IRIS
DUGA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 8.321
EU - Europa 1.705
AS - Asia 1.304
AF - Africa 317
SA - Sud America 40
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 4
Totale 11.698
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Nazione #
US - Stati Uniti d'America 8.250
SG - Singapore 731
CN - Cina 452
FI - Finlandia 439
IE - Irlanda 335
NG - Nigeria 315
IT - Italia 210
DE - Germania 178
FR - Francia 157
NL - Olanda 102
GB - Regno Unito 89
SE - Svezia 76
CA - Canada 62
IL - Israele 38
BE - Belgio 36
BR - Brasile 23
RU - Federazione Russa 22
TR - Turchia 21
IN - India 12
RO - Romania 12
UA - Ucraina 11
IR - Iran 10
CL - Cile 9
MX - Messico 8
AT - Austria 7
JP - Giappone 7
CH - Svizzera 6
HK - Hong Kong 6
EC - Ecuador 5
AU - Australia 4
BD - Bangladesh 4
CZ - Repubblica Ceca 4
EU - Europa 4
GR - Grecia 4
A2 - ???statistics.table.value.countryCode.A2??? 3
ES - Italia 3
KR - Corea 3
NO - Norvegia 3
AE - Emirati Arabi Uniti 2
BG - Bulgaria 2
DK - Danimarca 2
EE - Estonia 2
IQ - Iraq 2
MY - Malesia 2
PE - Perù 2
PK - Pakistan 2
PT - Portogallo 2
SA - Arabia Saudita 2
TH - Thailandia 2
TW - Taiwan 2
AM - Armenia 1
AR - Argentina 1
BH - Bahrain 1
DO - Repubblica Dominicana 1
EG - Egitto 1
KZ - Kazakistan 1
MA - Marocco 1
MD - Moldavia 1
MK - Macedonia 1
OM - Oman 1
PH - Filippine 1
PL - Polonia 1
UZ - Uzbekistan 1
Totale 11.698
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Città #
Wilmington 1.624
Chandler 1.580
San Mateo 685
Ann Arbor 462
Singapore 441
Helsinki 439
Shanghai 343
Dublin 334
Benin City 314
Leawood 305
Lawrence 291
Princeton 291
Boardman 276
New York 273
Paris 154
Woodbridge 153
Fairfield 137
Ashburn 135
Amsterdam 97
London 58
Milan 57
Toronto 55
San Diego 50
Seattle 49
Norwalk 45
Beijing 39
Brussels 36
Abbiategrasso 32
Phoenix 26
Kocaeli 21
Falkenstein 19
Falls Church 18
Moscow 18
Santa Clara 18
Los Angeles 16
Sittingbourne 14
Monmouth Junction 12
Des Moines 11
Redmond 11
Guangzhou 10
Houston 9
Andover 7
Cologno Monzese 7
Frankfurt am Main 7
Hanover 7
Pune 7
Redwood City 7
Zhengzhou 7
Cambridge 6
Hong Kong 6
Tappahannock 6
Gunzenhausen 5
Henderson 5
Munich 5
Nanjing 5
Sacramento 5
Tehuacán 5
Brighton 4
Rome 4
Vienna 4
Winnipeg 4
Zurich 4
Brierley Hill 3
Brno 3
Clearwater 3
Fife 3
Mumbai 3
Ottawa 3
Quito 3
São Paulo 3
Anzio 2
Athens 2
Birmingham 2
Bolzano 2
Buffalo 2
Fishers 2
Florence 2
Hefei 2
Kuala Lumpur 2
La Canada Flintridge 2
Le Grazie 2
Lecco 2
Lima 2
Maceió 2
Marnate 2
Monza 2
Nova Milanese 2
Nuremberg 2
Padova 2
Puebla City 2
Raleigh 2
Riyadh 2
San Jose 2
Santiago 2
Seveso 2
Shenzhen 2
Sofia 2
Taipei 2
Trezzo sull'Adda 2
Wageningen 2
Totale 9.159
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Nome #
Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript 83
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 81
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains 75
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients 72
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships 72
A Frequent Oligogenic Involvement in Congenital Hypothyroidism 71
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients 70
Glucocerebrosidase mutations in primary parkinsonism 70
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 69
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 68
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease 68
SER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population 67
Congenital factor XI deficiency: an update. 66
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 64
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 63
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 63
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 62
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. 61
In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs 61
Tumor-derived prostaglandin E2 promotes p50 NF-κB-dependent differentiation of monocytic MDSC 61
A new exon in the 5’ untranslated region of bovine Connexin32 gene 60
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 60
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 60
Characterization of miR-634, a microRNA potentially relevant for multiple sclerosis 60
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe FV deficiency 59
Genetic diagnosis of haemophilia and other inherited bleeding disorders 59
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 59
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 59
The spectrum of FXI deficiency in Italy 58
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 58
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia 58
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 58
Exploring the global landscape of genetic variation in coagulation factor XI deficiency 58
A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza 57
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 57
Afibrinogenemia: un possibile modello per lo studio dei meccanismi responsabili del controllo della sintesi, dell'assemblaggio e della secrezione del fibrinogeno nella specie umana 57
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation 57
The molecular basis of quantitative fibrinogen disorders 56
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 56
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 55
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain 55
Congenital afibrinogenemia caused by uniparental isodisomy of chromosome 4 containing a 15-kb deletion involving fibrinogen Aalpha-chain gene 55
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 54
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 54
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 54
Allelic heterogeneity of severe factor V deficiency 54
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis 54
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 54
Rare coagulation deficiencies 53
Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease 53
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 53
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 53
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 53
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 52
Characterization of the genetic basis of FXI deficiency in two Turkish patients 52
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 52
The double-faced association of the PRKCA gene with multiple sclerosis 52
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 52
Retrospective evaluation of dysfibrinogenaemic patients in a single centre: clinical features and laboratory findings 52
Alternative splicing and nonsense-mediated decay in the F5 gene 52
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 52
Physical mapping of connexin 32 (GJB1) and 43 (GJA1) genes to bovine chromosomes Xq22 and 9q15/16 by fluorescence in situ hybridization 51
Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions 51
Response: Further thoughts on the "phantom" delta6/7 FXI isoform 51
Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations 51
Recessively inherited coagulation disorders 51
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 51
Molecular genetics of quantitative fibrinogen disorders 51
Eterogeneità allelica della carenza grave di fattore V della coagulazione: ampliamento dello spettro mutazionale ed espressione delle mutazioni missense identificate 51
Disomia uniparentale del cromosoma 4 contenente una nuova delezione nel gene FGA come causa di afibrinogenemia congenita 51
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 51
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 51
Mutations in disguise 50
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. 50
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 50
Alterations of mRNA processing and stability as pathogenic mechanism in von willebrand factor quantitative deficiencies 50
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 50
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 50
Common variants in the hemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population 49
Molecular characterization of six novel mutations causing factor V deficiency 49
DNAJC12 and dopa-responsive nonprogressive parkinsonism 49
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease 49
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels 49
Factor V Leiden is associated with premature myocardial infarction 48
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 48
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years 48
cDNA cloning of turtle prion protein 47
Characterization of productive and unproductive mRNA splicings in F11: identification of a novel coagulation FXI isoform 47
Allelic heterogeneity of severe factor V deficiency: doubling of the mutational spectrum of the factor V gene, and expression of the identified mutations 47
The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia 46
Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE 46
L-aspartate oxidase from Escherichia coli. I. Characterization of coenzyme binding and product inhibition 46
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia 46
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease 46
Not only cancer: The long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis 46
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 46
Identificazione della prima mutazione che causa un’alterazione dello splicing dell’mRNA per la catena gamma del fibrinogeno umano in un caso di afibrinogenemia 45
First identification of a missense mutation in the D-domain of the fibrinogen beta chain in a case of congenital afibrinogenemia 45
Involvement of fibrinogen Bbeta-chain in the pathogenesis of congenital afibrinogenemia 45
Identification and characterization of 6 novel genetic defects leading to factor V deficiency 45
Totale 5.536
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Categoria #
all - tutte 99.182
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 99.182
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202016 0 0 0 0 0 0 0 0 0 0 0 16
2020/20213.094 28 30 23 23 32 935 463 231 591 340 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
2023/20242.397 177 237 451 106 84 316 123 192 34 39 263 375
2024/2025610 131 161 82 111 125 0 0 0 0 0 0 0
Totale 11.869