IRIS
BERTOLINI, STEFANO
 Distribuzione geografica
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Continente #
EU - Europa 15.478
AS - Asia 471
SA - Sud America 79
NA - Nord America 35
AF - Africa 12
Continente sconosciuto - Info sul continente non disponibili 1
Totale 16.076
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Nazione #
IT - Italia 15.462
SG - Singapore 212
CN - Cina 135
VN - Vietnam 88
BR - Brasile 53
US - Stati Uniti d'America 21
AR - Argentina 16
MX - Messico 13
HK - Hong Kong 12
ID - Indonesia 5
IQ - Iraq 5
RU - Federazione Russa 4
ZA - Sudafrica 4
IN - India 3
PE - Perù 3
SA - Arabia Saudita 3
AT - Austria 2
BG - Bulgaria 2
CL - Cile 2
CZ - Repubblica Ceca 2
EC - Ecuador 2
SK - Slovacchia (Repubblica Slovacca) 2
TN - Tunisia 2
TR - Turchia 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
CM - Camerun 1
EG - Egitto 1
GA - Gabon 1
GB - Regno Unito 1
HN - Honduras 1
IL - Israele 1
IR - Iran 1
MA - Marocco 1
NA - Namibia 1
OM - Oman 1
PK - Pakistan 1
PL - Polonia 1
PY - Paraguay 1
SN - Senegal 1
UA - Ucraina 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 16.076
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Città #
Genova 10.644
Genoa 2.813
Rapallo 1.131
Vado Ligure 860
Singapore 109
Beijing 32
Ho Chi Minh City 27
Hanoi 22
Ashburn 15
Hong Kong 12
Bordighera 11
Mexico City 9
Tianjin 7
Haiphong 4
Da Nang 3
Ha Long 3
Johannesburg 3
Thái Bình 3
Monte Grande 2
New Delhi 2
Quilmes 2
Quảng Ngãi 2
Sassari 2
Sorocaba 2
Sumaré 2
Abu Dhabi 1
Alexandria 1
Alvorada 1
Americana 1
Ankara 1
Antakya 1
Anyang 1
Araguaiana 1
Aryanah 1
Asunción 1
Basra 1
Belo Horizonte 1
Betim 1
Biên Hòa 1
Boardman 1
Bofete 1
Brasília 1
Bratislava 1
Bratkowice 1
Bình Dương 1
Calchín 1
Campinas 1
Campos dos Goytacazes 1
Can Tho 1
Canals 1
Casablanca 1
Ciudad Guayana 1
Ciudad López Mateos 1
Comalcalco 1
Conceição do Mato Dentro 1
Coro 1
Cubatão 1
Curitiba 1
Cà Mau 1
Dakar 1
Diadema 1
Douala 1
Duque de Caxias 1
Estrela d'Oeste 1
Ezeiza 1
General Pico 1
General Roca 1
Gravatá 1
Guadalajara 1
Guarulhos 1
Guayaquil 1
Hangzhou 1
Hải Dương 1
Imbituva 1
Indaiatuba 1
Itaperuna 1
Itumbiara 1
Jakarta 1
Jeddah 1
Khimki 1
La Plata 1
Lahore 1
Lanús Oeste 1
Leandro N. Alem 1
Libreville 1
Lima 1
Luoyang 1
Luziânia 1
Magé 1
Manaus 1
Mauriti 1
Mauá 1
Medina 1
Merlo 1
Minaçu 1
Mirassol 1
Mogi Guaçu 1
Moscow 1
Muscat 1
Nanjing 1
Totale 15.797
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Nome #
Lipoproteins, stroke and statins. 201
A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla) 188
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia 180
Baseline hs-CRP predicts hypertension remission in metabolic syndrome 174
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia 173
Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients. 167
A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment. 167
A silent mutation of Niemann-Pick C1-like 1 and apolipoprotein E4 modulate cholesterol absorption in primary hyperlipidemias. 165
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). 160
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene. 156
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease 155
An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia. 155
A “de novo” mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia. 154
A Third Major Locus for Autosomal Dominant Hypercholesterolemia maps at 1p34.1-p32. 150
Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. 149
Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia 148
A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia 147
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. 147
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study 147
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. 146
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 144
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. 144
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia 143
A ‘de novo’ point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia 142
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene 142
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia. 142
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste). 141
Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations. 141
HEMORHEOLOGICAL AND CEREBRAL BLOOD FLOW CHANGES INDUCED BY LDL- APHERESIS IN FAMILIAL HYPERCHOLESTEROLEMIC PATIENTS. 141
Use of three DNA polymorphisms of the LDL-receptor gene in the diagnosis of Familial Hypercholesterolemia. 140
Four novel partial deletions of LDL receptor gene in Italian patients with Familial Hypercholesterolemia 140
Duplication of exons 13, 14 and 15 of LDL-receptor gene in a patient with heterozygous Familial Hypercholesterolemia. 139
A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene 139
Analysis of LDL receptor gene mutations in Italian patients with homozygous Familial Hypercholesterolemia 138
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). 138
Identification of an alternative transcript of ABCA1 gene in different human cell types. 137
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 136
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency 135
Traditional and non traditional risk factors in accelerated atherosclerosis in systemic lupus erythematosus: role of vascular endothelial growth factor (VEGATS Study). 134
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia 133
Regional cerebral blood flow in familial hypercholesterolemia 133
Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e. 132
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 132
Altered mRNA splicing in lipoprotein disorders. 130
Serum lipoprotein (a) predicts acute coronary syndromes in patients with severe carotid stenosis 130
Correlation between Progetto Cuore risk score and early cardiovascular damage in never treated subjects 129
Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolemia. 128
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) 128
Quantitative polymerase chain reaction and microchip electrophoresis to detect major rearrangements of the low-density lipoprotein receptor gene causing familial hypercholesterolemia. 127
Serum homocysteine, methylenetetrahydrofolate reductase gene polymorphism and cardiovascular disease in heterozygous familial hypercholesterolemia. 127
Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors 126
Cerebrotendinous xanthomatosis caused by two new mutations of sterol-27-hydroxylase gene that disrupt mRNA splicing. 126
Gene polymorphisms predicting high plasma levels of coagulation and fibrinolysis proteins: a study in centenarians. 125
Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia. 125
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 124
Blood and synovial levels of piroxicam and their effects on some metabolites of arachidonic acid 124
Pvu II polymorphism of low density lipoprotein receptor gene and familial hypercholesterolemia. Study of Italians. 124
p53 variants predisposing to cancer are present in healthy centenarians. 124
Severe HDL deficiency due to novel defects in the ABCA1 transporter. 123
Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years. 123
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels and sterol elimination: implications for classification and disease risk 123
Presence of soluble amyloid beta peptide precedes amyloid plaque formation in Down's syndrome 121
Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes 121
Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients. 120
Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians. 119
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). 118
Polymorphisms of Drug-Metabolizing Enzymes in healthy Nonagenarians and Centenarians: difference at GSTT1 locus. 118
Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing Familial Hypercholesterolemia (FH Salerno) 118
LDL apheresis in a homozygous familial hypercholesterolemic child aged 4.5. 118
Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations. 118
Molecular characterization of two patients with severe LCAT deficiency. 117
Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia. 117
Effects of a phytosterol-enriched dairy product on lipids, sterols and 8-isoprostane in hypercholesterolemic patients: a multicenter Italian study. 116
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL Receptor Adaptor Protein. 116
Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor. 116
Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency. 114
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. 113
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis. 113
Functional analysis of the promoter of human sterol 27-hydroxylase gene in HepG2 cells. 111
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinemia. 111
Effects of three low-dose oral contraceptive formulations on lipid metabolism. 111
Characterization of three mutations of LDL-receptor gene in Italians patients with Familial Hypercholesterolemia. 111
Mutant factor V (Arg506Gln) in healthy centenarians. 110
DNA multiallelic systems reveal gene/longevity associations not detected by diallelic systems. The APOB locus. 110
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). 110
Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. 107
Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2). 106
Denaturing high-performance liquid chromatography (DHPLC) in the detection of mutations of ABCA1 gene in Familial HDL Deficiency. 105
Hypobetalipoproteinemia with an apparently recessive inheritance due to a “de novo” mutation of apolipoprotein B. 105
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. 105
Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion. 105
Pharmacological treatment of a Sardinian patient affected by autosomal recessive hypercholesterolemia (ARH) 105
Low-density lipoprotein apheresis in a patient aged 3.5 years. 105
Occurrence of multiple aberrantly spliced mRNAs of LDL-receptor Gene upon a donor splice site mutation that causes Familial Hypercholesterolemia (FH-Benevento). 105
Four novel mutations of sterol-27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis. 104
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia. 103
Efficacy and safety of atorvastatin compared to pravastatin in patients with hypercholesterolemia. 103
Variation in the LDL-receptor gene is associated with differences in plasma LDL-cholesterol levels in young and old normal individuals from Italy. 103
Apolipoprotein E4 allele frequency is not increased in progressive sopranuclear palsy 102
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. 102
Totale 13.013
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Categoria #
all - tutte 46.891
article - articoli 46.891
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 93.782
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021669 0 0 0 0 0 90 151 80 89 101 85 73
2021/20221.599 54 126 105 222 34 136 117 367 65 135 63 175
2022/20231.385 148 62 30 124 264 300 3 103 241 5 92 13
2023/2024643 30 103 12 84 85 135 22 20 29 5 40 78
2024/20251.900 36 165 73 137 305 197 139 278 46 87 167 270
2025/20261.527 402 109 194 276 482 64 0 0 0 0 0 0
Totale 16.207