena Guglielmi, Andrea Manghisi, Katia De Marco, Valentina Grossi, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Rosanna Bagnulo, Nicoletta Resta, Vittoria Disciglio, Cristiano Simone
Publikováno v:
Genes and Diseases, Vol 11, Iss 2, Pp 1084- (2024)
Externí odkaz:
https://doaj.org/article/85689712f5434c3caf431daeca8fc522
Autor:
Cinzia Forleo, Maria Cristina Carella, Paolo Basile, Eugenio Carulli, Michele Luca Dadamo, Francesca Amati, Francesco Loizzi, Sandro Sorrentino, Ilaria Dentamaro, Marco Maria Dicorato, Stefano Ricci, Rosanna Bagnulo, Matteo Iacoviello, Vincenzo Ezio Santobuono, Carlo Caiati, Martino Pepe, Jean-Francois Desaphy, Marco Matteo Ciccone, Nicoletta Resta, Andrea Igoren Guaricci
Publikováno v:
Biomedicines, Vol 12, Iss 6, p 1293 (2024)
Arrhythmic risk stratification in patients with Lamin A/C gene (LMNA)-related cardiomyopathy influences clinical decisions. An implantable cardioverter defibrillator (ICD) should be considered in patients with an estimated 5-year risk of malignant ve
Externí odkaz:
https://doaj.org/article/b647d6fc10dd4129b0e3ea8b1c068f9d
Autor:
Giovanna Forte, Filomena Cariola, Antonia Lucia Buonadonna, Anna Filomena Guglielmi, Andrea Manghisi, Katia De Marco, Valentina Grossi, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Rosanna Bagnulo, Nicoletta Resta, Vittoria Disciglio, Cristiano Simone
Publikováno v:
Genes and Diseases, Vol 10, Iss 4, Pp 1187-1189 (2023)
Externí odkaz:
https://doaj.org/article/98534bd75c294ac18e9690010718e4ac
Autor:
Antonella Turchiano, Marilidia Piglionica, Stefania Martino, Rosanna Bagnulo, Antonella Garganese, Annunziata De Luisi, Stefania Chirulli, Matteo Iacoviello, Michele Stasi, Ornella Tabaku, Eleonora Meneleo, Martina Capurso, Silvia Crocetta, Simone Lattarulo, Yevheniia Krylovska, Patrizia Lastella, Cinzia Forleo, Alessandro Stella, Nenad Bukvic, Cristiano Simone, Nicoletta Resta
Publikováno v:
Genes, Vol 14, Iss 8, p 1530 (2023)
Breast cancer (BC) is the most common cancer and the leading cause of cancer death in women worldwide. Since the discovery of the highly penetrant susceptibility genes BRCA1 and BRCA2, many other predisposition genes that confer a moderate risk of BC
Externí odkaz:
https://doaj.org/article/d062736c3c07428fbfe92390d0b9f52e
Autor:
Bashar M. Thejer, Vittoria Infantino, Anna Santarsiero, Ilaria Pappalardo, Francesca S. Abatematteo, Sarah Teakel, Ashleigh Van Oosterum, Robert H. Mach, Nunzio Denora, Byung Chul Lee, Nicoletta Resta, Rosanna Bagnulo, Mauro Niso, Marialessandra Contino, Bianca Montsch, Petra Heffeter, Carmen Abate, Michael A. Cahill
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 7, p 6381 (2023)
Sigma-2 receptor (S2R) is a S2R ligand-binding site historically associated with reportedly 21.5 kDa proteins that have been linked to several diseases, such as cancer, Alzheimer’s disease, and schizophrenia. The S2R is highly expressed in various
Externí odkaz:
https://doaj.org/article/62c9cbd125aa40c5bb0a69a3f26b203b
Autor:
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta
Publikováno v:
Genes, Vol 14, Iss 1, p 165 (2023)
Pathogenic variants in genes are involved in histone acetylation and deacetylation resulting in congenital anomalies, with most patients displaying a neurodevelopmental disorder and dysmorphism. Arboleda-Tham syndrome caused by pathogenic variants in
Externí odkaz:
https://doaj.org/article/d0f26c5ae3f442918ebf6f3ca5d76b3d
Autor:
Antonella Turchiano, Daria Carmela Loconte, Rosalba De Nola, Francesca Arezzo, Giulia Chiarello, Antonino Pantaleo, Matteo Iacoviello, Rosanna Bagnulo, Annunziata De Luisi, Sonia Perrelli, Stefania Martino, Carlotta Ranieri, Antonella Garganese, Alessandro Stella, Cinzia Forleo, Vera Loizzi, Marco Marinaccio, Ettore Cicinelli, Gennaro Cormio, Nicoletta Resta
Publikováno v:
Cancers, Vol 14, Iss 2, p 365 (2022)
Background: Pathogenic variants in homologous recombination repair (HRR) genes other than BRCA1/2 have been associated with a high risk of ovarian cancer (OC). In current clinical practice, genetic testing is generally limited to BRCA1/2. Herein, we
Externí odkaz:
https://doaj.org/article/b86edfeb9f6344f797a86c7b64d73e99
Autor:
Margherita Patruno, Simona De Summa, Nicoletta Resta, Mariapia Caputo, Silvia Costanzo, Maria Digennaro, Brunella Pilato, Rosanna Bagnulo, Antonino Pantaleo, Cristiano Simone, Maria Iole Natalicchio, Elisabetta De Matteis, Paolo Tarantino, Stefania Tommasi, Angelo Paradiso
Publikováno v:
Cancers, Vol 13, Iss 18, p 4714 (2021)
BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wi
Externí odkaz:
https://doaj.org/article/1c011991046a4b6597b9e18db9850037
Autor:
Nicola Laforgia, Lucrezia De Cosmo, Orazio Palumbo, Carlotta Ranieri, Michela Sesta, Donatella Capodiferro, Antonino Pantaleo, Pierluigi Iapicca, Patrizia Lastella, Manuela Capozza, Federico Schettini, Nenad Bukvic, Rosanna Bagnulo, Nicoletta Resta
Publikováno v:
Genes, Vol 11, Iss 12, p 1519 (2020)
Congenital myasthenic syndromes (CMSs) are caused by mutations in genes that encode proteins involved in the organization, maintenance, function, or modification of the neuromuscular junction. Among these, the collagenic tail of endplate acetylcholin
Externí odkaz:
https://doaj.org/article/e14ce85efd0a4e1883429129b5fdf978