IRIS
DUGA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 10.440
AS - Asia 4.404
EU - Europa 2.008
SA - Sud America 1.168
AF - Africa 398
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 7
AN - Antartide 1
Totale 18.433
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Nazione #
US - Stati Uniti d'America 10.281
SG - Singapore 2.639
CN - Cina 1.016
BR - Brasile 998
FI - Finlandia 444
IE - Irlanda 338
NG - Nigeria 315
IT - Italia 281
DE - Germania 206
HK - Hong Kong 188
VN - Vietnam 171
FR - Francia 163
GB - Regno Unito 129
NL - Olanda 118
CA - Canada 97
SE - Svezia 90
AR - Argentina 68
IN - India 47
BD - Bangladesh 46
RU - Federazione Russa 43
MX - Messico 40
IL - Israele 39
BE - Belgio 38
IQ - Iraq 37
TR - Turchia 34
ZA - Sudafrica 33
EC - Ecuador 26
ID - Indonesia 26
JP - Giappone 24
PL - Polonia 23
UA - Ucraina 20
PK - Pakistan 18
CO - Colombia 17
MA - Marocco 17
CL - Cile 16
UZ - Uzbekistan 15
ES - Italia 14
CH - Svizzera 13
RO - Romania 13
VE - Venezuela 13
AE - Emirati Arabi Uniti 10
CZ - Repubblica Ceca 10
IR - Iran 10
PE - Perù 10
PY - Paraguay 10
NP - Nepal 9
TN - Tunisia 9
AT - Austria 8
EG - Egitto 8
PH - Filippine 8
SA - Arabia Saudita 8
AZ - Azerbaigian 7
JO - Giordania 7
KE - Kenya 7
KG - Kirghizistan 7
KR - Corea 7
NO - Norvegia 7
BG - Bulgaria 6
DO - Repubblica Dominicana 6
GR - Grecia 6
KZ - Kazakistan 6
AU - Australia 5
BO - Bolivia 5
LB - Libano 5
PT - Portogallo 5
RS - Serbia 5
EU - Europa 4
JM - Giamaica 4
MD - Moldavia 4
MY - Malesia 4
UY - Uruguay 4
A2 - ???statistics.table.value.countryCode.A2??? 3
AM - Armenia 3
HU - Ungheria 3
LT - Lituania 3
PA - Panama 3
SK - Slovacchia (Repubblica Slovacca) 3
AL - Albania 2
BH - Bahrain 2
DK - Danimarca 2
DZ - Algeria 2
EE - Estonia 2
ET - Etiopia 2
GE - Georgia 2
HN - Honduras 2
KI - Kiribati 2
LV - Lettonia 2
NI - Nicaragua 2
SN - Senegal 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
TW - Taiwan 2
AQ - Antartide 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BW - Botswana 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
GI - Gibilterra 1
GY - Guiana 1
Totale 18.421
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Città #
Wilmington 1.624
Chandler 1.580
Singapore 866
San Mateo 686
The Dalles 658
Shanghai 601
Ann Arbor 462
Helsinki 440
Dallas 425
Dublin 336
New York 315
Benin City 314
Leawood 305
Ashburn 292
Lawrence 291
Princeton 291
Boardman 274
Beijing 228
Hong Kong 188
Paris 155
Woodbridge 153
Fairfield 137
Amsterdam 103
Milan 80
São Paulo 78
Columbus 73
Los Angeles 64
London 62
Ho Chi Minh City 60
Toronto 58
Seattle 54
Santa Clara 51
San Diego 50
Norwalk 45
Brussels 37
Council Bluffs 33
Hanoi 33
Abbiategrasso 32
Phoenix 31
Rio de Janeiro 28
Belo Horizonte 27
Brooklyn 25
Curitiba 21
Kocaeli 21
Falkenstein 19
Brasília 18
Falls Church 18
Moscow 18
Tokyo 18
Warsaw 18
Johannesburg 16
Boston 15
Montreal 15
San Francisco 15
Tashkent 15
Naples 14
Sittingbourne 14
Orem 13
Charlotte 12
Chicago 12
Guangzhou 12
Monmouth Junction 12
Munich 12
Salvador 12
Santo André 12
Stockholm 12
Denver 11
Des Moines 11
Houston 11
Redmond 11
Cape Town 10
Osasco 10
Porto Alegre 10
Quito 10
Zurich 10
Baghdad 9
Chennai 9
Dhaka 9
Erbil 9
Goiânia 9
Jakarta 9
Maceió 9
Pune 9
Atlanta 8
Biên Hòa 8
Bogotá 8
Campinas 8
Da Nang 8
Florianópolis 8
Mexico City 8
Mumbai 8
São Bernardo do Campo 8
Uberlândia 8
Zhengzhou 8
Amman 7
Andover 7
Caxias do Sul 7
Frankfurt am Main 7
Hanover 7
Manchester 7
Totale 12.305
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Nome #
Esistenza di almeno un quarto locus per l’ADNFLE 187
Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript 132
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 121
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 112
Glucocerebrosidase mutations in primary parkinsonism 109
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 107
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships 107
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains 106
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients 106
SER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population 105
A Frequent Oligogenic Involvement in Congenital Hypothyroidism 105
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 104
In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs 103
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 99
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 98
Characterization of miR-634, a microRNA potentially relevant for multiple sclerosis 98
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 97
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients 96
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 96
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 96
A new exon in the 5’ untranslated region of bovine Connexin32 gene 94
Congenital factor XI deficiency: an update. 92
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 92
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 92
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 92
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. 91
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 91
MEDTEC Students against Coronavirus: Investigating the Role of Hemostatic Genes in the Predisposition to COVID-19 Severity 91
A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza 89
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 89
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 89
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 88
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 87
Exploring the global landscape of genetic variation in coagulation factor XI deficiency 87
Tumor-derived prostaglandin E2 promotes p50 NF-κB-dependent differentiation of monocytic MDSC 86
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia 85
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease 84
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 84
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 84
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 83
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 83
The double-faced association of the PRKCA gene with multiple sclerosis 83
Genetic diagnosis of haemophilia and other inherited bleeding disorders 83
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 82
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe FV deficiency 80
DNAJC12 and dopa-responsive nonprogressive parkinsonism 80
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 79
Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations 79
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 79
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia 79
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 79
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years 79
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 78
Afibrinogenemia: un possibile modello per lo studio dei meccanismi responsabili del controllo della sintesi, dell'assemblaggio e della secrezione del fibrinogeno nella specie umana 78
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 78
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 78
The molecular basis of quantitative fibrinogen disorders 77
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 77
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency 76
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 76
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 75
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 75
Mapping the human genetic architecture of COVID-19 75
The spectrum of FXI deficiency in Italy 73
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 73
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 73
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 73
Identification and characterization of 6 novel genetic defects leading to factor V deficiency 73
Not only cancer: The long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis 73
Common variants in the hemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population 72
Characterization of the genetic basis of FXI deficiency in two Turkish patients 72
Identificazione della prima mutazione che causa un’alterazione dello splicing dell’mRNA per la catena gamma del fibrinogeno umano in un caso di afibrinogenemia 72
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation 72
Meta-analysis of Multiple Sclerosis microarray data reveals dysregulation in RNA splicing regulatory genes 72
Molecular genetics of quantitative fibrinogen disorders 71
Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease 71
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis 71
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 70
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain 70
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 70
DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease 69
Response: Further thoughts on the "phantom" delta6/7 FXI isoform 69
Recessively inherited coagulation disorders 69
Alterations of mRNA processing and stability as pathogenic mechanism in von willebrand factor quantitative deficiencies 69
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease 69
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels 69
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 69
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies 69
Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions 68
Mutations in disguise 68
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. 68
Eterogeneità allelica della carenza grave di fattore V della coagulazione: ampliamento dello spettro mutazionale ed espressione delle mutazioni missense identificate 68
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters 68
miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA 68
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene 67
L-aspartate oxidase from Escherichia coli. I. Characterization of coenzyme binding and product inhibition 67
Congenital afibrinogenemia caused by uniparental isodisomy of chromosome 4 containing a 15-kb deletion involving fibrinogen Aalpha-chain gene 67
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 67
Physical mapping of connexin 32 (GJB1) and 43 (GJA1) genes to bovine chromosomes Xq22 and 9q15/16 by fluorescence in situ hybridization 66
Molecular characterization of six novel mutations causing factor V deficiency 66
Totale 8.343
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Categoria #
all - tutte 140.327
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 140.327
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212.958 0 0 0 0 0 935 463 231 591 340 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
2025/20263.507 1.267 469 525 759 299 188 0 0 0 0 0 0
Totale 18.609