Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
Tromp, Tycho R, Hartgers, Merel L, Hovingh, G Kees, Soran, Handrean, Freiberger, Tomas, Bertolini, Stefano, Harada-Shiba, Mariko, Cuchel, Marina, Tromp, Tycho R., Hartgers, Merel L., Vallejo-Vaz, Antonio J., Soran, Handrean, Bertolini, Stefano A., Pang, Jing, Watts, Gerald F., Stulnig, Thomas M., Descamps, Olivier S., Rymen, Daisy, Witters, Peter, Brunham, Liam R., Genest, Jacques, Ruel, Isabelle, Wang, Luya, Reiner, Željko, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Lukas, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Elisaf, Moses S., Cohen, Hofit, Elis, Avishay, Hussein, Osama, Setia, Nitika, Verma, Ishwar C., Alareedh, Mohammed D., Rhadi, Sabah H., Shaghee, Foaad K., Arca, Marcello, Averna, Maurizio, Bucci, Marco, Buonuomo, Paola S., Calabrò, Paolo, Casula, Manuela, Cefalù, Angelo B., D'Addato, Sergio, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Rabacchi, Claudio, Ripoli, Carlo, Sbrana, Francesco, Tarugi, Patrizia, Trenti, Chiara, Hori, Mika, Ayesh, Mahmoud H., Azar, Sami T., Bitar, Fadi F., Madriz, Ramón, Cupido, Arjen J., Reijman, M. Doortje, Roeters-van Lennep, Jeanine E., Wiegman, Albert, Zuurbier, Linda, Sadiq, Fouzia, Chlebus, Krzysztof, Susekov, Andrey V., Charng, Min-Ji, Aktan, Melih, Altunkeser, Bulent B., Demircioglu, Sinan, Kose, Melis, Ilhan, Osman, Kayikcioglu, Meral, Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, Ozcebe, Osman I., Pekkolay, Zafer, Yenercag, Mustafa, Yilmaz Yasar, Hamiyet, Lyons, Alexander R.M., Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Truong, Thanh-Huong, Blom, Dirk J., Raal, Frederick J., Cuchel, Marina
Published in The Lancet (British edition) (19.02.2022)
Published in The Lancet (British edition) (19.02.2022)
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Nutraceutical pill containing berberine versus ezetimibe on plasma lipid pattern in hypercholesterolemic subjects and its additive effect in patients with familial hypercholesterolemia on stable cholesterol-lowering treatment
Pisciotta, Livia, Bellocchio, Antonella, Bertolini, Stefano
Published in Lipids in health and disease (22.09.2012)
Published in Lipids in health and disease (22.09.2012)
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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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Corrigendum: 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 (18.04.2023)
Published in Frontiers in genetics (18.04.2023)
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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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Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
Di Rocco, Maja, Pisciotta, Livia, Madeo, Annalisa, Bertamino, Marta, Bertolini, Stefano
Published in Orphanet journal of rare diseases (27.01.2018)
Published in Orphanet journal of rare diseases (27.01.2018)
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Lipoproteins, stroke and statins
Pisciotta, Livia, Bertolini, Stefano, Pende, Aldo
Published in Current vascular pharmacology (01.05.2015)
Published in Current vascular pharmacology (01.05.2015)
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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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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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Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
D’Erasmo, Laura, Giammanco, Antonina, Suppressa, Patrizia, Pavanello, Chiara, Iannuzzo, Gabriella, Di Costanzo, Alessia, Tramontano, Daniele, Minicocci, Ilenia, Bini, Simone, Vogt, Anja, Stewards, Kim, Roeters Van Lennep, Jeanine, Bertolini, Stefano, Arca, Marcello
Published in Frontiers in genetics (22.08.2022)
Published in Frontiers in genetics (22.08.2022)
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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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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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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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