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Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
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Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

Bertolini, Stefano ; Pisciotta, Livia ; Rabacchi, Claudio ; Cefalù, Angelo B ; Noto, Davide ; Fasano, Tommaso ; Signori, Alessio ; Fresa, Raffaele ; Averna, Maurizio ; Calandra, Sebastiano

Atherosclerosis, 2013-04, Vol.227 (2), p.342-348 [Periódico revisado por pares]

Ireland: Elsevier Ireland Ltd

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2
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis[S]
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis[S]
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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

Journal of lipid research, 2013-12, Vol.54 (12), p.3481-3490 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
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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

The Lancet (British edition), 2022-02, Vol.399 (10326), p.719-728 [Periódico revisado por pares]

England: Elsevier Ltd

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4
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia
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Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia

Rabacchi, Claudio ; Pisciotta, Livia ; Cefalù, Angelo B ; Noto, Davide ; Fresa, Raffaele ; Tarugi, Patrizia ; Averna, Maurizio ; Bertolini, Stefano ; Calandra, Sebastiano

Atherosclerosis, 2015-07, Vol.241 (1), p.79-86 [Periódico revisado por pares]

Ireland: Elsevier Ireland Ltd

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5
Molecular diagnosis of hypobetalipoproteinemia: An ENID review
Molecular diagnosis of hypobetalipoproteinemia: An ENID review
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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

Atherosclerosis, 2007-12, Vol.195 (2), p.e19-e27 [Periódico revisado por pares]

Ireland: Elsevier Ireland Ltd

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6
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry
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Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry

D'Erasmo, Laura ; Bini, Simone ; Casula, Manuela ; Gazzotti, Marta ; Bertolini, Stefano ; Calandra, Sebastiano ; Tarugi, Patrizia ; Averna, Maurizio ; Iannuzzo, Gabriella ; Fortunato, Giuliana ; Catapano, Alberico L ; Arca, Marcello

European journal of preventive cardiology, 2024-02 [Periódico revisado por pares]

England

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7
The Molecular Basis of Lecithin:Cholesterol Acyltransferase Deficiency Syndromes: A Comprehensive Study of Molecular and Biochemical Findings in 13 Unrelated Italian Families
The Molecular Basis of Lecithin:Cholesterol Acyltransferase Deficiency Syndromes: A Comprehensive Study of Molecular and Biochemical Findings in 13 Unrelated Italian Families
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The Molecular Basis of Lecithin:Cholesterol Acyltransferase Deficiency Syndromes: A Comprehensive Study of Molecular and Biochemical Findings in 13 Unrelated Italian Families

Calabresi, Laura ; Pisciotta, Livia ; Costantin, Anna ; Frigerio, Ilaria ; Eberini, Ivano ; Alessandrini, Paola ; Arca, Marcello ; Bon, Gabriele Bittolo ; Boscutti, Giuliano ; Busnach, Ghil ; Frascà, Giovanni ; Gesualdo, Loreto ; Gigante, Maddalena ; Lupattelli, Graziana ; Montali, Anna ; Pizzolitto, Stefano ; Rabbone, Ivana ; Rolleri, Marina ; Ruotolo, Giacomo ; Sampietro, Tiziana ; Sessa, Adalberto ; Vaudo, Gaetano ; Cantafora, Alfredo ; Veglia, Fabrizio ; Calandra, Sebastiano ; Bertolini, Stefano ; Franceschini, Guido

Arteriosclerosis, thrombosis, and vascular biology, 2005-09, Vol.25 (9), p.1972-1978 [Periódico revisado por pares]

Philadelphia, PA: American Heart Association, Inc

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8
Corrigendum to “Molecular diagnosis of hypobetalipoproteinemia: An ENID review” [Atherosclerosis 195 (2) (2007) 19–27]
Corrigendum to “Molecular diagnosis of hypobetalipoproteinemia: An ENID review” [Atherosclerosis 195 (2) (2007) 19–27]
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Corrigendum to “Molecular diagnosis of hypobetalipoproteinemia: An ENID review” [Atherosclerosis 195 (2) (2007) 19–27]

Tarugi, Patrizia ; Averna, Maurizio ; Di Leo, Enza ; Cefalù, Angelo B ; Noto, Davide ; Magnolo, Lucia ; Cattin, Luigi ; Bertolini, Stefano ; Calandra, Sebastiano

Atherosclerosis, 2016-10, Vol.253, p.e1-e1 [Periódico revisado por pares]

Ireland: Elsevier B.V

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9
Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia
Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia
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Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia

Bertolini, Stefano ; Pisciotta, Livia ; Di Scala, Lilla ; Langheim, Silvia ; Bellocchio, Antonella ; Masturzo, Paola ; Cantafora, Alfredo ; Martini, Scipione ; Averna, Maurizio ; Pes, Gianni ; Stefanutti, Claudio ; Calandra, Sebastiano

Atherosclerosis, 2004-05, Vol.174 (1), p.57-65 [Periódico revisado por pares]

Amsterdam: Elsevier Ireland Ltd

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10
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency
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Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency

Fasano, Tommaso ; Zanoni, Paolo ; Rabacchi, Claudio ; Pisciotta, Livia ; Favari, Elda ; Adorni, Maria Pia ; Deegan, Patrick B. ; Park, Adrian ; Hlaing, Thinn ; Feher, Michael D. ; Jones, Ben ; Uzak, Asli Subasioglu ; Kardas, Fatih ; Dardis, Andrea ; Sechi, Annalisa ; Bembi, Bruno ; Minuz, Pietro ; Bertolini, Stefano ; Bernini, Franco ; Calandra, Sebastiano

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.534-541 [Periódico revisado por pares]

United States: Elsevier Inc

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