FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Sebastiano Calandra

Research Profile

Chemicals & Drugs

Physiology

Disorders

Geographic Areas

Italy

Concepts & Ideas

Co-author Network

Publications

TOP 3
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.
Lucia Magnolo; Mohamed Najah; Elisa Pinotti; Naceur M Slimene; Ines Brini; Sebastiano Calandra; Enza Di Leo; Tatiana Fancello; Neji M Gueddiche; Patrizia Tarugi
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
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.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Sebastiano Calandra (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

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: Lucia Magnolo; Mohamed Najah; Elisa Pinotti; Naceur M Slimene; Ines Brini; Sebastiano Calandra; Enza Di Leo; Tatiana Fancello; Neji M Gueddiche; Patrizia Tarugi
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
Gene 2013;512(1):28-34.
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: C Candini; A W Schimmel; J Peter; A E Bochem; A G Holleboom; M Vergeer; R P F Dullaart; Geesje M Dallinga-Thie; G Kees Hovingh; K L Khoo; Tommaso Fasano; Letizia Bocchi; Sebastiano Calandra; Jan Albert Kuivenhoven; Mohammad Mahdi Motazacker
Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol.
Atherosclerosis 2010;213(2):492-8.
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: Laura Calabresi; Damiano Baldassarre; Samuela Castelnuovo; Paola Conca; Letizia Bocchi; Chiara Candini; Beatrice Frigerio; Mauro Amato; Cesare R Sirtori; paola alessandrini; Marcello Arca; Giuliano Boscutti; Luigi Cattin; Loreto Gesualdo; Tiziana Sampietro; Gaetano Vaudo; Fabrizio Veglia; Sebastiano Calandra; Guido Franceschini
Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans.
Circulation 2009;120(7):628-35.
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: Laura Calabresi; Peter Nilsson; Elisa Pinotti; Monica Gomaraschi; Elda Favari; Maria Pia Adorni; Franco Bernini; Cesare R Sirtori; Sebastiano Calandra; Guido Franceschini; Patrizia Tarugi
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred.
Atherosclerosis 2009;205(2):506-11.
2009: Tatiana Fancello; Andrea Dardis; Camillo Rosano; Patrizia Tarugi; Barbara Tappino; Stefania Zampieri; Elisa Pinotti; Fabio Corsolini; Simona Fecarotta; Adele D'Amico; Maja Di Rocco; Graziella Uziel; Sebastiano Calandra; Bruno Bembi; Mirella Filocamo
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
Neurogenetics 2009;10(3):229-39.
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: Marco Marino; Claudio Rabacchi; Maria Luisa Simone; Veronica Medici; Laura Cortesi; Sebastiano Calandra
A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region.
Clinica chimica acta; international journal of clinical chemistry 2009;403(1-2):249-53.
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.
2008: Enza Di Leo; L Magnolo; Marco Bertolotti; M Bourbon; S Carmo Pereira; M Pirisi; Sebastiano Calandra; Patrizia Tarugi
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations.
Clinical genetics 2008;74(3):267-73.
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.
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: Lorenzo Iughetti; Barbara Predieri; Fiorella Balli; Sebastiano Calandra
Rational approach to the treatment for heterozygous familial hypercholesterolemia in childhood and adolescence: a review.
Journal of endocrinological investigation 2007;30(8):700-19.
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: Silvia Palmeri; Patrizia Tarugi; Francesco Sicurelli; Rosaria Buccoliero; Alessandro Malandrini; Maria Margherita De Santi; G Marcianò; Carla Battisti; Maria Teresa Dotti; Sebastiano Calandra; Antonio Federico
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2005;26(3):171-3.
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: 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: Enza Di Leo; Francesca Panico; Patrizia Tarugi; Carla Battisti; Antonio Federico; Sebastiano Calandra
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
Human mutation 2004;24(5):440.
2004: Attila Szanto; Szilvia Benko; Istvan Szatmari; Balint Balint; Ibolya Furtos; Ralph Rühl; Sandor Molnar; László Csiba; Rita Garuti; Sebastiano Calandra; Hanna Larsson; Ulf Diczfalusy; Laszlo Nagy
Transcriptional regulation of human CYP27 integrates retinoid, peroxisome proliferator-activated receptor, and liver X receptor signaling in macrophages.
Molecular and cellular biology 2004;24(18):8154-66.
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: P Valdivielso; Sebastiano Calandra; J C Durán; Rita Garuti; E Herrera; P González
Coronary heart disease in a patient with cerebrotendinous xanthomatosis.
Journal of internal medicine 2004;255(6):680-3.
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: Carla Battisti; Patrizia Tarugi; Maria Teresa Dotti; Nicola de Stefano; Angelo Vattimo; Francesea Chierichetti; Sebastiano Calandra; Antonio Federico
Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.
Movement disorders : official journal of the Movement Disorder Society 2003;18(11):1405-9.
2003: Callum J Wilson; Claudio Priore Oliva; Franco Maggi; Alberico L Catapano; Sebastiano Calandra
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy.
Annals of neurology 2003;53(6):807-10.
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: Patrizia Tarugi; Giorgia Ballarini; Bruno Bembi; Carla Battisti; Silvia Palmeri; Francesca Panzani; Enza Di Leo; Cristina Martini; Antonio Federico; Sebastiano Calandra
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
Journal of lipid research 2002;43(11):1908-19.
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: Stefania Lamon-Fava; Ernst Schaefer; Rita Garuti; G Salen; Sebastiano Calandra
Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.
Clinical genetics 2002;61(3):185-91.
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: 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: 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: Maria Teresa Dotti; Antonio Federico; Rita Garuti; Sebastiano Calandra
Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
Movement disorders : official journal of the Movement Disorder Society 2000;15(5):1017-9.
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: Sebastiano Calandra; S Bertolinio
Unusual inheritance of severe primary hypercholesterolemia.
Atherosclerosis 1999;144(2):464-6.
1999: Flavia Parise; L Simone; Maria Antonietta Croce; M Ghisellini; Renata Battini; S Borghi; Roberta Tiozzo; Sergio Ferrari; Sebastiano Calandra; S Ferrari; S Calandra; S Ferrari
Construction and in vitro functional evaluation of a low-density lipoprotein receptor/transferrin fusion protein as a therapeutic tool for familial hypercholesterolemia.
Human gene therapy 1999;10(7):1219-28.
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.
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: Patrizia Tarugi; Giorgia Ballarini; B Pinotti; A Franchini; E Ottaviani; Sebastiano Calandra
Secretion of apoB- and apoA-I-containing lipoproteins by chick kidney.
Journal of lipid research 1998;39(4):731-43.
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: Roberta Tiozzo; D Reggiani; Maria Antonietta Croce; Sebastiano Calandra; B Osima; P Bianchini
Effect of heparin on cell proliferation: lack of correlation with heparin binding sites on cell membrane.
Drugs under experimental and clinical research 1997;23(3-4):103-9.
1996: Patrizia Tarugi; Amedeo Lonardo; Giorgia Ballarini; Alberto Grisendi; M Pulvirenti; Alberto Bagni; Sebastiano Calandra
Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B.
Gastroenterology 1996;111(4):1125-33.
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: Patrizia Tarugi; S Nicolini; Giorgia Ballarini; L Marchi; C Duvigneau; P Tartoni; Sebastiano Calandra
Synthesis and secretion of B-100 and A-I apolipoproteins in response to the changes of intracellular cholesteryl ester content in chick liver.
Journal of lipid research 1996;37(3):493-507.
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: 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.
1994: Patrizia Tarugi; S Nicolini; L Marchi; Giorgia Ballarini; Sebastiano Calandra
Apolipoprotein B-100 production and cholesteryl ester content in the liver of developing chick.
Journal of lipid research 1994;35(11):2019-31.
1994: Patrizia Tarugi; S Nicolini; L Albertazzi; L Marchi; Sebastiano Calandra; Patricia Salvati
The effect of a thromboxane A2 synthase inhibitor on the dyslipoproteinemia of an inbred rat strain with spontaneous age-related nephrotic syndrome.
Aging (Milan, Italy) 1994;6(5):381-90.
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.
1993: Sebastiano Calandra; Patrizia Tarugi
Synthesis and secretion of apolipoprotein A-I.
Biochemical Society transactions 1993;21(2):493-9.
1993: Roberta Tiozzo; M R Cingi; D Reggiani; T Andreoli; Sebastiano Calandra; M R Milani; S Piani; E Marchi; Miriam Barbanti
Effect of the desulfation of heparin on its anticoagulant and anti-proliferative activity.
Thrombosis research 1993;70(1):99-106.
1992: Ernesto Damiani; Patrizia Tarugi; Sebastiano Calandra; Alfredo Margreth
Sequential expression during postnatal development of specific markers of junctional and free sarcoplasmic reticulum in chicken pectoralis muscle.
Developmental biology 1992;153(1):102-14.
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: Patrizia Tarugi; S Nicolini; L Albertazzi; Sebastiano Calandra; Patricia Salvati; C Ferti; C Patrono
Dyslipoproteinemia in an inbred rat strain with spontaneous chronic progressive nephrotic syndrome.
Journal of lipid research 1991;32(10):1675-87.
1991: Antonio Gaddi; M Arca; A Ciarrocchi; S Fazio; G D'Alò; Roberta Tiozzo; G C Descovich; Sebastiano Calandra
Pravastatin in heterozygous familial hypercholesterolemia: low-density lipoprotein (LDL) cholesterol-lowering effect and LDL receptor activity on skin fibroblastS.
Metabolism: clinical and experimental 1991;40(10):1074-8.
1991: Sebastiano Calandra; Patrizia Tarugi
Influence of age-related nephropathy on plasma lipoproteins of the aging rat.
Aging (Milan, Italy) 1991;3(3):211-8.
1991: Roberta Tiozzo; D Reggiani; M R Cingi; P Bianchini; B Osima; Sebastiano Calandra
Effect of heparin derived fractions on the proliferation and protein synthesis of cells in culture.
Thrombosis research 1991;62(3):177-88.
1991: Patrizia Tarugi; L Albertazzi; S Nicolini; E Ottaviani; Sebastiano Calandra
Synthesis and secretion of apolipoprotein A-I by chick skin.
The Journal of biological chemistry 1991;266(12):7714-20.
1991: N Lelli; M Ghisellini; R Gualdi; Roberta Tiozzo; Sebastiano Calandra; Antonio Gaddi; A Ciarrocchi; M Arca; S Fazio; D A Coviello
Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1991;11(2):234-43.
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: Patrizia Tarugi; L Albertazzi; S Nicolini; Sebastiano Calandra
Absence of apolipoprotein B-48 in the chick, Gallus domesticus.
Journal of lipid research 1990;31(3):417-27.
1989: Roberta Tiozzo; M R Cingi; Antonello Pietrangelo; L Albertazzi; Sebastiano Calandra; M R Milani
Effect of heparin-like compounds on the in vitro proliferation and protein synthesis of various cell types.
Arzneimittel-Forschung 1989;39(1):15-20.
1989: Patrizia Tarugi; D Reggiani; E Ottaviani; S Ferrari; Roberta Tiozzo; Sebastiano Calandra
Plasma lipoproteins, tissue cholesterol overload, and skeletal muscle apolipoprotein A-I synthesis in the developing chick.
Journal of lipid research 1989;30(1):9-22.
1988: Antonello Pietrangelo; Roberta Tiozzo; M Ghisellini; M R Cingi; L Albertazzi; E Ventura; Sebastiano Calandra
Modulation of the synthesis of apolipoproteins in rat hepatoma cells.
Journal of hepatology 1988;7(2):258-68.
1987: Sergio Ferrari; Patrizia Tarugi; E Drusiani; Sebastiano Calandra; M Fregni
The complete sequence of chick apolipoprotein AI mRNA and its expression in the developing chick.
Gene 1987;60(1):39-46.
1986: Patrizia Tarugi; Sebastiano Calandra; L Chan
Changes in apolipoprotein A-I mRNA level in the liver of rats with experimental nephrotic syndrome.
Biochimica et biophysica acta 1986;868(1):51-61.
1986: M Ghisellini; M Pecorari; Sebastiano Calandra
Changes of the main isoform of human apolipoprotein A-I following incubation of plasma.
Atherosclerosis 1986;59(3):247-56.
1986: Sebastiano Calandra; Patrizia Tarugi
Hepatic synthesis of apolipoprotein AI in rats with nephrotic syndrome. Changes in hepatic mRNA for ApoAI.
Monographs on atherosclerosis 1986;14():132-4.
1986: Sergio Ferrari; E Drusiani; Sebastiano Calandra; Patrizia Tarugi
Isolation of a cDNA clone for chick intestinal apolipoprotein AI (Apo-AI) and its use for detecting apo-AI mRNA expression in several chick tissues.
Gene 1986;42(2):209-14.
1985: Patrizia Tarugi; M Ghisellini; M Pecorari; N Brugni; Sebastiano Calandra
Isoforms of rat apolipoprotein A-I isolated from the lipoproteins of hepatic Golgi apparatus and plasma.
Atherosclerosis 1985;56(2):189-98.
1984: Sebastiano Calandra; Patrizia Tarugi; M Ghisellini
Separation of the isoprotein forms of apoprotein A-I of rat, rabbit and human HDL by combined isoelectrofocusing and SDS-polyacrylamide gel electrophoresis.
Atherosclerosis 1984;50(2):209-21.
1983: Sebastiano Calandra; Patrizia Tarugi; M Ghisellini; E Gherardi
Plasma and urine lipoproteins during the development of nephrotic syndrome induced in the rat by adriamycin.
Experimental and molecular pathology 1983;39(3):282-99.
1983: Sebastiano Calandra; E Gottardi; Patrizia Tarugi
Plasma post-heparin lipolytic activity in rats with nephrotic syndrome.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 1983;15(7):361.
1982: Patrizia Tarugi; Sebastiano Calandra; Paola Borella; Gianfranco Vivoli
Heavy metals and experimental atherosclerosis. Effect of lead intoxication on rabbit plasma lipoproteins.
Atherosclerosis 1982;45(2):221-34.