IRIS
PISCIOTTA, LIVIA
 Distribuzione geografica
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Continente #
EU - Europa 8.664
Totale 8.664
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Nazione #
IT - Italia 8.664
Totale 8.664
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Città #
Genova 6.691
Rapallo 1.041
Genoa 891
Bordighera 41
Totale 8.664
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Nome #
Lipoproteins, stroke and statins. 174
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia 142
Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. 130
Clinical characteristics, management and in-hospital mortality of patients with COVID-19 In Genoa, Italy 130
A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla) 127
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene. 126
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia 126
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. 125
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. 122
Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients. 122
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 122
Effect of statins on LDL particle size in patients with familial combined hyperlipidemia: a comparison between atorvastatin and pravastatin. 121
Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations. 118
An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia. 117
Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. 117
Short-term effect of rosuvastatin treatment on arterial stiffness in individuals with newly-diagnosed heterozygous familial hypercholesterolemia 116
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia 115
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease 113
Changes in the expression of cytokeratins and nuclear matrix proteins are correlated with the level of differentiation in human prostate cancer 111
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene 110
Serum lipoprotein (a) predicts acute coronary syndromes in patients with severe carotid stenosis 110
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) 109
Severe HDL deficiency due to novel defects in the ABCA1 transporter. 108
Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia. 108
A “de novo” mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia. 108
Quantitative polymerase chain reaction and microchip electrophoresis to detect major rearrangements of the low-density lipoprotein receptor gene causing familial hypercholesterolemia. 108
Serum homocysteine, methylenetetrahydrofolate reductase gene polymorphism and cardiovascular disease in heterozygous familial hypercholesterolemia. 108
Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia 107
Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes 107
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 107
Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e. 106
Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors 106
A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia 106
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 105
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia 105
A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment. 104
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia. 104
A silent mutation of Niemann-Pick C1-like 1 and apolipoprotein E4 modulate cholesterol absorption in primary hyperlipidemias. 103
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study 103
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 102
Baseline hs-CRP predicts hypertension remission in metabolic syndrome 102
Molecular characterization of two patients with severe LCAT deficiency. 100
Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency. 100
A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene 98
Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years. 98
Toward an international consensus-Integrating lipoprotein apheresis and new lipid-lowering drugs 98
Traditional and non traditional risk factors in accelerated atherosclerosis in systemic lupus erythematosus: role of vascular endothelial growth factor (VEGATS Study). 98
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study 97
Carotid ultrasonography in the assessment of cardiovascular risk 97
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis. 97
Plasma PCSK9 levels and lipoprotein distribution are preserved in carriers of genetic HDL disorders 96
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency 94
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. 90
Denaturing high-performance liquid chromatography (DHPLC) in the detection of mutations of ABCA1 gene in Familial HDL Deficiency. 89
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. 89
Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia. 89
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) 89
Pharmacological treatment of a Sardinian patient affected by autosomal recessive hypercholesterolemia (ARH) 85
Changes in the Expression of the Nuclear Matrix Intermediate Filament Complex Proteins are correlated with the Level of Differentiation in Human Prostate Cancer. 84
Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia. 81
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants 81
Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia - Brief Report 80
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia. 78
The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. 78
Prevalence and prognostic value of cardiac troponin in elderly patients hospitalized for COVID-19 77
Clinical Expression of Familial Hypercholesterolemia in clusters of mutations of LDL-receptor gene causing receptor-defective or receptor-negative phenotype 75
Efficacy of Nutraceutical Combination of Monacolin K, Berberine, and Silymarin on Lipid Profile and PCSK9 Plasma Level in a Cohort of Hypercholesterolemic Patients 74
First on-line survey of an international multidisciplinary working group (MightyMedic) on current practice in diagnosis, therapy and follow-up of dyslipidemias 73
Testing the Short-Term Efficacy of a Lipid-Lowering Nutraceutical in the Setting of Clinical Practice: A Multicenter Study 71
Lipoprotein Glomerulopathy: molecular chatacterization of three Italian patients and literature survey. 69
The study of familial hypercholesterolemia in Italy: A narrative review 68
Clinical characteristics, management and in-hospital mortality of patients with coronavirus disease 2019 in Genoa, Italy 67
Evaluation of RNA messangers involved in lipid trafficking of human intestinal cells by RT-PCR with competimer technology and microchip electrophoresis. 66
Characterization of Three Kindred with Familial Combined Hypolipidemia Due to Loss of Function Mutations of ANGPTL3. 62
Troponin elevation does not always mean cardiac ischemia. 62
PCSK9 inhibitors for treating hypercholesterolemia 59
Two novel rare variants of APOA5 gene found in subjects with severe hypertrigliceridemia. 57
Le ipercolesterolemie familiari: forme dominanti e recessive (FH, FDB, FH3, FH4, ARH, beta-sitosterolemia, Deficit di 7alpha-idrossilasi). 56
Hepatic Elastometry and Glissonian Line in the Assessment of Liver Fibrosis 53
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features 51
A successful term pregnancy with severe hypertriglyceridaemia and acute pancreatitis. Clinical management and review of the literature 51
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In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia 48
Long term follow-up of genetically confirmed patients with familial hypercholesterolemia treated with first and second-generation statins and then with PCSK9 monoclonal antibodies 47
Diet and nutraceutical supplementation in dyslipidemic patients: First results of an italian single center real‐world retrospective analysis 47
Extensive activation, tissue trafficking, turnover and functional impairment of NK cells in COVID-19 patients at disease onset associates with subsequent disease severity 45
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) 42
Effect of statin treatment on arterial stiffness in individuals with newly-diagnosed Heterozygous Familial Hypercholesterolemia. 41
Homozygous familial hypercholesterolaemia in childhood – The first case report in Southeast Europe 40
LCAT deficiency: molecular and phenotypic characterization of an Italian family. 39
LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters 39
null 35
Appropriateness criteria for the management of lipid-lowering therapy with alirocumab in high cardiovascular risk patients. The opinion of a multidisciplinary group of Italian experts 33
Effects of a mediterranean diet, dairy, and meat products on different phenotypes of dyslipidemia: A preliminary retrospective analysis 33
Evaluation of the efficacy of plant sterols supplement sterolip® ESI in patients with type IIA hypercholesterolemia in relation to Genetic variants modulating intestinal absorption of cholesterol 32
Clinical efficacy of eucaloric ketogenic nutrition in the COVID-19 cytokine storm: A retrospective analysis of mortality and intensive care unit admission 30
null 29
Whey proteins inhibit food intake and tend to improve oxidative balance in obese zucker rats 29
Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study 28
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey 27
Totale 8.600
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Categoria #
all - tutte 27.560
article - articoli 27.336
book - libri 39
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 185
Totale 55.120
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019433 0 0 0 0 0 0 0 0 0 0 231 202
2019/20202.346 201 61 93 161 198 245 320 180 220 380 225 62
2020/2021915 44 74 115 67 104 72 35 94 68 104 79 59
2021/20221.299 41 109 100 131 47 101 87 296 77 99 73 138
2022/20231.261 121 86 15 112 183 233 53 87 186 51 118 16
2023/2024770 38 90 22 105 109 188 60 65 36 57 0 0
Totale 8.924