IRIS
DUGA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 11.327
AS - Asia 7.178
EU - Europa 2.260
SA - Sud America 1.302
AF - Africa 453
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 7
AN - Antartide 1
Totale 22.540
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Nazione #
US - Stati Uniti d'America 11.125
SG - Singapore 4.461
CN - Cina 1.194
BR - Brasile 1.069
VN - Vietnam 682
FI - Finlandia 449
IE - Irlanda 341
IT - Italia 325
NG - Nigeria 317
DE - Germania 252
HK - Hong Kong 232
FR - Francia 201
GB - Regno Unito 161
NL - Olanda 125
CA - Canada 113
IN - India 102
AR - Argentina 94
SE - Svezia 91
BD - Bangladesh 67
IQ - Iraq 62
RU - Federazione Russa 57
MX - Messico 56
TR - Turchia 49
ZA - Sudafrica 47
IL - Israele 45
BE - Belgio 39
PL - Polonia 35
ID - Indonesia 34
UA - Ucraina 33
PK - Pakistan 32
CO - Colombia 31
JP - Giappone 30
EC - Ecuador 29
CL - Cile 24
ES - Italia 23
PH - Filippine 23
MA - Marocco 22
RO - Romania 18
UZ - Uzbekistan 17
VE - Venezuela 17
CH - Svizzera 15
TN - Tunisia 15
AE - Emirati Arabi Uniti 14
KE - Kenya 14
NP - Nepal 14
DZ - Algeria 13
MY - Malesia 13
PY - Paraguay 13
PE - Perù 12
SA - Arabia Saudita 12
CZ - Repubblica Ceca 11
JO - Giordania 11
AU - Australia 10
AZ - Azerbaigian 10
EG - Egitto 10
IR - Iran 10
AT - Austria 9
DO - Repubblica Dominicana 9
LB - Libano 9
PT - Portogallo 9
BO - Bolivia 8
RS - Serbia 8
KG - Kirghizistan 7
KR - Corea 7
KZ - Kazakistan 7
NO - Norvegia 7
BG - Bulgaria 6
GR - Grecia 6
JM - Giamaica 5
MD - Moldavia 5
QA - Qatar 5
AL - Albania 4
BH - Bahrain 4
EU - Europa 4
HU - Ungheria 4
LT - Lituania 4
SY - Repubblica araba siriana 4
TT - Trinidad e Tobago 4
UY - Uruguay 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AM - Armenia 3
BY - Bielorussia 3
ET - Etiopia 3
HN - Honduras 3
HR - Croazia 3
LV - Lettonia 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
KH - Cambogia 2
KI - Kiribati 2
LK - Sri Lanka 2
NI - Nicaragua 2
Totale 22.514
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Città #
Singapore 2.085
Wilmington 1.624
Chandler 1.580
San Mateo 686
The Dalles 676
Shanghai 601
Ashburn 596
Ann Arbor 462
Helsinki 445
Dallas 426
San Jose 365
Dublin 339
New York 323
Benin City 314
Leawood 305
Lawrence 291
Princeton 291
Beijing 280
Boardman 274
Hong Kong 222
Ho Chi Minh City 207
Paris 164
Hanoi 162
Woodbridge 153
Fairfield 137
Amsterdam 107
Milan 86
São Paulo 84
Los Angeles 74
Columbus 73
London 72
Santa Clara 65
Toronto 61
Seattle 55
San Diego 50
Falkenstein 47
Norwalk 45
Orem 41
Brussels 38
Council Bluffs 36
Da Nang 35
Abbiategrasso 32
Phoenix 32
Belo Horizonte 29
Rio de Janeiro 29
Warsaw 28
Brooklyn 25
Haiphong 25
Johannesburg 25
Chennai 24
Montreal 23
Curitiba 22
Kocaeli 21
Tokyo 20
Brasília 19
Falls Church 18
Moscow 18
Baghdad 17
Biên Hòa 17
Frankfurt am Main 17
Hải Dương 17
Tashkent 17
Boston 16
Manchester 16
Houston 15
Mumbai 15
Naples 15
San Francisco 15
Charlotte 14
Dhaka 14
Salvador 14
Santo André 14
Sittingbourne 14
Cape Town 13
Chicago 13
Guangzhou 13
Munich 13
Nairobi 13
Stockholm 13
Monmouth Junction 12
Rome 12
Zurich 12
Amman 11
Denver 11
Des Moines 11
Erbil 11
Jakarta 11
Mexico City 11
Quito 11
Redmond 11
Bogotá 10
New Delhi 10
Osasco 10
Porto Alegre 10
Vũng Tàu 10
Buenos Aires 9
Campinas 9
Goiânia 9
Hillsboro 9
Istanbul 9
Totale 14.911
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Nome #
Esistenza di almeno un quarto locus per l’ADNFLE 198
Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript 147
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients 136
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 136
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains 134
Glucocerebrosidase mutations in primary parkinsonism 131
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients 130
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 128
SER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population 126
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 124
A Frequent Oligogenic Involvement in Congenital Hypothyroidism 123
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 122
MEDTEC Students against Coronavirus: Investigating the Role of Hemostatic Genes in the Predisposition to COVID-19 Severity 121
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships 120
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 120
In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs 116
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 116
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 116
Characterization of miR-634, a microRNA potentially relevant for multiple sclerosis 114
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 113
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 112
A new exon in the 5’ untranslated region of bovine Connexin32 gene 111
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 111
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. 110
Tumor-derived prostaglandin E2 promotes p50 NF-κB-dependent differentiation of monocytic MDSC 110
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 110
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 110
Congenital factor XI deficiency: an update. 109
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 108
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 108
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 106
Exploring the global landscape of genetic variation in coagulation factor XI deficiency 106
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 106
A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza 105
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 105
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 104
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 103
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe FV deficiency 102
The double-faced association of the PRKCA gene with multiple sclerosis 102
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 101
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 101
DNAJC12 and dopa-responsive nonprogressive parkinsonism 101
Genetic diagnosis of haemophilia and other inherited bleeding disorders 101
The molecular basis of quantitative fibrinogen disorders 100
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 99
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease 99
Common variants in the hemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population 98
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 98
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 97
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 97
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia 97
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 97
Factor XI gene mutations in factor XI deficient patients of the Czech Republic 96
DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease 95
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years 95
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia 94
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 94
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency 92
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 92
Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations 90
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 89
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters 89
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels 89
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies 89
Mapping the human genetic architecture of COVID-19 88
The spectrum of FXI deficiency in Italy 87
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 87
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. 87
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 87
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 87
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 87
Afibrinogenemia: un possibile modello per lo studio dei meccanismi responsabili del controllo della sintesi, dell'assemblaggio e della secrezione del fibrinogeno nella specie umana 87
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on fibrinogen gamma-module 87
Meta-analysis of Multiple Sclerosis microarray data reveals dysregulation in RNA splicing regulatory genes 87
Not only cancer: The long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis 86
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 86
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 85
Coagulation factor V 85
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 85
Response: Further thoughts on the "phantom" delta6/7 FXI isoform 84
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 84
Characterization of the genetic basis of FXI deficiency in two Turkish patients 84
Identificazione della prima mutazione che causa un’alterazione dello splicing dell’mRNA per la catena gamma del fibrinogeno umano in un caso di afibrinogenemia 84
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis 84
Inactivating mutations in NPC1L1 and protection from coronary heart disease 84
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 84
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain 83
Recessively inherited coagulation disorders 83
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene 83
L-aspartate oxidase from Escherichia coli. I. Characterization of coenzyme binding and product inhibition 83
Identification and characterization of 6 novel genetic defects leading to factor V deficiency 83
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 83
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy 82
Molecular genetics of quantitative fibrinogen disorders 82
Molecular characterization of two novel mutations causing factor XI deficiency : a splicing defect and a missense mutation responsible for a CRM+ defect 82
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency 82
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 82
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 82
Inherited defects of coagulation factor V: the hemorrhagic side 81
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients 81
Totale 10.037
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Categoria #
all - tutte 147.262
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 147.262
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021738 0 0 0 0 0 0 0 0 0 340 28 370
2021/20221.511 38 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
2025/20267.614 1.267 469 525 759 299 357 2.546 465 536 391 0 0
Totale 22.716