IRIS
BERTOLINI, STEFANO
 Distribuzione geografica
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Continente #
EU - Europa 13.675
Totale 13.675
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Nazione #
IT - Italia 13.675
Totale 13.675
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Città #
Genova 10.644
Rapallo 1.153
Genoa 955
Vado Ligure 910
Bordighera 13
Totale 13.675
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Nome #
Lipoproteins, stroke and statins. 185
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia 160
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene. 141
A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla) 140
Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. 139
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia 138
A study of fatty liver disease and plasma lipoproteins in a kindred with Familial Hypobeta-lipoproteinemia due to a novel truncated form of apolipoprotein B (Apo B 54.5). 135
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. 134
Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients. 134
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. 133
Use of three DNA polymorphisms of the LDL-receptor gene in the diagnosis of Familial Hypercholesterolemia. 132
Duplication of exons 13, 14 and 15 of LDL-receptor gene in a patient with heterozygous Familial Hypercholesterolemia. 131
Identification of an alternative transcript of ABCA1 gene in different human cell types. 131
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 128
Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations. 126
An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia. 125
HEMORHEOLOGICAL AND CEREBRAL BLOOD FLOW CHANGES INDUCED BY LDL- APHERESIS IN FAMILIAL HYPERCHOLESTEROLEMIC PATIENTS. 123
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease 122
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. 122
A Third Major Locus for Autosomal Dominant Hypercholesterolemia maps at 1p34.1-p32. 122
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia 121
Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia 121
Four novel partial deletions of LDL receptor gene in Italian patients with Familial Hypercholesterolemia 121
Correlation between Progetto Cuore risk score and early cardiovascular damage in never treated subjects 120
Analysis of LDL receptor gene mutations in Italian patients with homozygous Familial Hypercholesterolemia 120
Cerebrotendinous xanthomatosis caused by two new mutations of sterol-27-hydroxylase gene that disrupt mRNA splicing. 120
Serum lipoprotein (a) predicts acute coronary syndromes in patients with severe carotid stenosis 119
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene 118
Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs) 117
A “de novo” mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia. 116
Quantitative polymerase chain reaction and microchip electrophoresis to detect major rearrangements of the low-density lipoprotein receptor gene causing familial hypercholesterolemia. 116
A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia 116
Baseline hs-CRP predicts hypertension remission in metabolic syndrome 116
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia 116
Gene polymorphisms predicting high plasma levels of coagulation and fibrinolysis proteins: a study in centenarians. 115
Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia. 115
Pvu II polymorphism of low density lipoprotein receptor gene and familial hypercholesterolemia. Study of Italians. 114
Serum homocysteine, methylenetetrahydrofolate reductase gene polymorphism and cardiovascular disease in heterozygous familial hypercholesterolemia. 114
Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors 114
Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e. 113
Severe HDL deficiency due to novel defects in the ABCA1 transporter. 113
Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes 113
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste). 113
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 113
Regional cerebral blood flow in familial hypercholesterolemia 113
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study 113
Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients. 112
Polymorphisms of Drug-Metabolizing Enzymes in healthy Nonagenarians and Centenarians: difference at GSTT1 locus. 112
A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment. 112
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 112
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia. 112
A silent mutation of Niemann-Pick C1-like 1 and apolipoprotein E4 modulate cholesterol absorption in primary hyperlipidemias. 111
LDL apheresis in a homozygous familial hypercholesterolemic child aged 4.5. 111
Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians. 110
Two Italian Kindreds Carrying the Arg136>Ser Mutation of Apo E Gene: Development of Premature and Severe Atherosclerosis in the presence of Epsilon 2 as Second Allele 110
A ‘de novo’ point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia 110
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels and sterol elimination: implications for classification and disease risk 110
Effects of a phytosterol-enriched dairy product on lipids, sterols and 8-isoprostane in hypercholesterolemic patients: a multicenter Italian study. 109
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL Receptor Adaptor Protein. 109
A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene 107
Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years. 106
Molecular characterization of two patients with severe LCAT deficiency. 106
Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency. 106
Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations. 106
Traditional and non traditional risk factors in accelerated atherosclerosis in systemic lupus erythematosus: role of vascular endothelial growth factor (VEGATS Study). 106
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency 105
Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor. 105
Blood and synovial levels of piroxicam and their effects on some metabolites of arachidonic acid 104
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis. 102
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. 101
Altered mRNA splicing in lipoprotein disorders. 101
DNA multiallelic systems reveal gene/longevity associations not detected by diallelic systems. The APOB locus. 101
Mutant factor V (Arg506Gln) in healthy centenarians. 100
Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing Familial Hypercholesterolemia (FH Salerno) 100
Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolemia. 99
Functional analysis of the promoter of human sterol 27-hydroxylase gene in HepG2 cells. 99
Hypobetalipoproteinemia with an apparently recessive inheritance due to a “de novo” mutation of apolipoprotein B. 99
Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2). 98
Occurrence of multiple aberrantly spliced mRNAs of LDL-receptor Gene upon a donor splice site mutation that causes Familial Hypercholesterolemia (FH-Benevento). 98
p53 variants predisposing to cancer are present in healthy centenarians. 97
Characterization of three mutations of LDL-receptor gene in Italians patients with Familial Hypercholesterolemia. 97
Denaturing high-performance liquid chromatography (DHPLC) in the detection of mutations of ABCA1 gene in Familial HDL Deficiency. 96
Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia. 96
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. 95
Effects of three low-dose oral contraceptive formulations on lipid metabolism. 95
Nutraceutical pill containing berberine versus ezetimibe on plasma lipid pattern in hypercholesterolemic subjects and its additive effect in patients with familial hypercholesterolemia on stable cholesterol-lowering treatment. 95
Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion. 95
Four novel mutations of sterol-27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis. 94
Presence of soluble amyloid beta peptide precedes amyloid plaque formation in Down's syndrome 94
Pharmacological treatment of a Sardinian patient affected by autosomal recessive hypercholesterolemia (ARH) 94
Low-density lipoprotein apheresis in a patient aged 3.5 years. 94
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). 93
Partial deletion of the gene encoding the enzyme sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis. 93
APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency. 92
Efficacy and safety of atorvastatin compared to pravastatin in patients with hypercholesterolemia. 92
Molecular diagnosis of hypobetalipoproteinemia: an ENID review 92
Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. 92
Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia). 91
Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia. 90
Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FH Potenza). 88
Totale 11.175
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Categoria #
all - tutte 35.836
article - articoli 35.836
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 71.672
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.532 0 0 0 0 0 375 496 256 316 601 364 124
2020/20211.025 51 88 95 68 54 90 151 80 89 101 85 73
2021/20221.599 54 126 105 222 34 136 117 367 65 135 63 175
2022/20231.411 148 66 30 125 269 304 3 104 247 5 97 13
2023/2024666 31 105 12 87 87 137 22 23 29 7 42 84
2024/2025969 59 172 78 145 312 203 0 0 0 0 0 0
Totale 13.798