IRIS
DUGA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 14.827
AS - Asia 7.516
EU - Europa 2.643
SA - Sud America 1.343
AF - Africa 456
Continente sconosciuto - Info sul continente non disponibili 187
OC - Oceania 12
AN - Antartide 1
Totale 26.985
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Nazione #
US - Stati Uniti d'America 14.499
SG - Singapore 4.572
CN - Cina 1.345
BR - Brasile 1.088
VN - Vietnam 695
IT - Italia 657
FI - Finlandia 449
IE - Irlanda 343
NG - Nigeria 317
DE - Germania 256
HK - Hong Kong 256
FR - Francia 208
GB - Regno Unito 178
CA - Canada 172
NL - Olanda 127
IN - India 104
AR - Argentina 95
SE - Svezia 92
BD - Bangladesh 77
MX - Messico 67
IQ - Iraq 62
RU - Federazione Russa 57
TR - Turchia 50
ZA - Sudafrica 48
IL - Israele 45
CO - Colombia 44
BE - Belgio 41
PL - Polonia 37
ID - Indonesia 35
JP - Giappone 34
PK - Pakistan 34
UA - Ucraina 33
EC - Ecuador 30
CL - Cile 28
ES - Italia 27
PH - Filippine 26
MA - Marocco 22
VE - Venezuela 20
JM - Giamaica 19
RO - Romania 19
AE - Emirati Arabi Uniti 17
UZ - Uzbekistan 17
NP - Nepal 16
CH - Svizzera 15
MY - Malesia 15
TN - Tunisia 15
KE - Kenya 14
SA - Arabia Saudita 14
DZ - Algeria 13
PY - Paraguay 13
CZ - Repubblica Ceca 12
PE - Perù 12
PT - Portogallo 12
AZ - Azerbaigian 11
JO - Giordania 11
KR - Corea 11
AU - Australia 10
CR - Costa Rica 10
EG - Egitto 10
IR - Iran 10
AT - Austria 9
DO - Repubblica Dominicana 9
LB - Libano 9
RS - Serbia 9
BO - Bolivia 8
GT - Guatemala 8
NO - Norvegia 8
KG - Kirghizistan 7
KZ - Kazakistan 7
NI - Nicaragua 7
BG - Bulgaria 6
GR - Grecia 6
AL - Albania 5
BH - Bahrain 5
BS - Bahamas 5
HN - Honduras 5
MD - Moldavia 5
PR - Porto Rico 5
QA - Qatar 5
TT - Trinidad e Tobago 5
EU - Europa 4
HU - Ungheria 4
LT - Lituania 4
SV - El Salvador 4
SY - Repubblica araba siriana 4
UY - Uruguay 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AM - Armenia 3
BB - Barbados 3
BY - Bielorussia 3
DK - Danimarca 3
ET - Etiopia 3
HR - Croazia 3
LV - Lettonia 3
LY - Libia 3
OM - Oman 3
PA - Panama 3
SK - Slovacchia (Repubblica Slovacca) 3
SN - Senegal 3
TH - Thailandia 3
Totale 26.765
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Città #
Singapore 2.111
Wilmington 1.630
Chandler 1.582
Ashburn 961
San Mateo 686
The Dalles 676
San Jose 613
Shanghai 604
Ann Arbor 462
Dallas 460
Helsinki 445
New York 383
Council Bluffs 346
Dublin 340
Beijing 328
Princeton 315
Benin City 314
Leawood 305
Lawrence 293
Boardman 275
Hong Kong 242
Milan 219
Ho Chi Minh City 211
Santa Clara 179
Hanoi 167
Los Angeles 164
Paris 164
Woodbridge 157
Fairfield 139
Amsterdam 108
Phoenix 94
São Paulo 94
Columbus 87
Toronto 74
London 73
Rome 72
Seattle 61
San Diego 60
Buffalo 56
Chicago 50
Falkenstein 47
Norwalk 46
Orem 43
Brussels 40
Brooklyn 39
Da Nang 35
Houston 34
Abbiategrasso 32
Charlotte 32
Montreal 32
Warsaw 30
Belo Horizonte 29
Rio de Janeiro 29
Atlanta 28
Figino 28
Miami 28
Naples 28
Haiphong 25
Johannesburg 25
Chennai 24
Queens 23
Curitiba 22
Tokyo 22
Kocaeli 21
San Francisco 21
Brasília 20
Mexico City 20
Boston 19
Falls Church 19
Frankfurt am Main 19
Las Vegas 18
Moscow 18
Baghdad 17
Biên Hòa 17
Hải Dương 17
Tashkent 17
Denver 16
Jacksonville 16
Manchester 16
Philadelphia 16
Dhaka 15
Mumbai 15
San Antonio 15
Cape Town 14
Cleveland 14
Guangzhou 14
Newark 14
Salvador 14
Santo André 14
Sittingbourne 14
Munich 13
Nairobi 13
Stockholm 13
Monmouth Junction 12
Pittsburgh 12
Quito 12
Saint Paul 12
Turin 12
Zurich 12
Amman 11
Totale 16.893
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Nome #
Esistenza di almeno un quarto locus per l’ADNFLE 206
Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript 170
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains 160
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients 154
MEDTEC Students against Coronavirus: Investigating the Role of Hemostatic Genes in the Predisposition to COVID-19 Severity 151
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 150
Glucocerebrosidase mutations in primary parkinsonism 147
Tumor-derived prostaglandin E2 promotes p50 NF-κB-dependent differentiation of monocytic MDSC 147
A Frequent Oligogenic Involvement in Congenital Hypothyroidism 146
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients 145
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 145
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 143
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 143
DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease 140
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 140
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 138
Characterization of miR-634, a microRNA potentially relevant for multiple sclerosis 138
SER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population 137
Exploring the global landscape of genetic variation in coagulation factor XI deficiency 137
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 134
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships 134
Congenital factor XI deficiency: an update. 133
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels 133
In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs 132
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 131
Mapping the human genetic architecture of COVID-19 129
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 128
Not only cancer: The long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis 127
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 126
A new exon in the 5’ untranslated region of bovine Connexin32 gene 125
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 125
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 125
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 124
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. 123
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 121
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 121
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 120
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia 119
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 119
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years 119
A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza 118
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 118
Genetic diagnosis of haemophilia and other inherited bleeding disorders 118
The molecular basis of quantitative fibrinogen disorders 116
The double-faced association of the PRKCA gene with multiple sclerosis 116
Common variants in the hemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population 115
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency 115
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 115
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 115
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease 114
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 113
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe FV deficiency 112
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters 112
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 112
Factor XI gene mutations in factor XI deficient patients of the Czech Republic 111
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 111
DNAJC12 and dopa-responsive nonprogressive parkinsonism 111
Inactivating mutations in NPC1L1 and protection from coronary heart disease 111
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia 110
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 109
LIQUID BIOPSY BY PROSTATE-DERIVED TUMOR CELLS ENRICHED FROM SEMINAL FLUID (SF): THE SEMEN PROSTATE CANCER TUMOR ELEMENTS (SPECTRE) PROJECT. 109
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 109
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 107
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 107
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 107
Retrospective/prospective evaluation of dysfibrinogenemic patients IN a single centRE: correlation between clinical features and phenotypical/molecular laboratory findings 107
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies 107
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on fibrinogen gamma-module 106
Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation 104
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 104
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 103
Molecular genetics of quantitative fibrinogen disorders 102
Studio della regolazione dell’espressione del gene della catena gamma del fibrinogeno umano 102
Afibrinogenemia: identificazione di cinque nuove mutazioni nel gene FGB 102
Coagulation factor V 101
First histopathological characterization of the liver of an afibrinogenemic patient: the Leu353Arg mutation in the Bbeta-chain gene is not associated with hepatic endoplasmic reticulum storage 101
Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations 100
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. 100
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 100
Molecular characterization of two novel mutations causing factor XI deficiency : a splicing defect and a missense mutation responsible for a CRM+ defect 100
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 100
Functional analysis of missense mutations in the Myocyte Enhancer Factor 2A (MEF2A) gene do not support their causal role in the pathogenesis of myocardial infarction 100
A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants 100
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 99
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 99
miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA 99
A novel mutation within the MIR96 gene causes nonsyndromic inherited hearing loss in an Italian family by altering pre-microRNA processing to its mature forms 99
The spectrum of FXI deficiency in Italy 98
Meta-analysis of Multiple Sclerosis microarray data reveals dysregulation in RNA splicing regulatory genes 98
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients 97
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency 97
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease 97
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 97
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis 97
Inherited defects of coagulation factor V: the hemorrhagic side 96
Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA 96
Caratterizzazione strutturale e funzionale del gene per la catena gamma del fibrinogeno umano 96
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 95
Recessively inherited coagulation disorders 95
The Protein Kinase C Alpha (PRKCA) gene is associated with multiple sclerosis in the Italian population 95
Totale 11.785
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Categoria #
all - tutte 169.926
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 169.926
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.415 0 0 0 342 22 22 77 228 145 152 325 102
2022/20234.241 660 166 389 492 415 337 4 340 738 340 299 61
2023/20242.372 177 237 451 106 84 316 123 178 33 36 258 373
2024/20253.868 129 160 82 111 168 486 171 362 418 821 507 453
2025/20268.635 1.267 469 525 759 299 357 2.546 465 536 514 348 550
2026/20273.248 643 735 1.309 561 0 0 0 0 0 0 0 0
Totale 26.985