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Stefano Bertolini

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Stefano Bertolini; Maurizio Averna; Angelo B Cefalù; Tommaso Fasano; Raffaele Fresa; Davide Noto; Livia Pisciotta; Claudio Rabacchi; Alessio Signori; Sebastiano Calandra
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
Claudio Stefanutti; Giovanna Bosco; Patrizia D'Eufemia; Serafina Di Giacomo; Maria Gozzer; Claudia Morozzi; Francesco Papadia; Livia Pisciotta; Manhaz Shafii; Stefano Bertolini
A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment.
Tommaso Fasano; Elda Favari; Michael D Feher; Thinn Hlaing; Ben Jones; Fatih Kardas; Pietro Minuz; Adrian Park; Livia Pisciotta; Claudio Rabacchi; Annalisa Sechi; Asli Subasioglu Uzak; Paolo Zanoni; Maria Pia Adorni; Bruno Bembi; Franco Bernini; Stefano Bertolini; Andrea Dardis; Patrick B Deegan; Sebastiano Calandra
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

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All Publications

2013: Stefano Bertolini; Maurizio Averna; Angelo B Cefalù; Tommaso Fasano; Raffaele Fresa; Davide Noto; Livia Pisciotta; Claudio Rabacchi; Alessio Signori; Sebastiano Calandra
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
Atherosclerosis 2013;227(2):342-8.
2013: Claudio Stefanutti; Giovanna Bosco; Patrizia D'Eufemia; Serafina Di Giacomo; Maria Gozzer; Claudia Morozzi; Francesco Papadia; Livia Pisciotta; Manhaz Shafii; Stefano Bertolini
A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment.
Atherosclerosis. Supplements 2013;14(1):73-6.
2012: Tommaso Fasano; Elda Favari; Michael D Feher; Thinn Hlaing; Ben Jones; Fatih Kardas; Pietro Minuz; Adrian Park; Livia Pisciotta; Claudio Rabacchi; Annalisa Sechi; Asli Subasioglu Uzak; Paolo Zanoni; Maria Pia Adorni; Bruno Bembi; Franco Bernini; Stefano Bertolini; Andrea Dardis; Patrick B Deegan; Sebastiano Calandra
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
Molecular genetics and metabolism 2012;107(3):534-41.
2012: Tommaso Fasano; Mirella Filocamo; Ornella Guardamagna; Livia Pisciotta; Claudio Rabacchi; Paolo Zanoni; Paola Assandro; Stefano Bertolini; Letizia Bocchi; Sebastiano Calandra
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.
Molecular genetics and metabolism 2012;105(3):450-6.
2012: Livia Pisciotta; Raffaella Sallo; Sara Simonelli; Patrizia Tarugi; Ivana Zavaroni; Maria Pia Adorni; Diego Ardigò; Franco Bernini; Laura Calabresi; Sebastiano Calandra; Tatiana Fancello; Elda Favari; Guido Franceschini; Lucia Magnolo; Stefano Bertolini
Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.
Circulation. Cardiovascular genetics 2012;5(1):42-50.
2011: Livia Pisciotta; Claudio Priore Oliva; antonella bellocchio; Sebastiano Calandra; Raffaele Fresa; Virgilia Guido; Stefano Bertolini
Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.
Clinica chimica acta; international journal of clinical chemistry 2011;412(23-24):2194-8.
2011: Sebastiano Calandra; Andrew F Dean; Helen E Speedy; Patrizia Tarugi; Stefano Bertolini; Carol C Shoulders
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
Journal of lipid research 2011;52(11):1885-926.
2011: Sebastiano Calandra; Patrizia Tarugi; Stefano Bertolini
Altered mRNA splicing in lipoprotein disorders.
Current opinion in lipidology 2011;22(2):93-9.
2010: Livia Pisciotta; Patrizia Tarugi; Claudia Borrini; antonella bellocchio; Raffaele Fresa; Deanna Guerra; Daniela Quaglino; Ivonne Ronchetti; Sebastiano Calandra; Stefano Bertolini
Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors.
Atherosclerosis 2010;210(1):173-6.
2010: Letizia Bocchi; Livia Pisciotta; Tommaso Fasano; Chiara Candini; Maria Rita Puntoni; Tiziana Sampietro; Stefano Bertolini; Sebastiano Calandra
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease.
Clinica chimica acta; international journal of clinical chemistry 2010;411(7-8):524-30.
2009: Fabiana Filigheddu; Fabiana Quagliarini; Filomena Campagna; Tanuccia Secci; Simona Degortes; Roberta Zaninello; Giuseppe Argiolas; Roberto Verna; Silvia Pitzoi; Francesca Frau; Chiara Troffa; Emanuela Bulla; Stefano Bertolini; Nicola Glorioso; Marcello Arca
Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia.
Atherosclerosis 2009;207(1):162-7.
2009: Claudio Rabacchi; Alessia Wunsch; M Ghisellini; Marco Marino; Livia Pisciotta; Stefano Bertolini; Sebastiano Calandra
An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.
Clinica chimica acta; international journal of clinical chemistry 2009;406(1-2):75-80.
2009: Livia Pisciotta; Raffaele Fresa; antonella bellocchio; Elisabetta Pino; Virgilia Guido; Alfredo Cantafora; Maja Di Rocco; Sebastiano Calandra; Stefano Bertolini
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
Molecular genetics and metabolism 2009;97(2):143-8.
2009: Livia Pisciotta; Letizia Bocchi; C Candini; R Sallo; I Zanotti; Tommaso Fasano; A Chakrapani; T Bates; R Bonardi; Alfredo Cantafora; S Ball; G Watts; F Bernini; Sebastiano Calandra; Stefano Bertolini
Severe HDL deficiency due to novel defects in the ABCA1 transporter.
Journal of internal medicine 2009;265(3):359-72.
2009: Enza Di Leo; Lucia Magnolo; Elisa Pinotti; Scipione Martini; Irene Cortella; Nicola Vitturi; Claudio Rabacchi; Alessia Wunsch; Francesco Pucci; Stefano Bertolini; Sebastiano Calandra; Patrizia Tarugi
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.
Molecular genetics and metabolism 2009;96(2):66-72.
2009: Barbara Maria Colombo; Fabio Cacciapaglia; Matteo Puntoni; Giuseppe Murdaca; Edoardo Rossi; Guido Rodriguez; Flavio Nobili; Livia Pisciotta; Stefano Bertolini; Tiziano Moccetti; Francesco Dentali; Luigi Steidl; Giorgio Ciprandi; Antonella Afeltra; Francesco Indiveri; Francesco Puppo
Traditional and non traditional risk factors in accelerated atherosclerosis in systemic lupus erythematosus: role of vascular endothelial growth factor (VEGATS Study).
Autoimmunity reviews 2009;8(4):309-15.
2008: C Folli; Desideria Descalzi; Stefano Bertolini; Anna Maria Riccio; F Scordamaglia; Cinzia Gamalero; marco barbieri; Giovanni Passalacqua; Giorgio Walter Canonica
Effect of statins on fibroblasts from human nasal polyps and turbinates.
European annals of allergy and clinical immunology 2008;40(3):84-9.
2008: Livia Pisciotta; Tommaso Fasano; Laura Calabresi; antonella bellocchio; Raffaele Fresa; Claudia Borrini; Sebastiano Calandra; Stefano Bertolini
A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia.
Atherosclerosis 2008;198(1):145-51.
2008: Claudio Priore Oliva; Francesca Carubbi; F G Schaap; Stefano Bertolini; Sebastiano Calandra
Hypertriglyceridaemia and low plasma HDL in a patient with apolipoprotein A-V deficiency due to a novel mutation in the APOA5 gene.
Journal of internal medicine 2008;263(4):450-8.
2008: Aldo Pende; Caterina Grondona; Stefano Bertolini
Correlation between Progetto Cuore risk score and early cardiovascular damage in never treated subjects.
Cardiovascular ultrasound 2008;6():47.
2007: L Mannucci; O Guardamagna; Pierfrancesco Bertucci; Livia Pisciotta; Laura Liberatoscioli; Stefano Bertolini; Concetta Irace; Agostino Gnasso; Giorgio Federici; Claudio Cortese
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
European journal of clinical investigation 2007;37(12):997-1000.
2007: Patrizia Tarugi; Maurizio R Averna; Enza Di Leo; Angelo B Cefalù; Davide Noto; Lucia Magnolo; Luigi Cattin; Stefano Bertolini; Sebastiano Calandra
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
Atherosclerosis 2007;195(2):e19-27.
2007: Livia Pisciotta; Tommaso Fasano; antonella bellocchio; Letizia Bocchi; Raffaella Sallo; Raffaele Fresa; Isabella Colangeli; Alfredo Cantafora; Sebastiano Calandra; Stefano Bertolini
Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.
Atherosclerosis 2007;194(2):e116-22.
2007: Valentine Charlton-Menys; Livia Pisciotta; Paul N Durrington; Richard Neary; colin short; Laura Calabresi; Sebastiano Calandra; Stefano Bertolini
Molecular characterization of two patients with severe LCAT deficiency.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007;22(8):2379-82.
2007: Enza Di Leo; Lucia Magnolo; Sandra Lancellotti; Lory Saveria Crocè; Luca Visintin; Claudio Tiribelli; Stefano Bertolini; Sebastiano Calandra; Patrizia Tarugi
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia.
Journal of medical genetics 2007;44(3):219-24.
2006: Livia Pisciotta; Claudio Priore Oliva; GIANNI PES; Lilla Di Scala; antonella bellocchio; Raffaele Fresa; Alfredo Cantafora; Marcello Arca; Sebastiano Calandra; Stefano Bertolini
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.
Atherosclerosis 2006;188(2):398-405.
2006: Claudio Priore Oliva; Patrizia Tarugi; Sebastiano Calandra; Livia Pisciotta; antonella bellocchio; Stefano Bertolini; Ornella Guardamagna; Frank G Schaap
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia.
Atherosclerosis 2006;188(1):215-7.
2006: Livia Pisciotta; Claudio Priore Oliva; Angelo B Cefalù; Davide Noto; antonella bellocchio; Raffaele Fresa; Alfredo Cantafora; Dilip Patel; Maurizio R Averna; Patrizia Tarugi; Sebastiano Calandra; Stefano Bertolini
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
Atherosclerosis 2006;186(2):433-40.
2006: Sebastiano Calandra; Claudio Priore Oliva; Patrizia Tarugi; Stefano Bertolini
APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.
Current opinion in lipidology 2006;17(2):122-7.
2005: Maria Isabella Sirinian; Francesca Belleudi; Filomena Campagna; Mara Ceridono; Tina Garofalo; Fabiana Quagliarini; Roberto Verna; Sebastiano Calandra; Stefano Bertolini; Maurizio Sorice; Maria Rosaria Torrisi; Marcello Arca
Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes.
The Journal of biological chemistry 2005;280(46):38416-23.
2005: Livia Pisciotta; Laura Calabresi; graziana lupattelli; Donatella Siepi; Massimo R Mannarino; Elsa Moleri; antonella bellocchio; Alfredo Cantafora; Patrizia Tarugi; Sebastiano Calandra; Stefano Bertolini
Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes.
Atherosclerosis 2005;182(1):153-9.
2005: Laura Calabresi; Livia Pisciotta; Anna Costantin; Ilaria Frigerio; Ivano Eberini; paola alessandrini; Marcello Arca; Gabriele Bittolo Bon; Giuliano Boscutti; Ghil Busnach; Giovanni M Frascà; Loreto Gesualdo; Maddalena Gigante; graziana lupattelli; Anna Montali; Stefano Pizzolitto; Ivana Rabbone; Marina Rolleri; Giacomo Ruotolo; Tiziana Sampietro; Adalberto Sessa; Gaetano Vaudo; Alfredo Cantafora; Fabrizio Veglia; Sebastiano Calandra; Stefano Bertolini; Guido Franceschini
The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.
Arteriosclerosis, thrombosis, and vascular biology 2005;25(9):1972-8.
2005: Enza Di Leo; Sandra Lancellotti; Junia Y Penacchioni; Angelo B Cefalù; Maurizio R Averna; Livia Pisciotta; Stefano Bertolini; Sebastiano Calandra; Carlo Gabelli; Patrizia Tarugi
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
Atherosclerosis 2005;180(2):311-8.
2005: Livia Pisciotta; Claudio Cortese; Agostino Gnasso; Laura Liberatoscioli; Anna Pastore; Liliana Mannucci; Concetta Irace; Giorgio Federici; Stefano Bertolini
Serum homocysteine, methylenetetrahydrofolate reductase gene polymorphism and cardiovascular disease in heterozygous familial hypercholesterolemia.
Atherosclerosis 2005;179(2):333-8.
2005: Tommaso Fasano; Letizia Bocchi; Livia Pisciotta; Stefano Bertolini; Sebastiano Calandra
Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.
Journal of lipid research 2005;46(4):817-22.
2005: Claudio Priore Oliva; Livia Pisciotta; Giovanni Li Volti; Maria Paola Sambataro; Alfredo Cantafora; antonella bellocchio; Alberico L Catapano; Patrizia Tarugi; Stefano Bertolini; Sebastiano Calandra
Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia.
Arteriosclerosis, thrombosis, and vascular biology 2005;25(2):411-7.
2004: Alfredo Cantafora; Ida Blotta; Elisabetta Pino; Livia Pisciotta; Sebastiano Calandra; Stefano Bertolini
Quantitative polymerase chain reaction and microchip electrophoresis to detect major rearrangements of the low-density lipoprotein receptor gene causing familial hypercholesterolemia.
Electrophoresis 2004;25(21-22):3882-9.
2004: Sebastiano Calandra; Stefano Bertolini; GIANNI PES; Luca Deiana; Patrizia Tarugi; Livia Pisciotta; Salvatore Li Volti; Giovanni Li Volti; Carmela Maccarone
Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia.
Seminars in vascular medicine 2004;4(3):271-8.
2004: Giovanni M Frascà; Letizia Soverini; Elena Tampieri; Guido Franceschini; Laura Calabresi; Livia Pisciotta; Paola Preda; Alba Vangelista; Sergio Stefoni; Stefano Bertolini
A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2004;19(6):1622-4.
2004: Stefano Bertolini; Livia Pisciotta; Lilla Di Scala; Silvia Langheim; antonella bellocchio; Paola Masturzo; Alfredo Cantafora; Scipione Martini; Maurizio R Averna; GIANNI PES; Claudio Stefanutti; Sebastiano Calandra
Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.
Atherosclerosis 2004;174(1):57-65.
2004: Livia Pisciotta; Ian Hamilton-Craig; Patrizia Tarugi; antonella bellocchio; Tommaso Fasano; paola alessandrini; Gabriele Bittolo Bon; Donatella Siepi; Elmo Mannarino; Luigi Cattin; Maurizio R Averna; Angelo B Cefalù; Alfredo Cantafora; Sebastiano Calandra; Stefano Bertolini
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.
Atherosclerosis 2004;172(2):309-20.
2004: Sandra Lancellotti; Enza Di Leo; Junia Y Penacchioni; Fiorella Balli; Laura Viola; Stefano Bertolini; Sebastiano Calandra; Patrizia Tarugi
Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.
Biochimica et biophysica acta 2004;1688(1):61-7.
2003: Alfredo Cantàfora; Ida Blotta; Roberto Rivabene; Livia Pisciotta; Stefano Bertolini
Evaluation of RNA messengers involved in lipid trafficking of human intestinal cells by reverse-transcription polymerase chain reaction with competimer technology and microchip electrophoresis.
Electrophoresis 2003;24(21):3748-54.
2003: Livia Pisciotta; Alfredo Cantafora; Andrea Piana; Paola Masturzo; Roberto Cerone; Giuseppe Minniti; antonella bellocchio; E Reggiani; Ugo Armani; Stefano Bertolini
Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years.
Nutrition, metabolism, and cardiovascular diseases : NMCD 2003;13(4):202-10.
2003: Marina Rolleri; Nicolo Vivona; Giovanni Emmanuele; Angelo B Cefalù; Livia Pisciotta; V Guido; Davide Noto; Barbara Fiore; Carlo M Barbagallo; Alberto Notarbartolo; Salvatore Travali; Stefano Bertolini; Maurizio R Averna
Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele.
Nutrition, metabolism, and cardiovascular diseases : NMCD 2003;13(2):93-9.
2003: Livia Pisciotta; Roberto Miccoli; Alfredo Cantafora; Laura Calabresi; Patrizia Tarugi; paola alessandrini; Gabriele Bittolo Bon; Guido Franceschini; Claudio Cortese; Sebastiano Calandra; Stefano Bertolini
Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency.
Atherosclerosis 2003;167(2):335-45.
2003: Serena Altilia; Livia Pisciotta; Rita Garuti; Patrizia Tarugi; Alfredo Cantafora; Laura Calabresi; Jacopo Tagliabue; Sergio Maccari; Franco Bernini; Ilaria Zanotti; Carlo Vergani; Stefano Bertolini; Sebastiano Calandra
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene.
Journal of lipid research 2003;44(2):254-64.
2002: Livia Pisciotta; Alfredo Cantafora; Francesco De Stefano; Silvia Langheim; Sebastiano Calandra; Stefano Bertolini
A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.
Biochimica et biophysica acta 2002;1587(1):7-11.
2002: Marcello Arca; Giovanni Zuliani; Kenneth Wilund; Filomena Campagna; Renato Fellin; Stefano Bertolini; Sebastiano Calandra; Giorgio Ricci; Nicola Glorioso; Mario Maioli; Paolo Pintus; Ciriaco Carru; Fausto Cossu; Jonathan Cohen; Helen H Hobbs
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis.
Lancet 2002;359(9309):841-7.
2002: Rita Garuti; Maria Antonietta Croce; Luana Piccinini; Roberta Tiozzo; Stefano Bertolini; Sebastiano Calandra
Functional analysis of the promoter of human sterol 27-hydroxylase gene in HepG2 cells.
Gene 2002;283(1-2):133-43.
2002: Alfredo Cantafora; Stefano Bertolini; Ida Blotta; Roberto Rivabene; Livia Pisciotta; Silvia Langheim; Sebastiano Calandra
Investigation into the role of apolipoprotein B gene 8344C/T variant on plasma cholesterol levels by allele-specific PCR amplification.
Annali dell'Istituto superiore di sanità 2002;38(4):411-8.
2001: Angelo B Cefalù; Giovanni Emmanuele; Giuseppina Marino; Barbara Fiore; Rosalia Caldarella; Nicolo Vivona; Davide Noto; Carlo M Barbagallo; Salvatore Costa; MC Gueli; Stefano Bertolini; Alberto Notarbartolo; Salvatore Travali; Maurizio R Averna
Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia.
Nutrition, metabolism, and cardiovascular diseases : NMCD 2001;11(6):394-400.
2001: A Cantàfora; Ida Blotta; N Bruzzese; Sebastiano Calandra; Stefano Bertolini
Rapid sizing of microsatellite alleles by gel electrophoresis on microfabricated channels: application to the D19S394 tetranucleotide repeat for cosegregation study of familial hypercholesterolemia.
Electrophoresis 2001;22(18):4012-5.
2001: Patrizia Tarugi; Amedeo Lonardo; Carlo Gabelli; F Sala; Giorgia Ballarini; I Cortella; L Previato; Stefano Bertolini; Renzo Cordera; Sebastiano Calandra
Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.
Journal of lipid research 2001;42(10):1552-61.
2001: Angelo B Cefalù; Carlo M Barbagallo; E Sesti; Rosalia Caldarella; Francesco Polizzi; Giuseppina Marino; Davide Noto; Marina Rolleri; Salvatore Travali; G Scalisi; Alberto Notarbartolo; A Corsini; Stefano Bertolini; Maurizio R Averna
Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.
Clinical and experimental medicine 2001;1(3):151-4.
2001: Adalberto Sessa; Graziana Battini; Mietta Meroni; G Daidone; I Carnera; PL Brambilla; G Viganò; Ferdinando Giordano; Francesco Pallotti; L Torri Tarelli; Laura Calabresi; Marina Rolleri; Stefano Bertolini
Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations.
Nephron 2001;88(3):268-72.
2001: Claudio Stefanutti; Serafina Di Giacomo; Antonio Vivenzio; Vincenzo Colloridi; Giovanna Bosco; Alberto Berni; Ivana Rabbone; Franco Cerutti; Stefano Bertolini
Low-density lipoprotein apheresis in a patient aged 3.5 years.
Acta paediatrica (Oslo, Norway : 1992) 2001;90(6):694-701.
2001: Christine Kim Garcia; Kenneth R Wilund; Marcello Arca; Giovanni Zuliani; Renato Fellin; M Maioli; Sebastiano Calandra; Stefano Bertolini; F Cossu; N Grishin; Robert Barnes; Jonathan C Cohen; Helen H Hobbs
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
Science (New York, N.Y.) 2001;292(5520):1394-8.
2001: Lorenza Bellincampi; ML Simone; Corradino Motti; Claudio Cortese; Sergio Bernardini; Stefano Bertolini; Sebastiano Calandra
Identification of an alternative transcript of ABCA1 gene in different human cell types.
Biochemical and biophysical research communications 2001;283(3):590-7.
2001: Stefano Bertolini; Livia Pisciotta; Marco Seri; Roberto Cusano; Alfredo Cantafora; Laura Calabresi; Guido Franceschini; Roberto Ravazzolo; Sebastiano Calandra
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.
Atherosclerosis 2001;154(3):599-605.
2000: Patrizia Tarugi; Amedeo Lonardo; Giorgia Ballarini; L Erspamer; E Tondelli; Stefano Bertolini; Sebastiano Calandra
A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5).
Journal of hepatology 2000;33(3):361-70.
2000: Stefano Bertolini; Alfredo Cantafora; Maurizio R Averna; Claudio Cortese; Corradino Motti; S Martini; GIANNI PES; A Postiglione; Claudio Stefanutti; Ida Blotta; Livia Pisciotta; Marina Rolleri; Silvia Langheim; M Ghisellini; Ivana Rabbone; Sebastiano Calandra
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
Arteriosclerosis, thrombosis, and vascular biology 2000;20(9):E41-52.
2000: Stefano Bertolini; ML Simone; GIANNI PES; M Ghisellini; Marina Rolleri; antonella bellocchio; N Elicio; Paola Masturzo; Sebastiano Calandra
Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)).
Clinical genetics 2000;57(2):140-7.
2000: Alfredo Cantafora; Ida Blotta; E Mercuri; Claudio Cortese; Corradino Motti; P Rampa; Sebastiano Calandra; Stefano Bertolini
Characterization and screening of a point mutation in LDL receptor gene found in southern Italy (FHAvellino).
Annali dell'Istituto superiore di sanità 2000;36(4):459-64.
2000: Luca Deiana; Rita Garuti; GIANNI PES; Ciriaco Carru; Alessandra Errigo; Marina Rolleri; Livia Pisciotta; Paola Masturzo; Alfredo Cantafora; Sebastiano Calandra; Stefano Bertolini
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.
Arteriosclerosis, thrombosis, and vascular biology 2000;20(1):236-43.
1999: Mathilde Varret; Jean-Pierre Rabès; B Saint-Jore; Ana Cenarro; J C Marinoni; Fernando Civeira; Martine Devillers; Michel Krempf; M Coulon; Rochelle Thiart; Maritha J Kotze; H Schmidt; J C Buzzi; Gerhard Kostner; Stefano Bertolini; Miguel Pocovi; A Rosa; Michel Farnier; M Martinez; Claudine Junien; catherine boileau
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
American journal of human genetics 1999;64(5):1378-87.
1999: Stefano Bertolini; S Cassanelli; Rita Garuti; M Ghisellini; ML Simone; Marina Rolleri; Paola Masturzo; Sebastiano Calandra
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology 1999;19(2):408-18.
1999: Alfredo Cantafora; Stefano Bertolini; Sebastiano Calandra
[Familial hypercholesterolemia and mutations of the gene for low-density lipoproteins in Italy].
Annali dell'Istituto superiore di sanità 1999;35(2):177-84.
1999: Giuseppina Marino; Salvatore Travali; T Reyes; B R Wallace; Rosalia Caldarella; S Travali; Giovanni Emmanuele; Franca Stivala; Carlo M Barbagallo; Alfredo Cantafora; Stefano Bertolini; Alberto Notarbartolo; Maurizio R Averna
Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo. Mutation in brief no. 238. Online.
Human mutation 1999;13(5):412.
1998: Dilipkumar D Patel; N Lelli; Rita Garuti; Salvatore Li Volti; Stefano Bertolini; Brian L Knight; Sebastiano Calandra
Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor.
Journal of lipid research 1998;39(7):1466-75.
1998: S Cassanelli; Stefano Bertolini; Marina Rolleri; Francesco De Stefano; Lucia Casarino; N Elicio; A Naselli; Sebastiano Calandra
A 'de novo' point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia.
Clinical genetics 1998;53(5):391-5.
1998: Alfredo Cantafora; Ida Blotta; E Mercuri; Sebastiano Calandra; Stefano Bertolini
Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction.
Journal of lipid research 1998;39(5):1101-5.
1998: B Guazzini; D Gaffi; D Mainieri; G Multari; Renzo Cordera; Stefano Bertolini; Guido Pozza; Franco Meschi; Fabrizio Barbetti
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.
Human mutation 1998;12(2):136.
1998: Corradino Motti; Stefano Bertolini; P Rampa; G Trovatello; Laura Liberatoscioli; Sebastiano Calandra; Giorgio Federici; Claudio Cortese
Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online.
Human mutation 1998;12(3):290.
1997: Rita Garuti; Maria Antonietta Croce; Roberta Tiozzo; Maria Teresa Dotti; Antonio Federico; Stefano Bertolini; Sebastiano Calandra
Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.
Journal of lipid research 1997;38(11):2322-34.
1997: Claudio Stefanutti; A Notarbartolo; Vincenzo Colloridi; Antonio Nigri; Antonio Vivenzio; Stefano Bertolini; Giovanna Bosco; Alberto Berni; Serafina Di Giacomo; B Mazzarella
LDL apheresis in a homozygous familial hypercholesterolemic child aged 4.5.
Artificial organs 1997;21(10):1126-7.
1997: Stefano Bertolini; Gabriele Bittolo Bon; L M Campbell; Michel Farnier; J Langan; G Mahla; P Pauciullo; C Sirtori; F Egros; R Fayyad; JW Nawrocki
Efficacy and safety of atorvastatin compared to pravastatin in patients with hypercholesterolemia.
Atherosclerosis 1997;130(1-2):191-7.
1997: N Elicio; Stefano Bertolini; R Garbarini; G Nardiello; A Elicio; V Aimale
LDL apheresis with dextran sulfate and angiotension receptor antagonist (Losartan).
Artificial organs 1997;21(4):334-5.
1996: Bruno Seriolo; S Accardo; Daniela Fasciolo; Stefano Bertolini; Maurizio Cutolo
Lipoproteins, anticardiolipin antibodies and thrombotic events in rheumatoid arthritis.
Clinical and experimental rheumatology 1996;14(6):593-9.
1996: Rita Garuti; N Lelli; M Barozzini; Roberta Tiozzo; M T Dotti; A Federico; A M Ottomano; A Croce; Stefano Bertolini; Sebastiano Calandra
Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.
Journal of lipid research 1996;37(7):1459-67.
1996: Rita Garuti; N Lelli; M Barozzini; M T Dotti; A Federico; Stefano Bertolini; Sebastiano Calandra
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.
Journal of lipid research 1996;37(3):662-72.
1996: Rita Garuti; N Lelli; M Barozzini; Roberta Tiozzo; M Ghisellini; M L Simone; S Li Volti; R Garozzo; F Mollica; W Vergoni; Stefano Bertolini; Sebastiano Calandra
Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).
Atherosclerosis 1996;121(1):105-17.
1995: Claudio Brunelli; Paolo Spallarossa; Stefano Bertolini; M Balbi; C Barbara; P Masturzo; Pasquale B Lantieri; C Pastorini; S Caponnetto
Lipoprotein (a) is increased in acute coronary syndromes (unstable angina pectoris and myocardial infarction), but it is not predictive of the severity of coronary lesions.
Clinical cardiology 1995;18(9):526-9.
1995: Bruno Seriolo; S Accardo; Daniela Fasciolo; Alberto Sulli; Stefano Bertolini; Maurizio Cutolo
Lipoprotein (a) and anticardiolipin antibodies as risk factors for vascular disease in rheumatoid arthritis.
Thrombosis and haemostasis 1995;74(2):799-800.
1995: Antonino Picciotto; Stefano Bertolini; E Bardellini; Paolo Borro; S Borzone; P Masturzo; M Pireddu; N Sinelli; G Celle
Serum lipid levels during interferon therapy in patients with chronic hepatitis C.
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research 1995;15(8):703-4.
1995: N Lelli; Rita Garuti; M Ghisellini; Roberta Tiozzo; Marina Rolleri; V Aimale; E Ginocchio; A Naselli; Stefano Bertolini; Sebastiano Calandra
Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).
Journal of lipid research 1995;36(6):1315-24.
1995: Bruno Seriolo; Daniela Fasciolo; S Accardo; Stefano Bertolini; G Gianfranceschi; Laura Calabresi; G Franceschini; Maurizio Cutolo
Lipid profile and anticardiolipin antibodies in rheumatoid arthritis.
Clinical and experimental rheumatology 1995;13(3):406-7.
1995: Stefano Bertolini; Rita Garuti; W Lelli; Marina Rolleri; Roberta Tiozzo; M Ghisellini; M L Simone; P Masturzo; N C Elicio; Claudio Stefanutti
Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology 1995;15(1):81-8.
1995: F Fiorini; P Masturzo; M Mij; Stefano Bertolini
Lipoprotein(a) levels in hemodialysis patients: relation to glucose intolerance and hemodialysis duration.
Nephron 1995;70(4):500-1.
1994: C Laurino; Stefano Bertolini; Renzo Cordera
Linkage analysis does not support a role for glucokinase gene in the aetiology of type 2 diabetes mellitus among north western Italians.
Molecular and cellular endocrinology 1994;104(2):147-51.
1994: Stefano Bertolini; Dilipkumar D Patel; D A Coviello; N Lelli; M Ghisellini; Roberta Tiozzo; P Masturzo; N Elicio; Brian L Knight; Sebastiano Calandra
Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno).
Journal of lipid research 1994;35(8):1422-30.
1994: N Lelli; Rita Garuti; P Pedrazzi; M Ghisellini; M L Simone; Roberta Tiozzo; Luigi Cattin; M Valenti; Marina Rolleri; Stefano Bertolini
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).
Human genetics 1994;93(5):538-40.
1994: Guido Rodriguez; Stefano Bertolini; Flavio Nobili; A Arrigo; P Masturzo; N Elicio; M Gambaro; G Rosadini
Regional cerebral blood flow in familial hypercholesterolemia.
Stroke; a journal of cerebral circulation 1994;25(4):831-6.
1993: D A Coviello; Stefano Bertolini; P Masturzo; M Ghisellini; Roberta Tiozzo; F Zambelli; Claudio Stefanutti; F Torcia; A Pachi; G Ricci
Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia.
Human genetics 1993;92(4):424-6.
1993: N Lelli; Rita Garuti; F Zambelli; S Cassanelli; Roberta Tiozzo; A Corsini; Stefano Bertolini; Enrica Riva; M T Ortisi; bellù roberto
Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza).
Journal of lipid research 1993;34(8):1347-54.
1992: Stefano Bertolini; N Lelli; D A Coviello; M Ghisellini; P Masturzo; Roberta Tiozzo; N Elicio; Antonio Gaddi; Sebastiano Calandra
A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia).
American journal of human genetics 1992;51(1):123-34.
1992: Stefano Bertolini; D A Coviello; P Masturzo; E Zucchetto; N Elicio; R Balestreri; G Orecchini; Sebastiano Calandra; S Humphries
RFLPs of the LDL-receptor gene: their use in the diagnosis of FH and in evaluation of different levels of gene expression on normal subjects.
European journal of epidemiology 1992;8 Suppl 1():18-25.
1991: S Humphries; D A Coviello; P Masturzo; R Balestreri; G Orecchini; Stefano Bertolini
Variation in the low density lipoprotein receptor gene is associated with differences in plasma low density lipoprotein cholesterol levels in young and old normal individuals from Italy.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1991;11(3):509-16.
1991: N Lelli; M Ghisellini; Sebastiano Calandra; Antonio Gaddi; A Ciarrocchi; D A Coviello; Stefano Bertolini
Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia.
Human genetics 1991;86(4):359-62.
1990: Antonio Daga; T Mattioni; R Balestreri; D A Coviello; Giorgio Corte; Stefano Bertolini
Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia.
Human genetics 1990;84(5):412-6.
1989: Pier Luigi Venturini; Stefano Bertolini; M C Brunenghi; Antonio Daga; V Fasce; A Marcenaro; M Cimato; L De Cecco
Endocrine, metabolic, and clinical effects of gestrinone in women with endometriosis.
Fertility and sterility 1989;52(4):589-95.
1988: Gianfilippo Bertelli; Paolo Pronzato; Domenico Amoroso; M P Cusimano; Pier Franco Conte; G Montagna; Stefano Bertolini; R Rosso
Adjuvant tamoxifen in primary breast cancer: influence on plasma lipids and antithrombin III levels.
Breast cancer research and treatment 1988;12(3):307-10.
1988: Antonio Daga; Marina Fabbi; T Mattioni; Stefano Bertolini; Giorgio Corte
Pvu II polymorphism of low density lipoprotein receptor gene and familial hypercholesterolemia. Study of Italians.
Arteriosclerosis (Dallas, Tex.) 1988;8(6):845-50.
1988: Roberto Gherzi; C Caratti; G Andraghetti; Stefano Bertolini; A Montemurro; Giorgio Sesti; Renzo Cordera
Direct modulation of insulin receptor protein tyrosine kinase by vanadate and anti-insulin receptor monoclonal antibodies.
Biochemical and biophysical research communications 1988;152(3):1474-80.
1988: Stefano Bertolini; N Elicio; Antonio Daga; M L Degl'Innocenti; R Balestreri; M G Fusi; A M Cotta Ramusino; A Carozzi
Effect of a single daily dose treatment of fenofibrate on plasma lipoproteins in hyperlipoproteinaemia IIb.
European journal of clinical pharmacology 1988;34(1):25-8.
1987: Stefano Bertolini; N Elicio; Renzo Cordera; G L Gapitanio; G Montagna; S Croce; M Saturnino; R Balestreri; L De Cecco
Effects of three low-dose oral contraceptive formulations on lipid metabolism.
Acta obstetricia et gynecologica Scandinavica 1987;66(4):327-32.
1986: Stefano Bertolini; C Donati; N Elicio; Antonio Daga; S Cuzzolaro; A Marcenaro; M Saturnino; R Balestreri
Lipoprotein changes induced by pantethine in hyperlipoproteinemic patients: adults and children.
International journal of clinical pharmacology, therapy, and toxicology 1986;24(11):630-7.
1985: Renzo Cordera; Stefano Bertolini; G Andraghetti; G Pistocchi; M de Alessi; Roberto Gherzi
Insulin receptor binding on red cells of hypertriglyceridemic patients. Effect of a low fat, low carbohydrate diet.
Diabète & métabolisme 1985;11(3):137-40.
1982: G Barban; D Montanari; Stefano Bertolini; E Reggiani; G Chiodini; N Elicio; G E Jacopino; R Balestreri
[Evaluation of the accuracy of precipitation methods for HDL cholesterol determination].
Bollettino della Società italiana di biologia sperimentale 1982;58(3-4):99-105.
1982: Stefano Bertolini; E Reggiani; R Balestreri; G Chiodini; N Elicio; G Barban; D Montanari; P Pronzato; A Marcenaro
[Influence of alcohol intake and smoking on plasma HDL cholesterol in active and sedentary subjects].
Bollettino della Società italiana di biologia sperimentale 1982;58(1-2):45-9.
1982: E Reggiani; R Balestreri; Stefano Bertolini; D Montanari; G Barban; M Donetti; G Chiodini
[Relationships between programmed physical activity and risk factors in atherosclerosis].
Bollettino della Società italiana di biologia sperimentale 1982;58(1-2):40-4.