IRIS
FORTUNATO, GIULIANA
 Distribuzione geografica
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Continente #
AS - Asia 5.300
NA - Nord America 4.471
EU - Europa 4.384
SA - Sud America 793
AF - Africa 169
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 3
Totale 15.127
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Nazione #
US - Stati Uniti d'America 4.272
SG - Singapore 3.010
RU - Federazione Russa 2.104
CN - Cina 1.165
IT - Italia 841
BR - Brasile 637
HK - Hong Kong 437
VN - Vietnam 373
DE - Germania 304
NL - Olanda 228
FI - Finlandia 183
UA - Ucraina 173
GB - Regno Unito 122
CA - Canada 117
IE - Irlanda 109
IN - India 81
FR - Francia 76
SE - Svezia 74
AR - Argentina 73
CI - Costa d'Avorio 73
MX - Messico 61
ZA - Sudafrica 47
PL - Polonia 43
BD - Bangladesh 36
KR - Corea 27
EC - Ecuador 23
JP - Giappone 23
AT - Austria 22
ES - Italia 22
IQ - Iraq 20
TR - Turchia 20
CZ - Repubblica Ceca 17
ID - Indonesia 17
CO - Colombia 16
IR - Iran 13
LT - Lituania 13
VE - Venezuela 13
UZ - Uzbekistan 11
AE - Emirati Arabi Uniti 9
KE - Kenya 9
MA - Marocco 9
PK - Pakistan 8
PY - Paraguay 8
UY - Uruguay 8
AL - Albania 6
BG - Bulgaria 6
PE - Perù 6
BY - Bielorussia 5
CL - Cile 5
DO - Repubblica Dominicana 5
JO - Giordania 5
NP - Nepal 5
SA - Arabia Saudita 5
BE - Belgio 4
CH - Svizzera 4
DZ - Algeria 4
KZ - Kazakistan 4
SK - Slovacchia (Repubblica Slovacca) 4
AM - Armenia 3
AU - Australia 3
BO - Bolivia 3
EG - Egitto 3
IL - Israele 3
LB - Libano 3
LV - Lettonia 3
NZ - Nuova Zelanda 3
PH - Filippine 3
PS - Palestinian Territory 3
PT - Portogallo 3
SI - Slovenia 3
TN - Tunisia 3
TT - Trinidad e Tobago 3
AZ - Azerbaigian 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
CV - Capo Verde 2
DK - Danimarca 2
DM - Dominica 2
ET - Etiopia 2
EU - Europa 2
GT - Guatemala 2
HN - Honduras 2
HR - Croazia 2
NI - Nicaragua 2
OM - Oman 2
SM - San Marino 2
TH - Thailandia 2
TZ - Tanzania 2
YT - Mayotte 2
ZM - Zambia 2
AO - Angola 1
BB - Barbados 1
BJ - Benin 1
BW - Botswana 1
CD - Congo 1
CR - Costa Rica 1
CY - Cipro 1
EE - Estonia 1
GE - Georgia 1
GH - Ghana 1
Totale 15.103
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Città #
Singapore 1.430
Moscow 494
Chandler 489
Hong Kong 430
Ashburn 395
Beijing 372
Santa Clara 219
Hefei 194
Amsterdam 181
Jacksonville 159
Los Angeles 158
Dallas 147
Millbury 132
Naples 132
Boston 128
Princeton 124
Ho Chi Minh City 120
Napoli 98
Nanjing 96
New York 90
Boardman 83
Hanoi 79
Buffalo 72
Munich 71
São Paulo 60
Ottawa 53
Wilmington 53
San Jose 47
The Dalles 46
Redondo Beach 45
Brooklyn 39
Nanchang 38
Nuremberg 38
Dong Ket 34
Helsinki 34
Warsaw 34
Des Moines 33
Seattle 33
Mexico City 28
Lawrence 26
Rome 26
Denver 25
Seoul 25
Chennai 24
Montreal 24
Frankfurt am Main 23
Johannesburg 23
Shenyang 23
Milan 22
Orem 22
Stockholm 22
Turku 22
Washington 21
Tianjin 20
Tokyo 20
Toronto 20
Chicago 19
Hebei 19
London 19
Haiphong 18
Houston 18
Poplar 18
Rio de Janeiro 18
Woodbridge 18
Dublin 17
Marsala 17
Norwalk 17
Falls Church 16
Kronberg 16
Atlanta 15
Curitiba 14
Falkenstein 14
Redwood City 14
Shanghai 14
Brno 13
Phoenix 13
Baghdad 12
Guayaquil 12
Augusta 11
Brasília 11
Changsha 11
Da Nang 11
Ercolano 11
Mumbai 11
San Francisco 11
Ankara 10
Bologna 10
Manchester 10
Belo Horizonte 9
Biên Hòa 9
Campinas 9
Caserta 9
Council Bluffs 9
Düsseldorf 9
Jiaxing 9
Kunming 9
Nairobi 9
Tashkent 9
Vienna 9
Xi'an 9
Totale 7.462
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Nome #
Biochimica del pancreas 195
Galectin-3 and Lp(a) plasma concentrations and advanced carotid atherosclerotic plaques: correlation with plaque presence and features 154
Heterogeneity of malignant hyperthermia: a study in families from the south of Italy. 143
Cardiac troponin T and amino-terminal pro-natriuretic peptide concentrations in fetuses in the second trimester and in healthy neonates. 137
A case of cerebrotendinous xanthomatosis in a woman with a normal cholesterolemia. 128
A paraoxonase gene polymorphism pon 1 (55) as an independent factor for increased carotid imt in women 127
Paraoxonase and superoxide dismutase gene polymorphisms and noise-induced hearing loss. 123
Mutations in the RYR1 gene and their functional characterization in immortalized lymphocytes by detection of proton release rate. 122
A wide next-generation-sequencing panel improves the molecular diagnosis of dyslipidemias 122
Identification and functional characterization of a new mutation leading to defective uptake of LDL-LDLR complex. 121
Genetic linkage analysis in Italian malignant hyperthermia families. 121
Efficacy and safety of lomitapide in homozygous familial hypercholesterolaemia: the pan-European retrospective observational study 121
Decreased Paraoxonase-2 Expression in Human Carotids During the Progression of Atherosclerosis 119
A case of discordance between genotype and phenotype in a malignant hyperthermia family 118
B-Type Natriuretic Peptides and High-Sensitive Troponin I as COVID-19 Survival Factors: Which One Is the Best Performer? 117
Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study 116
A case of discordance between phenotype and genotype in malignant hyperthermia in the presence of the arg614cys mutation in the RYR1 gene 116
Livelli sierici degli isoenzimi della LDH e della pseudoridina in leucemie e linfomi 113
Expression of inflammation-related genes in human atherosclerotic plaques. 113
A case of cerebrotendinous xantomatosis in a woman with a normal colesterolemia 112
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) 111
Periprocedural myocardial infarction in patients undergoing complex versus noncomplex percutaneous coronary intervention 110
Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia 110
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene 110
Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy 109
Decreased paraoxonase - 2 expression in human carotids during the progression of atherosclerosis 109
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study 109
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement 109
Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia 108
RAS and MTHFR gene polymorphisms in a healthy exercise-trained population:association with the MTHFR (TT) genotype and a lower hemoglobin level. 107
Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with familial hypercholesterolemia: A single center real-world study 107
Prevalence and Long-term corse of macro-aspartate aminotransferase in children 106
Identification of deletions in LDLR gene by Multiplex Ligation-Dependent Probe Amplification Analysis. 106
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study 106
Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio 106
Case Report: Genetic Analysis of PEG-Asparaginase Induced Severe Hypertriglyceridemia in an Adult With Acute Lymphoblastic Leukaemia 106
Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia 104
Functional characterization of novel RYR1 mutations using a metabolic assay of B-lymphocytes. 103
An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations. 103
A multilayer perceptron neural network-based approach for the identification of responsiveness to interferon therapy in multiple sclerosis patients 102
Novel mutations in the ryanodine receptor gene (RYR1) identified in malignant hyperthermia susceptible subjects. 102
Homocysteine levels and sustained virological response to pegylated-interferon alpha2b plus ribavirin therapy for chronic hepatitis C: a prospective study. 101
Identification of Single Nucleotide Polymorphisms associated to Familial Combined Hyperlipidemia. 101
Investigation of Single Nucleotide Polymorphisms Associated to Familial Combined Hyperlipidemia with Random Forests. 101
The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group 100
A case of discordance between genotype and phenotype in a malignant hyperthermia family. 100
Familial hypercholesterolemia: a flow chart for the molecular diagnosis. 100
Expression of inflammation-related genes in human atherosclerotic plaque. 100
Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries. 100
Sex-related differences in response to lomitapide in HoFH: A subanalysis of the Pan-European Lomitapide retrospective observational study 99
Calprotectin Levels and Neutrophil Count Are Prognostic Markers of Mortality in COVID-19 Patients 99
Linkage analysis of the ryanodine receptor (RYR1) gene in Italian malignant hyperthermia families. 99
Familial hypercholesterolemia: A complex genetic disease with variable phenotypes 99
Identification of new polymorphisms in the CACNA1S gene. 98
Serum Pseudouridine In the Diagnosis of Acute Leukemias and As A Novel Prognostic Indicator In Acute Lymphoblastic-leukemia 98
Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia 98
Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis 95
Malignant hyperthermia: from prevention to diagnosis 95
Identification and functional characterization of the malignant hyperthermia mutation T1354S in the α1S subunit of the skeletal muscle voltage-gated calcium channel. 95
Association between apolipoprotein E polymorphisms and metabolic syndrome in women. 95
Serum pseudouridine in the diagnosis of acute leukaemias and as a novel prognostic indicator in acute lymphoblastic leukaemia 95
A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia 95
The CEINGE Biobank of biological samples: storage and management 94
Miniaturized flow cytometry-based BCR-ABL immunoassay in detecting leptomeningeal disease 94
Familial Combined Hyperlipidemia: identification of misdiagnosed patients by detection of LDLR mutations. 94
A first comparative study on two cell colture techniques – stimulated T cells and continous lymphoblastoid cell lines – in the detection of LDL receptor residual activity versus molecular genetic analysys 94
Relazione tra polimorfismi del gene paraoxonasi ed ischemia miocardica indotta da stress in pazienti con sospetta malattia coronarica 94
Sequence Analysis of the UCP1 Gene in a Severe ObesePopulation from Southern Italy. 94
Association of USF1 and APOA5 polymorphisms with familial combined hyperlipidemia in an Italian population. 94
Assessment of Platelet Aggregation and Thrombin Generation in Patients with Familial Chylomicronemia Syndrome Treated with Volanesorsen: A Cross-Sectional Study 93
Biochimica del muscolo cardiaco 93
Age-related changes of cholestanol and lathosterol plasma concentrations: An explorative study 93
Endothelial function improvement in patients with familial hypercholesterolemia receiving PCSK-9 inhibitors on top of maximally tolerated lipid lowering therapy 93
Evidence Supporting Criteria for Periprocedural Myocardial Infarction in Patients Undergoing Elective Percutaneous Coronary Intervention 92
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports 92
Polymorphisms and the expression of genes encoding enzymes involved in cardiovascular diseases 91
Multivariate discriminant function based on six biochemical markers in blood can predict the cirrhotic evolution of chronic hepatitis 91
Another lactate dehydrogenase-IgA complex in serum 91
Identificazione e caratterizzazione funzionale di mutazioni nel gene LDLR in pazienti del sud Italia affetti da Ipercolesterolemia familiare. 91
Changes in carotid stiffness in patients with familial hypercholesterolemia treated with Evolocumab®: A prospective cohort study 91
Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA) 90
EXPRESSION OF ADIPONECTIN RECEPTORS IN HUMAN CAROTID ATHEROSCLEROTIC PLAQUES Abstracts from the 12th National Congress of the Italian Society of Cardiovascular Prevention (SIPREC), Naples, 6–8 March 2014 90
Correlation between low adenosine A2A receptor expression and hypercholesterolemia: A new component of the cardiovascular risk? 90
Carotid Artery Remodeling in Middle-Aged Women With the Metabolic Syndrome (from the "Progetto ATENA" Study). 89
Metabolic overreaction in response to 4-chloro-m-cresol in immortalized B-lymphocytes from malignant hyperthermia susceptible individuals with a novel RYR1 mutation. 89
Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome 88
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports 88
Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia 88
Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing? 88
Organizzazione e gestione della Biobanca del CEINGE 88
Genetic heterogeneity of malignant hyperthermia in Italian families. 88
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family 87
Biochimica del tessuto muscolare scheletrico e tessuto muscolare liscio 87
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey 87
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry 87
Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study 86
Serum pseudouridine in the diagnosis of acute leukaemias and as a novel prognostic indicator in acute lymphoblastic leukaemia 86
Plasma Exchange and heterozygous FH: a case report 86
The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family 86
ECHOCARDIOGRAFIC ANDECO-DOPPLER ABNORMALITIESIN RELATION TO LDL CHOLESTEROLIN FAMILIAL HYPERCHOLESTEROLEMIA 85
Totale 10.266
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Categoria #
all - tutte 51.540
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 51.540
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021249 0 0 0 0 0 0 44 14 47 16 76 52
2021/2022866 28 0 2 12 17 7 6 42 95 63 243 351
2022/20231.189 160 61 36 91 168 134 4 118 166 181 56 14
2023/2024857 34 117 69 62 49 92 21 114 8 42 139 110
2024/20254.998 262 257 22 149 143 240 514 299 405 508 1.781 418
2025/20265.813 1.123 666 883 931 1.758 396 56 0 0 0 0 0
Totale 15.330