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Sebastiano Calandra

Showing results (11-20 of 88) with videos related to

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Annals of Neurology|June 5, 2003
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancyCallum J Wilson, Claudio Priore Oliva, Franco Maggi, et al.
Biochimica Et Biophysica Acta|May 16, 2002
A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemiaLivia Pisciotta, Alfredo Cantafora, Francesco De Stefano, et al.
Atherosclerosis|September 25, 2020
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular featuresStefano Bertolini, Sebastiano Calandra, Marcello Arca, et al.
Human Mutation|October 2, 2004
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 diseaseEnza Di Leo, Francesca Panico, Patrizia Tarugi, et al.
Gene|February 28, 2002
Functional analysis of the promoter of human sterol 27-hydroxylase gene in HepG2 cellsRita Garuti, Maria Antonietta Croce, Luana Piccinini, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 28, 2009
A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter regionMarco Marino, Claudio Rabacchi, Maria Luisa Simone, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 27, 2009
An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemiaClaudio Rabacchi, Alessia Wunsch, Margherita Ghisellini, et al.
Journal of Clinical Lipidology|September 1, 2016
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 geneClaudio Rabacchi, Sergio D'Addato, Silvia Palmisano, et al.
Annali Dell'Istituto Superiore Di Sanita|May 23, 2003
Investigation into the role of apolipoprotein B gene 8344C/T variant on plasma cholesterol levels by allele-specific PCR amplificationAlfredo Cantafora, Stefano Bertolini, Ida Blotta, et al.
Journal of Lipid Research|August 25, 2011
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskSebastiano Calandra, Patrizia Tarugi, Helen E Speedy, et al.
Pageof 9

Showing results (11-20 of 88) with videos related to

Sort By:
Pageof 9
Annals of Neurology|June 5, 2003
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancyCallum J Wilson, Claudio Priore Oliva, Franco Maggi, et al.
Biochimica Et Biophysica Acta|May 16, 2002
A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemiaLivia Pisciotta, Alfredo Cantafora, Francesco De Stefano, et al.
Atherosclerosis|September 25, 2020
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular featuresStefano Bertolini, Sebastiano Calandra, Marcello Arca, et al.
Human Mutation|October 2, 2004
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 diseaseEnza Di Leo, Francesca Panico, Patrizia Tarugi, et al.
Gene|February 28, 2002
Functional analysis of the promoter of human sterol 27-hydroxylase gene in HepG2 cellsRita Garuti, Maria Antonietta Croce, Luana Piccinini, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 28, 2009
A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter regionMarco Marino, Claudio Rabacchi, Maria Luisa Simone, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 27, 2009
An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemiaClaudio Rabacchi, Alessia Wunsch, Margherita Ghisellini, et al.
Journal of Clinical Lipidology|September 1, 2016
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 geneClaudio Rabacchi, Sergio D'Addato, Silvia Palmisano, et al.
Annali Dell'Istituto Superiore Di Sanita|May 23, 2003
Investigation into the role of apolipoprotein B gene 8344C/T variant on plasma cholesterol levels by allele-specific PCR amplificationAlfredo Cantafora, Stefano Bertolini, Ida Blotta, et al.
Journal of Lipid Research|August 25, 2011
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskSebastiano Calandra, Patrizia Tarugi, Helen E Speedy, et al.
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