IRIS
DUGA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 11.875
AS - Asia 7.383
EU - Europa 2.271
SA - Sud America 1.303
AF - Africa 456
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 7
AN - Antartide 1
Totale 23.308
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Nazione #
US - Stati Uniti d'America 11.639
SG - Singapore 4.530
CN - Cina 1.301
BR - Brasile 1.069
VN - Vietnam 683
FI - Finlandia 449
IE - Irlanda 341
IT - Italia 334
NG - Nigeria 317
DE - Germania 252
HK - Hong Kong 245
FR - Francia 202
GB - Regno Unito 161
CA - Canada 126
NL - Olanda 126
IN - India 102
AR - Argentina 94
SE - Svezia 91
BD - Bangladesh 72
MX - Messico 65
IQ - Iraq 62
RU - Federazione Russa 57
TR - Turchia 50
ZA - Sudafrica 48
IL - Israele 45
BE - Belgio 39
PL - Polonia 35
ID - Indonesia 34
PK - Pakistan 33
UA - Ucraina 33
CO - Colombia 32
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
NP - Nepal 16
AE - Emirati Arabi Uniti 15
CH - Svizzera 15
TN - Tunisia 15
KE - Kenya 14
MY - Malesia 14
DZ - Algeria 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
JM - Giamaica 10
KR - Corea 10
AT - Austria 9
DO - Repubblica Dominicana 9
LB - Libano 9
PT - Portogallo 9
BO - Bolivia 8
RS - Serbia 8
KG - Kirghizistan 7
KZ - Kazakistan 7
NO - Norvegia 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
HU - Ungheria 4
LT - Lituania 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
ET - Etiopia 3
HN - Honduras 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
CR - Costa Rica 2
DK - Danimarca 2
EE - Estonia 2
GE - Georgia 2
KH - Cambogia 2
Totale 23.275
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Città #
Singapore 2.096
Wilmington 1.624
Chandler 1.580
San Mateo 686
The Dalles 676
Ashburn 659
Shanghai 604
San Jose 467
Ann Arbor 462
Helsinki 445
Dallas 440
New York 358
Dublin 339
Benin City 314
Beijing 306
Leawood 305
Lawrence 291
Princeton 291
Boardman 274
Hong Kong 235
Ho Chi Minh City 207
Paris 164
Hanoi 163
Woodbridge 153
Fairfield 137
Los Angeles 112
Santa Clara 109
Amsterdam 107
Milan 86
São Paulo 84
Columbus 73
London 72
Toronto 64
Seattle 58
San Diego 50
Falkenstein 47
Norwalk 45
Orem 42
Buffalo 41
Brussels 38
Council Bluffs 36
Da Nang 35
Phoenix 34
Abbiategrasso 32
Belo Horizonte 29
Rio de Janeiro 29
Warsaw 28
Brooklyn 27
Haiphong 25
Johannesburg 25
Montreal 25
Chennai 24
Charlotte 23
Curitiba 22
Kocaeli 21
Chicago 20
Tokyo 20
Brasília 19
Mexico City 19
Falls Church 18
Moscow 18
Baghdad 17
Biên Hòa 17
Frankfurt am Main 17
Houston 17
Hải Dương 17
Tashkent 17
Boston 16
Manchester 16
Mumbai 15
Naples 15
San Francisco 15
Cape Town 14
Dhaka 14
Guangzhou 14
Salvador 14
Santo André 14
Sittingbourne 14
Munich 13
Nairobi 13
Rome 13
Stockholm 13
Denver 12
Monmouth Junction 12
Zurich 12
Amman 11
Des Moines 11
Erbil 11
Jakarta 11
Quito 11
Redmond 11
Atlanta 10
Bogotá 10
Hillsboro 10
Istanbul 10
New Delhi 10
Osasco 10
Porto Alegre 10
Vũng Tàu 10
Buenos Aires 9
Totale 15.339
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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 150
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains 143
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 139
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients 138
A Frequent Oligogenic Involvement in Congenital Hypothyroidism 137
MEDTEC Students against Coronavirus: Investigating the Role of Hemostatic Genes in the Predisposition to COVID-19 Severity 136
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients 134
Glucocerebrosidase mutations in primary parkinsonism 134
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 132
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 129
SER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population 128
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 128
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships 127
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 125
Exploring the global landscape of genetic variation in coagulation factor XI deficiency 124
In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs 122
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 122
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 121
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 119
Congenital factor XI deficiency: an update. 118
DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease 117
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. 115
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 115
Characterization of miR-634, a microRNA potentially relevant for multiple sclerosis 115
A new exon in the 5’ untranslated region of bovine Connexin32 gene 114
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels 114
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 113
Tumor-derived prostaglandin E2 promotes p50 NF-κB-dependent differentiation of monocytic MDSC 112
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 112
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 112
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 112
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 110
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 108
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 107
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 107
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years 107
Mapping the human genetic architecture of COVID-19 107
A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza 106
The double-faced association of the PRKCA gene with multiple sclerosis 106
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 106
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease 105
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia 104
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 104
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 104
DNAJC12 and dopa-responsive nonprogressive parkinsonism 104
Genetic diagnosis of haemophilia and other inherited bleeding disorders 104
Common variants in the hemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population 103
The molecular basis of quantitative fibrinogen disorders 103
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 103
Not only cancer: The long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis 103
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe FV deficiency 102
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 102
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 101
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 100
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 100
Factor XI gene mutations in factor XI deficient patients of the Czech Republic 99
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia 99
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency 98
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 98
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 97
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 95
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 94
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters 94
The spectrum of FXI deficiency in Italy 93
Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations 93
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on fibrinogen gamma-module 92
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 91
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies 91
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. 90
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 90
Coagulation factor V 89
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 89
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 89
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 88
Meta-analysis of Multiple Sclerosis microarray data reveals dysregulation in RNA splicing regulatory genes 88
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 87
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain 87
Recessively inherited coagulation disorders 87
Molecular genetics of quantitative fibrinogen disorders 87
Molecular characterization of two novel mutations causing factor XI deficiency : a splicing defect and a missense mutation responsible for a CRM+ defect 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
Inactivating mutations in NPC1L1 and protection from coronary heart disease 87
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients 86
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis 86
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency 86
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease 86
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 86
Inherited defects of coagulation factor V: the hemorrhagic side 85
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene 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
Rare coagulation deficiencies 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
L-aspartate oxidase from Escherichia coli. I. Characterization of coenzyme binding and product inhibition 84
Identification and characterization of 6 novel genetic defects leading to factor V deficiency 84
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease 84
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 84
Totale 10.470
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Categoria #
all - tutte 154.306
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 154.306
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021370 0 0 0 0 0 0 0 0 0 0 0 370
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
2025/20268.384 1.267 469 525 759 299 357 2.546 465 536 514 348 299
Totale 23.486