TARUGI, Patrizia Maria
 Distribuzione geografica
Continente #
NA - Nord America 10.631
EU - Europa 5.025
AS - Asia 922
SA - Sud America 33
Continente sconosciuto - Info sul continente non disponibili 16
OC - Oceania 6
AF - Africa 5
Totale 16.638
Nazione #
US - Stati Uniti d'America 10.593
GB - Regno Unito 2.052
IT - Italia 965
SE - Svezia 679
CN - Cina 400
DE - Germania 399
UA - Ucraina 309
HK - Hong Kong 242
FI - Finlandia 176
TR - Turchia 155
BG - Bulgaria 139
FR - Francia 128
IN - India 47
BE - Belgio 46
NL - Olanda 31
IE - Irlanda 24
CA - Canada 23
RU - Federazione Russa 21
BR - Brasile 17
EU - Europa 15
BZ - Belize 13
CH - Svizzera 13
JP - Giappone 12
ES - Italia 10
IR - Iran 10
TW - Taiwan 8
VN - Vietnam 8
MY - Malesia 7
LT - Lituania 6
PL - Polonia 6
AU - Australia 5
CO - Colombia 5
KR - Corea 5
AR - Argentina 4
HU - Ungheria 4
ID - Indonesia 4
LK - Sri Lanka 4
PK - Pakistan 4
PT - Portogallo 4
SG - Singapore 4
BA - Bosnia-Erzegovina 3
IL - Israele 3
PE - Perù 3
PH - Filippine 3
RO - Romania 3
KG - Kirghizistan 2
MD - Moldavia 2
MX - Messico 2
SI - Slovenia 2
TN - Tunisia 2
UY - Uruguay 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AZ - Azerbaigian 1
BD - Bangladesh 1
BH - Bahrain 1
BO - Bolivia 1
CL - Cile 1
CZ - Repubblica Ceca 1
EG - Egitto 1
GR - Grecia 1
MA - Marocco 1
NG - Nigeria 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
TH - Thailandia 1
Totale 16.638
Città #
Southend 1.766
Fairfield 1.667
Woodbridge 1.149
Houston 873
Ashburn 812
Jacksonville 698
Chandler 664
Seattle 632
Wilmington 591
Ann Arbor 522
Cambridge 487
Dearborn 403
Nyköping 396
Modena 247
Hong Kong 238
Beijing 156
San Diego 150
Princeton 149
Sofia 136
Eugene 110
Helsinki 75
New York 74
Izmir 73
Milan 72
Des Moines 67
Falls Church 61
Rome 56
Los Angeles 53
Grafing 51
London 51
Bremen 39
Brussels 33
Shanghai 32
Boardman 29
Redwood City 29
Nanjing 24
Dublin 22
Norwalk 21
San Jose 20
Naples 19
San Mateo 19
Kilburn 17
Hefei 15
Kunming 15
Indiana 14
Belize City 13
Fremont 13
Hounslow 13
Islington 12
Paris 12
Verona 12
Auburn Hills 10
Jinan 10
Toronto 10
Turin 10
Leawood 9
Palermo 9
Washington 9
Augusta 8
Brescia 8
Chiswick 8
Dong Ket 8
Hebei 8
Padova 8
Parma 8
Reggio Emilia 8
Saint Louis 8
Waanrode 8
Acton 7
Bartlesville 7
Cagliari 7
San Francisco 7
Chicago 6
Dallas 6
Detroit 6
Florence 6
Frankfurt am Main 6
Piacenza 6
Bologna 5
Ferrara 5
Hyderabad 5
Melbourne 5
Saint Petersburg 5
San Giorgio Ionico 5
Southwark 5
Alexandria 4
Benevento 4
Casalnuovo di Napoli 4
Catania 4
Colombo 4
Monopoli 4
Mumbai 4
Nanchang 4
Nürnberg 4
Philadelphia 4
Ravenna 4
San Giuliano Milanese 4
Sesto Fiorentino 4
Singapore 4
Szeged 4
Totale 13.208
Nome #
CASO CLINICO: QUANDO LA RISPOSTA ALLA DIETA IPOLIPIDEMIZZANTE DETERMINA LA DIAGNOSI 648
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) 369
Implementation of an NGS-based workflow for BRCA1 and BRCA2 mutation screening 245
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations 225
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study 210
Altered mRNA splicing in lipoprotein disorders. 205
Threshold Effects of Circulating Angiopoietin-Like 3 Levels on Plasma Lipoproteins. 204
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia 201
Impact of rare variants in autosomal dominant hypercholesterolemia causing genes. 197
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene 192
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects 189
Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors 184
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis 183
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. 181
Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride. 181
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia 178
Low-density lipoprotein (LDL) receptor/transferrin fusion protein: in vivoproduction and functional evaluation as a potential therapeutic tool forlowering plasma LDL cholesterol. 176
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B 175
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia 173
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study 173
Sequential expression during postnatal development of specific markers of junctional and free sarcoplasmic reticulum in chicken pectoralis muscle. 171
Plasma non-cholesterol sterols in primary hypobetalipoproteinemia. 171
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia 169
A 54-year-old diabetic man with low serum cholesterol. 168
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred. 167
A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (apo B-54.5) 166
A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol 165
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian Patients: Identification and structural modeling of novel mutations 165
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. 163
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. 163
Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol–diabetes connection? A systematic review of literature 162
Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia 161
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum(PXE). 157
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia 155
Separation of the isoprotein forms of apoprotein A-I of rat, rabbit and human HDL by combined isoelectrofocusing and SDS-polyacrylamide gel electrophoresis. 155
DIAGNOSI MOLECOLARE DELLE IPERTRIGLICERIDEMIE PRIMITIVE ATTRAVERSO “NGS” (NEXT GENERATION SEQUENCING) 155
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. 154
Plasma and urine lipoproteins during the development of nephrotic syndrome induced in the rat by adriamycin. 152
Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up. 150
Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations 149
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2+5G > C mutation in ABCA1 gene 149
Effect of a thromboxane A2 synthase inhibitor on the dyslipoproteinemia of an inbred rat strain with spontaneous age-related nephrotic syndrome 148
Hypobetalipoproteinemia with an apparently recessive inheritance due to a de novo mutation of apolipoprotein B 148
Improvement in the high-performance liquid chromatography malondialdehyde level determination in normal human plasma 148
Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B 146
A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. 146
Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia 145
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia 144
Microsomal Triglyceride Transfer Protein Transfers and Determines Plasma Concentrations of Ceramide and Sphingomyelin but Not Glycosylceramide 144
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis. 144
Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia 143
Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia. 142
Adult-onset Niemann-Pick type C disease: A clinical, neuroimaging, and molecular genetic study 142
Cholesterol synthesis in isolated rat hepatocytes: effect of homologous and heterologous serum lipoproteins. 141
Chemical and morphological changes of rat plasma lipoproteins after a prolonged administration of diets containing olive oil and cholesterol. 140
Isoforms of rat apolipoprotein A-I isolated from the lipoproteins of hepatic Golgi apparatus and plasma. 139
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. 138
Characterization of Three Kindreds with Familial Combined Hypolipidemia Due to Loss of Function Mutations of ANGPTL3. 137
Apolipoprotein B-100 production and cholesteryl ester content in the liver of developing chick 137
Pediatric gallstone disease in familial hypobetalipoproteinemia 135
Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene. 134
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders 134
Cholesterol synthesis in freshly isolated human leukocytes. 133
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations 133
The protective effect on Cu2+- and AAPH-mediated oxidation of human low-density lipoproteins depends on glycosaminoglycan structure 131
Isolation of a cDNA clone for chick intestinal apolipoprotein AI (Apo-AI) and its use for detecting apo-AI mRNA expression in several chick tissues. 129
Influence of chondroitin sulfate charge density, sulfate group position, and molecular mass on Cu2+-mediated oxidation of human low-density lipoproteins: Effect of normal human plasma-derived chondroitin sulfate 128
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function 128
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage 127
Dyslipidemia in rats with hypothyroidism 127
Synthesis and secretion of apolipoprotein A-I by chick skin. 127
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. 126
Heavy metals and experimental atherosclerosis. Effect of lead intoxication on rabbit plasma lipoproteins. 124
Changes in apolipoprotein A-I mRNA level in the liver of rats with experimental nephrotic syndrome 123
The complete sequence of chick apolipoprotein AI mRNA and its expression in the developing chick 122
Genetics and molecular biology: proprotein convertase subtilisin/kexin type 9 and LDL receptor--an intriguing story. 120
Novel mutations of CETP gene in Italian subjects with hyeralphalipoproteinemia 119
Exome Sequencing in Suspected Monogenic Dyslipidemias 119
Molecular diagnosis of hypobetalipoproteinemia: an ENID Review 118
Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency 117
Secretion of apoB- and apoA-I-containing lipoproteins by chick kidney 116
The C-terminal domain of apolipoprotein A-I is involved in ABCA1-driven phospholipid and cholesterol efflux 113
Dyslipoproteinemia in an inbred rat strain with spontaneous chronic progressive nephrotic syndrome 112
Synthesis and secretion of B-100 and A-I apolipoproteins in response to the changes of intracellular cholesteryl ester content in chick liver 112
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia 112
APOA5 and trigliceride metabolism, lesson from human APOA5 deficiency. 111
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia 111
Heterozygous familial hypobetalipoproteinemia associated with fatty liver 110
Plasma lipoproteins, tissue cholesterol overload, and skeletal muscle apolipoprotein A-I synthesis in the developing chick. 108
Lipid and apoprotein composition of HDL in partial or complete CETP deficiency. 108
β-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia 104
Absence of apolipoprotein B-48 in the chick, Gallus domesticus 104
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 disease. 104
Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes 102
Hypercholesterolemia in Childhood: How the Response to Diet could Lead to Diagnosis. Lesson from a Case-Report 102
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features. 100
Phenotypic expression of heterozygous familial hypobetalipoproteinemia in three kindreds with novel mutations of apolipoprotein B gene 95
Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. 93
Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma 90
Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia 89
Totale 15.178
Categoria #
all - tutte 69.808
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 69.808


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019897 0 0 0 0 0 0 0 0 0 0 423 474
2019/20203.869 380 157 155 240 489 582 633 432 344 134 177 146
2020/20212.998 324 99 182 339 320 217 285 370 105 380 206 171
2021/20222.572 151 283 219 191 56 213 151 106 282 215 454 251
2022/20232.204 257 218 159 179 252 351 40 196 294 46 131 81
2023/20241.438 73 83 149 147 301 148 131 187 74 120 25 0
Totale 16.821