Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject
Larrea-Sebal, Asier, Trenti, Chiara, Jebari-Benslaiman, Shifa, Bertolini, Stefano, Calandra, Sebastiano, Negri, Emanuele A, Bonelli, Efrem, Benito-Vicente, Asier, Uraga-Gracianteparaluceta, Leire, Martín, César, Fasano, Tommaso
Published in International journal of molecular sciences (01.02.2023)
Published in International journal of molecular sciences (01.02.2023)
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Plasma HDL pattern, cholesterol efflux and cholesterol loading capacity of serum in carriers of a novel missense variant (Gly176Trp) of endothelial lipase
Pisciotta, Livia, Ossoli, Alice, Ronca, Annalisa, Garuti, Anna, Fresa, Raffaele, Favari, Elda, Calabresi, Laura, Calandra, Sebastiano, Bertolini, Stefano
Published in Journal of clinical lipidology (01.09.2022)
Published in Journal of clinical lipidology (01.09.2022)
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk
Calandra, Sebastiano, Tarugi, Patrizia, Speedy, Helen E., Dean, Andrew F., Bertolini, Stefano, Shoulders, Carol C.
Published in Journal of lipid research (01.11.2011)
Published in Journal of lipid research (01.11.2011)
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Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis[S]
Minicocci, Ilenia, Santini, Sara, Cantisani, Vito, Stitziel, Nathan, Kathiresan, Sekar, Arroyo, Juan Antonio, Martí, Gertrudis, Pisciotta, Livia, Noto, Davide, Cefalù, Angelo B., Maranghi, Marianna, Labbadia, Giancarlo, Pigna, Giovanni, Pannozzo, Fabio, Ceci, Fabrizio, Ciociola, Ester, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Averna, Maurizio, Arca, Marcello
Published in Journal of lipid research (01.12.2013)
Published in Journal of lipid research (01.12.2013)
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Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia
Olmastroni, Elena, Gazzotti, Marta, Averna, Maurizio, Arca, Marcello, Tarugi, Patrizia, Calandra, Sebastiano, Bertolini, Stefano, Catapano, Alberico L, Casula, Manuela
Published in Journal of the American Heart Association (16.05.2023)
Published in Journal of the American Heart Association (16.05.2023)
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Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations
Olmastroni, Elena, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Pirillo, Angela, Catapano, Alberico Luigi, Casula, Manuela
Published in Journal of the American Heart Association (05.04.2022)
Published in Journal of the American Heart Association (05.04.2022)
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Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family
Concolino, Paola, De Paolis, Elisa, Moffa, Simona, Onori, Maria Elisabetta, Soldovieri, Laura, Ricciardi Tenore, Claudio, De Bonis, Maria, Rabacchi, Claudio, Santonocito, Concetta, Rinelli, Martina, Calandra, Sebastiano, Giaccari, Andrea, Urbani, Andrea, Minucci, Angelo
Published in Genes (01.06.2023)
Published in Genes (01.06.2023)
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Molecular diagnosis of hypobetalipoproteinemia: An ENID review
Tarugi, Patrizia, Averna, Maurizio, Di Leo, Enza, Cefalù, Angelo B, Noto, Davide, Magnolo, Lucia, Cattin, Luigi, Bertolini, Stefano, Calandra, Sebastiano
Published in Atherosclerosis (01.12.2007)
Published in Atherosclerosis (01.12.2007)
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The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
Gazzotti, Marta, Casula, Manuela, Bertolini, Stefano, Capra, Maria Elena, Olmastroni, Elena, Catapano, Alberico Luigi, Pederiva, Cristina
Published in Frontiers in genetics (20.06.2022)
Published in Frontiers in genetics (20.06.2022)
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Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride
Buonuomo, Paola Sabrina, Rabacchi, Claudio, Macchiaiolo, Marina, Trenti, Chiara, Fasano, Tommaso, Tarugi, Patrizia, Bartuli, Andrea, Bertolini, Stefano, Calandra, Sebastiano
Published in Journal of clinical lipidology (01.11.2017)
Published in Journal of clinical lipidology (01.11.2017)
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Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein
Garcia, Christine Kim, Wilund, Kenneth, Arca, Marcello, Zuliani, Giovanni, Fellin, Renato, Maioli, Mario, Calandra, Sebastiano, Bertolini, Stefano, Cossu, Fausto, Grishin, Nick, Barnes, Robert, Cohen, Jonathan C., Hobbs, Helen H.
Published in Science (American Association for the Advancement of Science) (18.05.2001)
Published in Science (American Association for the Advancement of Science) (18.05.2001)
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In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia
Rabacchi, Claudio, Simone, Maria Luisa, Pisciotta, Livia, Di Leo, Enza, Bocchi, Davide, Pietrangelo, Antonello, D'Addato, Sergio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia
Published in Journal of clinical lipidology (01.11.2019)
Published in Journal of clinical lipidology (01.11.2019)
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Journal Article
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene
Rabacchi, Claudio, PhD, D'Addato, Sergio, MD, Palmisano, Silvia, MD, Lucchi, Tiziano, MD, Bertolini, Stefano, MD, Calandra, Sebastiano, MD, Tarugi, Patrizia, PhD
Published in Journal of clinical lipidology (01.07.2016)
Published in Journal of clinical lipidology (01.07.2016)
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Journal Article
Inherited Apolipoprotein A-V Deficiency in Severe Hypertriglyceridemia
Oliva, Claudio Priore, Pisciotta, Livia, Volti, Giovanni Li, Sambataro, Maria Paola, Cantafora, Alfredo, Bellocchio, Antonella, Catapano, Alberico, Tarugi, Patrizia, Bertolini, Stefano, Calandra, Sebastiano
Published in Arteriosclerosis, thrombosis, and vascular biology (01.02.2005)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.02.2005)
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Journal Article
A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene
Buonuomo, Paola Sabrina, MD, Bartuli, Andrea, MD, Rabacchi, Claudio, PhD, Bertolini, Stefano, MD, Calandra, Sebastiano, MD
Published in Journal of clinical lipidology (01.03.2015)
Published in Journal of clinical lipidology (01.03.2015)
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Journal Article
The Type of LDLR Gene Mutation Predicts Cardiovascular Risk in Children with Familial Hypercholesterolemia
Guardamagna, Ornella, MD, Restagno, Gabriella, MD, Rolfo, Elio, MD, Pederiva, Cristina, MD, Martini, Scipione, MD, Abello, Francesca, MD, Baracco, Viviana, MD, Pisciotta, Livia, MD, Pino, Elisabetta, MD, Calandra, Sebastiano, MD, Bertolini, Stefano, MD
Published in The Journal of pediatrics (01.08.2009)
Published in The Journal of pediatrics (01.08.2009)
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Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis
Ariza, María José, PhD, Martínez-Hernández, Pedro Luis, MD, PhD, Ibarretxe, Daiana, MD, Rabacchi, Claudio, PhD, Rioja, José, PhD, Grande-Aragón, Cristina, PhD, Plana, Nuria, MD, PhD, Tarugi, Patrizia, PhD, Olivecrona, Gunilla, PhD, Calandra, Sebastiano, MD, Valdivielso, Pedro, MD, PhD
Published in Journal of clinical lipidology (2016)
Published in Journal of clinical lipidology (2016)
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Journal Article
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
Pisciotta, Livia, Oliva, Claudio Priore, Cefalù, Angelo Baldassare, Noto, Davide, Bellocchio, Antonella, Fresa, Raffaele, Cantafora, Alfredo, Patel, Dilip, Averna, Maurizio, Tarugi, Patrizia, Calandra, Sebastiano, Bertolini, Stefano
Published in Atherosclerosis (01.06.2006)
Published in Atherosclerosis (01.06.2006)
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