IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

DUGA, STEFANO
 Distribuzione geografica
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Continente #
EU - Europa 12.458
NA - Nord America 10.295
AS - Asia 9.227
SA - Sud America 944
AF - Africa 198
OC - Oceania 60
Continente sconosciuto - Info sul continente non disponibili 45
Totale 33.227
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Nazione #
US - Stati Uniti d'America 9.894
GB - Regno Unito 4.474
CN - Cina 2.974
SG - Singapore 2.737
IT - Italia 1.983
DE - Germania 1.434
SE - Svezia 1.006
RU - Federazione Russa 943
HK - Hong Kong 746
BR - Brasile 654
VN - Vietnam 613
FR - Francia 487
NL - Olanda 483
BD - Bangladesh 457
UA - Ucraina 437
IN - India 433
TR - Turchia 373
KR - Corea 323
FI - Finlandia 289
CA - Canada 280
IE - Irlanda 273
EU - Europa 226
CO - Colombia 134
JP - Giappone 127
BE - Belgio 89
ID - Indonesia 89
PL - Polonia 89
ES - Italia 84
DK - Danimarca 75
GR - Grecia 67
AR - Argentina 58
AU - Australia 54
MX - Messico 53
IQ - Iraq 51
CI - Costa d'Avorio 50
AT - Austria 41
IR - Iran 40
SA - Arabia Saudita 35
ZA - Sudafrica 35
CH - Svizzera 34
EC - Ecuador 34
RO - Romania 25
UZ - Uzbekistan 25
CZ - Repubblica Ceca 24
TH - Thailandia 24
MA - Marocco 23
PK - Pakistan 23
LU - Lussemburgo 22
TW - Taiwan 22
VE - Venezuela 21
NO - Norvegia 20
CL - Cile 18
PH - Filippine 18
MY - Malesia 16
EG - Egitto 14
KE - Kenya 14
PT - Portogallo 14
IL - Israele 13
AZ - Azerbaigian 11
TN - Tunisia 11
TT - Trinidad e Tobago 11
JO - Giordania 10
AE - Emirati Arabi Uniti 9
ET - Etiopia 9
NG - Nigeria 9
DZ - Algeria 8
HU - Ungheria 8
NP - Nepal 8
PS - Palestinian Territory 8
KZ - Kazakistan 7
PY - Paraguay 7
GT - Guatemala 6
HN - Honduras 6
PE - Perù 6
UY - Uruguay 6
BA - Bosnia-Erzegovina 5
BG - Bulgaria 5
BY - Bielorussia 5
DO - Repubblica Dominicana 5
JM - Giamaica 5
NI - Nicaragua 5
NZ - Nuova Zelanda 5
PA - Panama 5
SC - Seychelles 5
SI - Slovenia 5
BB - Barbados 4
CR - Costa Rica 4
CY - Cipro 4
EE - Estonia 4
LB - Libano 4
LT - Lituania 4
MD - Moldavia 4
QA - Qatar 4
RS - Serbia 4
A1 - Anonimo 3
AL - Albania 3
AO - Angola 3
BS - Bahamas 3
GH - Ghana 3
IS - Islanda 3
Totale 33.338
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Città #
Southend 4.115
Singapore 1.592
Ashburn 1.058
Chandler 816
Hong Kong 675
Beijing 644
Milan 622
San Jose 559
Frankfurt am Main 491
Seattle 470
Dallas 394
Princeton 375
Wilmington 370
Jacksonville 359
Council Bluffs 293
Ann Arbor 280
Dublin 270
Los Angeles 264
Boardman 240
Santa Clara 227
Mountain View 221
Nanjing 206
Bengaluru 203
Redmond 199
Fairfield 193
Ho Chi Minh City 182
New York 176
Houston 168
Shanghai 162
Serra 160
Dearborn 156
Lauterbourg 150
Hanoi 149
Somerville 138
Des Moines 134
Toronto 131
Woodbridge 131
Sakarya 129
Buffalo 115
Helsinki 114
Bogotá 111
Moscow 111
Guangzhou 108
Andover 104
Hefei 97
Jinan 75
Warsaw 75
Berlin 74
Tokyo 73
São Paulo 71
Ottawa 68
Cambridge 65
Redwood City 64
Shenyang 63
Cangzhou 62
Phoenix 62
Tianjin 61
Athens 60
Columbus 58
Munich 58
Rome 57
Hanover 53
Brussels 51
Jakarta 51
Abidjan 49
The Dalles 48
Bühl 44
Fuzhou 44
Hangzhou 43
Medford 43
Changsha 42
Roxbury 42
Seoul 42
Turin 42
Istanbul 41
Wuhan 41
Nanchang 40
Hebei 39
Atlanta 38
San Diego 37
Utrecht 37
Mumbai 35
London 33
Naples 33
Kunming 32
Düsseldorf 30
Rio de Janeiro 30
Nuremberg 29
Haiphong 28
Paris 28
Waanrode 28
Washington 28
Brooklyn 27
Eitensheim 27
Zhengzhou 27
Da Nang 26
Riyadh 26
Bitonto 25
Chengdu 25
Montreal 25
Totale 20.317
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Nome #
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 624
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy 513
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy 445
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients 411
Detailed stratified GWAS analysis for severe COVID-19 in four European populations 407
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ : Design, Synthesis, and Structure Activity Relationships 373
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites 366
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways 331
A novel homozygous VPS11 variant may cause generalized dystonia 326
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function 308
Gene regulation in the pathogenesis of angioedema due to inherited c1 inhibitor deficiency (hereditary angioedema) 299
Clinical Relevance of Clonal Hematopoiesis in the Oldest-Old Population: Analysis of the "Health and Anemia" Study 288
Tau and alpha-synuclein and genetic susceptibility to Parkinson Disease in the Italian population 285
Fibrinogen Mumbai : intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 284
The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p 283
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest 282
L-aspartate oxidase from Escherichia coli. I. Characterization of coenzyme binding and product inhibition 274
Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript 268
Genetic diagnosis of haemophilia and other inherited bleeding disorders 267
A novel mutation within the MIR96 gene causes nonsyndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 263
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene 260
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 259
Congenital afibrinogenemia : intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene 258
The double-faced association of the PRKCA gene with multiple sclerosis 253
Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency : molecular characterization by expression of the recombinant protein 252
Espressione in vitro e caratterizzazione funzionale di 4 mutazioni responsabili di carenza di fattore XI della coagulazione 252
Identification of novel deafness-causing variants in the tmprss3 gene by whole-exome sequencing 250
Alternative splicing and nonsense-mediated decay in the F5 gene 245
Genetics of rare bleeding disorders 244
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk 239
Gene regulation in the pathogenesis of inherited C1-inhibitor deficiency (Hereditary Angioedema) 236
Analysis of factor V in zebrafish demonstrates minimal levels needed for early hemostasis 236
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 233
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 232
Search for novel deafness genes by exome sequencing of autosomal recessive NSHL families 232
Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease 231
β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration 230
La mutazione tipo II (Glu117stop) causa carenza di fattore XI della coagulazione mediante degradazione allele specifica del corrispondente mRNA 228
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations 227
Differential expression of microRNAs in peripheral blood mononuclear cells of multiple sclerosis patients 224
Database on rare bleeding disorder (RBDS) : phenotype and genotype analysis on 400 affected patients 224
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 223
Exome sequencing identifies PRPS1 as a major locus for X-linked nonsyndromic hearing loss in the Italian population 223
Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V : broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations 222
Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families 222
Mutational screening and functional analyses in the zebrafish model of GIGYF2 as a candidate gene for Parkinson disease 221
Mutational screening of six afibrinogenemic patients : identification and characterization of four novel molecular defects 219
Novel genes and sex differences in COVID-19 severity 218
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene 217
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa 217
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency. 214
Mutational screening and functional analyses in the zebrafish model of GIGYF2 as a candidate gene for Parkinson disease 213
Congenital afibrinogenemia : two novel fibrinogen gene mutations identified in two patients from Iran 212
Identification by exome sequencing and functional characterization of novel deafness-causing mutations in PRPS1 212
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs 212
Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the 210
Identification by whole-exome sequencing of two novel LARS2 mutations in an Italian family with Perrault syndrome 210
Type II mutation (Glu117stop) causes factor XI deficiency by inducing allele specific mRNA degradation 208
Identification of four novel polymorphisms in the Aα and γ fibrinogen genes and analysis of association with plasma levels of the protein 208
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 208
Identification of novel NSHL-causing mutations by whole exome sequencing 208
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 207
In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs 206
The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1 206
Association and functional analyses of MEF2A as a susceptibility gene for premature myocardial infarction and coronary artery disease 205
Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency 205
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years [Clinical relevance of clonal hematopoiesis in persons aged >= 80 years] 205
Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians 204
Congenital hypofibrinogenemia : characterization of two missense mutations affecting fibrinogen assembly and secretion 204
Severe factor V deficiency : exon skipping in the factor V gene causing a partial deletion of the C1 domain 201
cDNA cloning and expression of the flavoprotein D-aspartate oxidase from bovine kidney cortex 201
State of the art of rare bleeding disorders database (RBDD) 201
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis : identification of novel mutations 201
Identification of six novel mutations causing coagulation factor V deficiency 200
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis 199
Understanding genetic variation in the CFTR gene by next-generation sequencing 197
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 195
Identification by exome capture and sequencing of two novel mutations in the PRPS1 gene in Italian families with nonsyndromic sensorineural hearing loss 195
Characterization of productive and unproductive mRNA splicings in F11 : identification of a novel coagulation isoform 194
Analysis of the 16S rRNA gene sequence of the coryneform bacterium associated with hyperkeratotic dermatitis of athymic nude mice and development of a PCR-based detection assay 194
The role of the Protein Kinase C Alpha (PRKCA) gene in the predisposition to multiple sclerosis in the Italian population 193
Uniparental disomy of chromosome 4 including a novel deletion in the FGA gene that causes congenital afibrinogenemia 192
The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia 190
Mutational screening and Zebrafish functional analysis of Gigyf2 as a Parkinson-disease gene 190
Molecular genetics of quantitative fibrinogen disorders 190
Mutations leading to premature termination codons in the Von Willebrand factor gene are associated with the decay of the mutant mRNAs 190
The molecular basis of quantitative fibrinogen disorders 189
Characterization of the F11 alternative splicing pattern : identification of a novel coagulation FXI isoform 189
In-vitro expression and functional characterization of four mutations causing factor XI deficiency 186
Identification and spatial distribution of the mRNA encoding the gp49 component of the gilthead sea bream, Sparus aurata, egg envelope 186
The Protein Kinase C Alpha (PRKCA) gene is associated with multiple sclerosis in the Italian population 185
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 185
The DNA pooling technique applied to the mutational screening of human congenital afibrinogenemia : identification of 3 novel mutations 184
Response: Further thoughts on the "phantom" delta6/7 FXI isoform 184
cDNA cloning of turtle prion protein 183
The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease 183
Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy 182
A type mutation II (Glu117stop), induction of allele-specific mRNA degradation and FXI deficiency 182
Identificazione di 5 nuove mutazioni puntiformi responsabili di carenza di fattore V della coagulazione 182
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis 181
Totale 23.785
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Categoria #
all - tutte 90.047
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 90.047
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021197 0 0 0 0 0 0 0 0 0 0 0 197
2021/20222.137 195 85 78 67 113 127 205 125 274 264 127 477
2022/20232.840 316 293 244 346 341 540 106 181 277 34 100 62
2023/20242.097 90 187 134 169 482 169 123 135 62 114 190 242
2024/20254.649 197 480 132 488 354 230 193 464 281 455 365 1.010
2025/20269.289 1.001 503 1.027 695 912 608 1.140 463 858 781 1.014 287
Totale 34.725