Publications by authors named "Sebastiano Calandra"

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Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.
Laura D'Erasmo, Daniele Tramontano, Alessia Di Costanzo, Manuela Casula, Federica Galimberti, Sebastiano Calandra

Arterioscler Thromb Vasc Biol· December 2025

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Diagnosis and Screening Strategies for Detection of Familial Hypercholesterolaemia in Children and Adolescents in Italy: A Survey from the LIPIGEN Paediatric Group.
Cristina Pederiva, Federica Galimberti, Manuela Casula, Giuseppe Banderali, Guglielmo Beccuti, Sebastiano Calandra

Children (Basel)· February 2025

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Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA).
Patrizia Tarugi, Stefano Bertolini, Sebastiano Calandra, Marcello Arca, Francesco Angelico

Nutr Metab Cardiovasc Dis· August 2024

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Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry.
Laura D'Erasmo, Simone Bini, Manuela Casula, Marta Gazzotti, Stefano Bertolini, Sebastiano Calandra

Eur J Prev Cardiol· June 2024

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Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group.
Cristina Pederiva, Marta Gazzotti, Marcello Arca, Maurizio Averna, Giuseppe Banderali, Sebastiano Calandra

Nutrients· August 2023

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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.
Paola Concolino, Elisa De Paolis, Simona Moffa, Maria Elisabetta Onori, Laura Soldovieri, Sebastiano Calandra

Genes (Basel)· June 2023

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Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia.
Elena Olmastroni, Marta Gazzotti, Maurizio Averna, Marcello Arca, Patrizia Tarugi, Sebastiano Calandra

J Am Heart Assoc· May 2023

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Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject.
Asier Larrea-Sebal, Chiara Trenti, Shifa Jebari-Benslaiman, Stefano Bertolini, Sebastiano Calandra

Int J Mol Sci· February 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.
Livia Pisciotta, Alice Ossoli, Annalisa Ronca, Anna Garuti, Raffaele Fresa, Sebastiano Calandra

J Clin Lipidol· November 2022

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Lipoprotein(a) and family history for cardiovascular disease in paediatric patients: A new frontier in cardiovascular risk stratification. Data from the LIPIGEN paediatric group.
Cristina Pederiva, Maria Elena Capra, Giacomo Biasucci, Giuseppe Banderali, Enrico Fabrizi, Sebastiano Calandra

Atherosclerosis· May 2022

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Search for familial hypercholesterolemia patients in an Italian community: A real-life retrospective study.
Tommaso Fasano, Chiara Trenti, Emanuele A Negri, Vincenzo Guiducci, Marco Foracchia, Sebastiano Calandra

Nutr Metab Cardiovasc Dis· March 2022

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Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.
Stefano Bertolini, Sebastiano Calandra, Marcello Arca, Maurizio Averna, Alberico L Catapano

Atherosclerosis· November 2020

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In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia.
Claudio Rabacchi, Maria Luisa Simone, Livia Pisciotta, Enza Di Leo, Davide Bocchi, Sebastiano Calandra

J Clin Lipidol· July 2020

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Novel mutations of SAR1B gene in four children with chylomicron retention disease.
Maria Luisa Simone, Claudio Rabacchi, Zarife Kuloglu, Aydan Kansu, Arzu Ensari, Sebastiano Calandra

J Clin Lipidol· June 2020

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Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia.
Patrizia Tarugi, Stefano Bertolini, Sebastiano Calandra

J Biomed Res· April 2019

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Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.
Paola Sabrina Buonuomo, Claudio Rabacchi, Marina Macchiaiolo, Chiara Trenti, Tommaso Fasano, Sebastiano Calandra

J Clin Lipidol· July 2018

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Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.
Claudio Rabacchi, Sergio D'Addato, Silvia Palmisano, Tiziano Lucchi, Stefano Bertolini, Sebastiano Calandra

J Clin Lipidol· October 2017

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Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
Claudio Rabacchi, Federico Bigazzi, Mariarita Puntoni, Francesco Sbrana, Tiziana Sampietro, Sebastiano Calandra

J Clin Lipidol· October 2017

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Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Livia Pisciotta, Giulia Tozzi, Lorena Travaglini, Roberta Taurisano, Tiziano Lucchi, Sebastiano Calandra

Atherosclerosis· October 2017

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The study of familial hypercholesterolemia in Italy: A narrative review.
Stefano Bertolini, Livia Pisciotta, Tommaso Fasano, Claudio Rabacchi, Sebastiano Calandra

Atheroscler Suppl· October 2017

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Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN).
Maurizio Averna, Angelo B Cefalù, Manuela Casula, Davide Noto, Marcello Arca, Sebastiano Calandra

Atheroscler Suppl· October 2017

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Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
Angela Pirillo, Katia Garlaschelli, Marcello Arca, Maurizio Averna, Stefano Bertolini, Sebastiano Calandra

Atheroscler Suppl· October 2017

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Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutations.
Pietro Minuz, Alessandra Meneguzzi, Eti Alessandra Femia, Cristiano Fava, Stefano Calabria, Sebastiano Calandra

Clin Sci (Lond)· August 2017

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Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
Paola Sabrina Buonuomo, Lorenzo Iughetti, Livia Pisciotta, Claudio Rabacchi, Francesco Papadia, Sebastiano Calandra

Atherosclerosis· July 2017

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Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.
Sebastiano Calandra, Patrizia Tarugi, Stefano Bertolini

Curr Opin Lipidol· June 2017

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