IRIS
DUGA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 13.026
AS - Asia 7.448
EU - Europa 2.594
SA - Sud America 1.322
AF - Africa 456
Continente sconosciuto - Info sul continente non disponibili 185
OC - Oceania 12
AN - Antartide 1
Totale 25.044
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Nazione #
US - Stati Uniti d'America 12.761
SG - Singapore 4.542
CN - Cina 1.333
BR - Brasile 1.076
VN - Vietnam 695
IT - Italia 636
FI - Finlandia 449
IE - Irlanda 342
NG - Nigeria 317
DE - Germania 253
HK - Hong Kong 249
FR - Francia 205
GB - Regno Unito 161
CA - Canada 144
NL - Olanda 126
IN - India 102
AR - Argentina 94
SE - Svezia 92
BD - Bangladesh 75
MX - Messico 65
IQ - Iraq 62
RU - Federazione Russa 57
TR - Turchia 50
ZA - Sudafrica 48
IL - Israele 45
BE - Belgio 40
CO - Colombia 40
PL - Polonia 37
ID - Indonesia 34
PK - Pakistan 34
UA - Ucraina 33
JP - Giappone 30
EC - Ecuador 29
CL - Cile 28
ES - Italia 27
PH - Filippine 23
MA - Marocco 22
RO - Romania 19
UZ - Uzbekistan 17
VE - Venezuela 17
NP - Nepal 16
AE - Emirati Arabi Uniti 15
CH - Svizzera 15
JM - Giamaica 15
MY - Malesia 15
TN - Tunisia 15
KE - Kenya 14
DZ - Algeria 13
PY - Paraguay 13
CZ - Repubblica Ceca 12
PE - Perù 12
PT - Portogallo 12
SA - Arabia Saudita 12
JO - Giordania 11
AU - Australia 10
AZ - Azerbaigian 10
EG - Egitto 10
IR - Iran 10
KR - Corea 10
AT - Austria 9
DO - Repubblica Dominicana 9
LB - Libano 9
RS - Serbia 9
BO - Bolivia 8
NO - Norvegia 8
KG - Kirghizistan 7
KZ - Kazakistan 7
BG - Bulgaria 6
GR - Grecia 6
MD - Moldavia 5
QA - Qatar 5
TT - Trinidad e Tobago 5
AL - Albania 4
BH - Bahrain 4
EU - Europa 4
HN - Honduras 4
HU - Ungheria 4
LT - Lituania 4
PR - Porto Rico 4
SY - Repubblica araba siriana 4
UY - Uruguay 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AM - Armenia 3
BS - Bahamas 3
BY - Bielorussia 3
CR - Costa Rica 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
BB - Barbados 2
CI - Costa d'Avorio 2
DK - Danimarca 2
EE - Estonia 2
GE - Georgia 2
Totale 24.830
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Città #
Singapore 2.103
Wilmington 1.629
Chandler 1.580
Ashburn 694
San Mateo 686
The Dalles 676
Shanghai 604
San Jose 472
Ann Arbor 462
Dallas 453
Helsinki 445
New York 374
Council Bluffs 345
Dublin 339
Beijing 323
Benin City 314
Leawood 305
Princeton 303
Lawrence 291
Boardman 274
Hong Kong 239
Milan 216
Ho Chi Minh City 211
Hanoi 167
Paris 164
Woodbridge 157
Santa Clara 142
Fairfield 138
Los Angeles 131
Amsterdam 107
São Paulo 84
Columbus 79
London 72
Rome 71
Toronto 66
Seattle 61
San Diego 53
Buffalo 51
Falkenstein 47
Phoenix 46
Norwalk 45
Orem 43
Brussels 39
Da Nang 35
Abbiategrasso 32
Charlotte 30
Warsaw 30
Belo Horizonte 29
Brooklyn 29
Rio de Janeiro 29
Chicago 28
Figino 28
Houston 28
Haiphong 25
Johannesburg 25
Montreal 25
Chennai 24
Naples 24
Miami 23
Curitiba 22
Kocaeli 21
Tokyo 20
Brasília 19
Falls Church 19
Mexico City 19
Frankfurt am Main 18
Moscow 18
Baghdad 17
Biên Hòa 17
Hải Dương 17
San Francisco 17
Tashkent 17
Boston 16
Manchester 16
Atlanta 15
Dhaka 15
Mumbai 15
Cape Town 14
Guangzhou 14
Salvador 14
Santo André 14
Sittingbourne 14
Denver 13
Munich 13
Nairobi 13
Stockholm 13
Las Vegas 12
Monmouth Junction 12
Zurich 12
Amman 11
Des Moines 11
Erbil 11
Jakarta 11
Newark 11
Quito 11
Redmond 11
Bogotá 10
Cleveland 10
Hillsboro 10
Istanbul 10
Totale 16.138
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Nome #
Esistenza di almeno un quarto locus per l’ADNFLE 202
Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript 167
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains 151
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients 146
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 145
MEDTEC Students against Coronavirus: Investigating the Role of Hemostatic Genes in the Predisposition to COVID-19 Severity 145
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 141
A Frequent Oligogenic Involvement in Congenital Hypothyroidism 141
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients 139
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 138
Glucocerebrosidase mutations in primary parkinsonism 137
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 136
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 135
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 132
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships 131
Exploring the global landscape of genetic variation in coagulation factor XI deficiency 131
SER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population 130
Tumor-derived prostaglandin E2 promotes p50 NF-κB-dependent differentiation of monocytic MDSC 130
Congenital factor XI deficiency: an update. 129
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 128
In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs 125
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 125
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels 124
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 123
DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease 120
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 120
Mapping the human genetic architecture of COVID-19 120
A new exon in the 5’ untranslated region of bovine Connexin32 gene 119
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 119
Characterization of miR-634, a microRNA potentially relevant for multiple sclerosis 119
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 118
Not only cancer: The long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis 118
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. 117
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 116
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 115
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 114
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 113
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 113
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 113
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years 113
A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza 112
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia 112
The double-faced association of the PRKCA gene with multiple sclerosis 111
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 111
Genetic diagnosis of haemophilia and other inherited bleeding disorders 111
The molecular basis of quantitative fibrinogen disorders 110
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 110
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 109
DNAJC12 and dopa-responsive nonprogressive parkinsonism 108
Common variants in the hemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population 107
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 107
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency 107
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe FV deficiency 106
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease 106
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 105
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 104
Factor XI gene mutations in factor XI deficient patients of the Czech Republic 103
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters 103
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 102
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia 101
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 101
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies 101
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 100
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 100
Inactivating mutations in NPC1L1 and protection from coronary heart disease 100
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 98
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on fibrinogen gamma-module 98
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 98
Coagulation factor V 96
Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations 96
Molecular genetics of quantitative fibrinogen disorders 96
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 96
The spectrum of FXI deficiency in Italy 95
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 95
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 95
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 94
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 93
Molecular characterization of two novel mutations causing factor XI deficiency : a splicing defect and a missense mutation responsible for a CRM+ defect 93
miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA 93
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. 92
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients 92
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency 92
Recessively inherited coagulation disorders 91
Meta-analysis of Multiple Sclerosis microarray data reveals dysregulation in RNA splicing regulatory genes 91
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 91
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis 91
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 90
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain 90
Inherited defects of coagulation factor V: the hemorrhagic side 90
Afibrinogenemia congenita: l’identificazione di una mutazione missense nell’esone 7 del gene per il beta fibrinogeno suggerisce un ruolo del D-domain nell’assemblaggio della proteina 90
Afibrinogenemia: un possibile modello per lo studio dei meccanismi responsabili del controllo della sintesi, dell'assemblaggio e della secrezione del fibrinogeno nella specie umana 89
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease 89
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease 89
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 89
Functional and clinical implications of genetic structure in 1686 Italian exomes 89
Characterization of the genetic basis of FXI deficiency in two Turkish patients 88
Identificazione della prima mutazione che causa un’alterazione dello splicing dell’mRNA per la catena gamma del fibrinogeno umano in un caso di afibrinogenemia 88
Retrospective/prospective evaluation of dysfibrinogenemic patients IN a single centRE: correlation between clinical features and phenotypical/molecular laboratory findings 88
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 88
Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency 87
Totale 11.065
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Categoria #
all - tutte 160.745
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 160.745
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.473 0 29 29 342 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
2026/20271.307 643 664 0 0 0 0 0 0 0 0 0 0
Totale 25.044