Familial hypercholesterolemia: A complex genetic disease with variable phenotypes von Di Taranto, Maria Donata, Giacobbe, Carola, Fortunato, Giuliana

Volltext

Galectin-3 in Cardiovascular Diseases von Blanda, Valeria, Bracale, Umberto Marcello, Di Taranto, Maria Donata, Fortunato, Giuliana

Volltext

Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis von Di Taranto, Maria Donata, Fortunato, Giuliana

Volltext

Endothelial function improvement in patients with familial hypercholesterolemia receiving PCSK-9 inhibitors on top of maximally tolerated lipid lowering therapy von Di Minno, Alessandro, Gentile, Marco, Iannuzzo, Gabriella, Calcaterra, Ilenia, Tripaldella, Maria, Porro, Benedetta, Cavalca, Viviana, Di Taranto, Maria Donata, Tremoli, Elena, Fortunato, Giuliana, Rubba, Paolo Osvaldo Federico, Di Minno, Matteo Nicola Dario

Volltext

Periprocedural myocardial infarction in patients undergoing complex versus noncomplex percutaneous coronary intervention von Piccolo, Raffaele, Leone, Attilio, Simonetti, Fiorenzo, Avvedimento, Marisa, Angellotti, Domenico, Manzi, Lina, Verde, Nicola, Spaccarotella, Carmen Anna Maria, Di Serafino, Luigi, Cirillo, Plinio, Gargiulo, Giuseppe, Fortunato, Giuliana, Franzone, Anna, Esposito, Giovanni

Volltext

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in sampl... von Futema, Marta, Shah, Sonia, Cooper, Jackie A, Li, KaWah, Whittall, Ros A, Sharifi, Mahtab, Goldberg, Olivia, Drogari, Euridiki, Mollaki, Vasiliki, Wiegman, Albert, Defesche, Joep, D'Agostino, Maria N, D'Angelo, Antonietta, Rubba, Paolo, Fortunato, Giuliana, Waluś-Miarka, Małgorzata, Hegele, Robert A, Aderayo Bamimore, Mary, Durst, Ronen, Leitersdorf, Eran, Mulder, Monique T, Roeters van Lennep, Jeanine E, Sijbrands, Eric J G, Whittaker, John C, Talmud, Philippa J, Humphries, Steve E

Volltext

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia von Di Taranto, Maria Donata, Benito-Vicente, Asier, Giacobbe, Carola, Uribe, Kepa Belloso, Rubba, Paolo, Etxebarria, Aitor, Guardamagna, Ornella, Gentile, Marco, Martín, Cesar, Fortunato, Giuliana

Volltext

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement von Di Taranto, Maria Donata, Giacobbe, Carola, Palma, Daniela, Iannuzzo, Gabriella, Gentile, Marco, Calcaterra, Ilenia, Guardamagna, Ornella, Auricchio, Renata, Di Minno, Matteo Nicola Dario, Fortunato, Giuliana

Volltext

Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio von Di Taranto, Maria Donata, de Falco, Renato, Guardamagna, Ornella, Massini, Giulia, Giacobbe, Carola, Auricchio, Renata, Malamisura, Basilio, Proto, Michela, Palma, Daniela, Greco, Luigi, Fortunato, Giuliana

Volltext

Correlation between low adenosine A2A receptor expression and hypercholesterolemia: A new component of the cardiovascular risk? von Vairo, Donato, Giacobbe, Carola, Guiol, Claire, Chaptal, Marie-Charlotte, Di Taranto, Maria Donata, Bruzzese, Laurie, Ruf, Jean, Guieu, Régis, Fortunato, Giuliana, Fenouillet, Emmanuel, Mottola, Giovanna

Volltext

Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA) von Tarugi, Patrizia, Bertolini, Stefano, Calandra, Sebastiano, Arca, Marcello, Angelico, Francesco, Casula, Manuela, Cefalù, Angelo B., D'Erasmo, Laura, Fortunato, Giuliana, Perrone-Filardi, Pasquale, Rubba, Paolo, Suppressa, Patrizia, Averna, Maurizio, Catapano, Alberico L.

Volltext

The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9 von Sánchez-Hernández, Rosa M., Di Taranto, Maria Donata, Benito-Vicente, Asier, Uribe, Kepa B., Lamiquiz-Moneo, Itziar, Larrea-Sebal, Asier, Jebari, Shifa, Galicia-Garcia, Unai, Nóvoa, F. Javier, Boronat, Mauro, Wägner, Ana M., Civeira, Fernando, Martín, César, Fortunato, Giuliana

Volltext

Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with familial hypercholesterolemia: A single center real-world study von Iannuzzo, Gabriella, Buonaiuto, Alessio, Calcaterra, Ilenia, Gentile, Marco, Forte, Francesco, Tripaldella, Maria, Di Taranto, Maria D., Giacobbe, Carola, Fortunato, Giuliana, Rubba, Paolo O., Di Minno, Matteo N. Dario

Volltext

Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia von Rubba, Paolo, Gentile, Marco, Marotta, Gennaro, Iannuzzi, Arcangelo, Sodano, Marta, De Simone, Biagio, Jossa, Fabrizio, Iannuzzo, Gabriella, Giacobbe, Carola, Di Taranto, Maria D, Fortunato, Giuliana

Volltext

Changes in carotid stiffness in patients with familial hypercholesterolemia treated with Evolocumab®: A prospective cohort study von Di Minno, Matteo Nicola D., Gentile, Marco, Di Minno, Alessandro, Iannuzzo, Gabriella, Calcaterra, Ilenia, Buonaiuto, Alessio, Di Taranto, Maria D., Giacobbe, Carola, Fortunato, Giuliana, Rubba, Paolo O.F.

Volltext

Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome von Ferrandino, Martina, Cardiero, Giovanna, Di Dato, Fabiola, Cerrato, Ylenia, Vitagliano, Luigi, Mandato, Claudia, Morisco, Filomena, Spagnuolo, Maria Immacolata, Iorio, Raffaele, Di Taranto, Maria Donata, Fortunato, Giuliana

Volltext

Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia von Cardiero, Giovanna, Ferrandino, Martina, Calcaterra, Ilenia Lorenza, Iannuzzo, Gabriella, Di Minno, Matteo Nicola Dario, Buganza, Raffaele, Guardamagna, Ornella, Auricchio, Renata, Di Taranto, Maria Donata, Fortunato, Giuliana

Volltext

A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene von Gelzo, Monica, Di Taranto, Maria Donata, Bisecco, Alvino, D’Amico, Alessandra, Capuano, Rocco, Giacobbe, Carola, Caputo, Mafalda, Cirillo, Mario, Tedeschi, Gioacchino, Fortunato, Giuliana, Corso, Gaetano

Volltext

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey von D'Erasmo, Laura, Gallo, Antonio, Cefalù, Angelo Baldassare, Di Costanzo, Alessia, Saheb, Samir, Giammanco, Antonina, Averna, Maurizio, Buonaiuto, Alessio, Iannuzzo, Gabriella, Fortunato, Giuliana, Puja, Arturo, Montalcini, Tiziana, Pavanello, Chiara, Calabresi, Laura, Vigna, Giovanni Battista, Bucci, Marco, Bonomo, Katia, Nota, Fabio, Sampietro, Tiziana, Sbrana, Francesco, Suppressa, Patrizia, Sabbà, Carlo, Fimiani, Fabio, Cesaro, Arturo, Calabrò, Paolo, Palmisano, Silvia, D'Addato, Sergio, Pisciotta, Livia, Bertolini, Stefano, Bittar, Randa, Kalmykova, Olga, Béliard, Sophie, Carrié, Alain, Arca, Marcello, Bruckert, Eric

Volltext

Targeting Nanostrategies for Imaging of Atherosclerosis von Costagliola di Polidoro, Angela, Grassia, Agnese, De Sarno, Francesca, Bevilacqua, Paolo, Mollo, Valentina, Romano, Eugenia, Di Taranto, Maria Donata, Fortunato, Giuliana, Bracale, Umberto Marcello, Tramontano, Liberatore, Diomaiuti, Tommaso Claudio, Torino, Enza

Volltext