IRIS
ASSELTA, ROSANNA
 Distribuzione geografica
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Continente #
NA - Nord America 8.590
EU - Europa 1.758
AS - Asia 1.363
AF - Africa 333
SA - Sud America 39
Continente sconosciuto - Info sul continente non disponibili 8
OC - Oceania 5
Totale 12.096
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Nazione #
US - Stati Uniti d'America 8.513
SG - Singapore 747
CN - Cina 494
FI - Finlandia 467
IE - Irlanda 344
NG - Nigeria 331
IT - Italia 194
DE - Germania 193
FR - Francia 167
NL - Olanda 103
GB - Regno Unito 91
SE - Svezia 87
CA - Canada 68
IL - Israele 37
RU - Federazione Russa 29
BE - Belgio 27
TR - Turchia 24
BR - Brasile 23
IN - India 13
UA - Ucraina 11
IR - Iran 10
RO - Romania 10
CL - Cile 8
MX - Messico 8
HK - Hong Kong 7
AT - Austria 6
CH - Svizzera 6
A2 - ???statistics.table.value.countryCode.A2??? 5
EC - Ecuador 5
JP - Giappone 5
AU - Australia 4
KR - Corea 4
PK - Pakistan 4
BD - Bangladesh 3
BG - Bulgaria 3
CZ - Repubblica Ceca 3
ES - Italia 3
EU - Europa 3
NO - Norvegia 3
TW - Taiwan 3
DK - Danimarca 2
GR - Grecia 2
IQ - Iraq 2
MD - Moldavia 2
PE - Perù 2
PT - Portogallo 2
SA - Arabia Saudita 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AM - Armenia 1
AR - Argentina 1
BH - Bahrain 1
DO - Repubblica Dominicana 1
EG - Egitto 1
MA - Marocco 1
MK - Macedonia 1
MY - Malesia 1
NZ - Nuova Zelanda 1
OM - Oman 1
PH - Filippine 1
PL - Polonia 1
TH - Thailandia 1
UZ - Uzbekistan 1
Totale 12.096
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Città #
Wilmington 1.662
Chandler 1.627
San Mateo 695
Helsinki 467
Ann Arbor 455
Singapore 449
Shanghai 378
Dublin 342
Benin City 330
Leawood 311
Lawrence 302
Princeton 302
Boardman 293
New York 273
Ashburn 165
Paris 163
Woodbridge 150
Fairfield 143
Amsterdam 97
London 63
Toronto 60
Milan 59
San Diego 55
Seattle 54
Norwalk 48
Beijing 43
Abbiategrasso 29
Phoenix 29
Brussels 27
Kocaeli 24
Moscow 22
Santa Clara 22
Falkenstein 19
Los Angeles 19
Sittingbourne 14
Falls Church 12
Monmouth Junction 10
Andover 9
Cambridge 9
Des Moines 9
Guangzhou 9
Houston 9
Redmond 9
Frankfurt am Main 8
Cologno Monzese 7
Munich 7
Pune 7
Redwood City 7
Hanover 6
Hong Kong 6
Tappahannock 6
Zhengzhou 6
Henderson 5
Nanjing 5
Sacramento 5
Tehuacán 5
Winnipeg 5
Brighton 4
Gunzenhausen 4
Nuremberg 4
Rome 4
Vienna 4
Zurich 4
Brierley Hill 3
Fife 3
Mumbai 3
Ottawa 3
Quito 3
San Jose 3
Sofia 3
São Paulo 3
Berlin 2
Bolzano 2
Brno 2
Buffalo 2
Cava de' Tirreni 2
Chisinau 2
Clearwater 2
Florence 2
Hefei 2
Hialeah 2
Kemerovo 2
Le Grazie 2
Lecco 2
Lima 2
Maceió 2
Marnate 2
Monza 2
Naples 2
Nova Milanese 2
Padova 2
Puebla City 2
Raleigh 2
Riyadh 2
Santiago 2
Seveso 2
Shenyang 2
Shenzhen 2
Taipei 2
Toba Tek Singh 2
Totale 9.458
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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
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
Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women. 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
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
A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family 58
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 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
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
Analisi funzionale del promotore della catena gamma del fibrinogeno umano 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
Autosomal dominant nocturnal frontal lobe epilepsy: a video-polysomnographic and genetic apprisal of 40 patients and delineation of the epileptic syndrome 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
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 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
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 52
Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly 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
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene 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
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
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
The immunobiology of female predominance in primary biliary cholangitis 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
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II 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
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
Autosomal recessive deficiencies of coagulation factors 49
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
Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases 49
DNAJC12 and dopa-responsive nonprogressive parkinsonism 49
Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis 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
Activation of NF-kappaB by IL-1beta blocks IL-6-induced sustained STAT3 activation and STAT3-dependent gene expression of the human gamma-fibrinogen gene 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
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate 47
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
A functional variant in ERAP1 predisposes to multiple sclerosis 46
Molecular characterization of an Italian cohort of 10 patients with type 3 Von Willebrand disease: expression studies of 3 missense mutations 46
L’epilessia notturna del lobo frontale. Valutazione clinica, video-polisonnografica e genetica di 40 pazienti e delineazione della sindrome epilettica 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
Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the gamma-chain (p.Glu275Stop) 45
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 5.428
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Categoria #
all - tutte 104.087
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 104.087
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202019 0 0 0 0 0 0 0 0 0 0 0 19
2020/20213.129 24 28 19 19 29 943 469 236 586 363 38 375
2021/20221.522 38 29 25 347 18 19 77 231 154 150 338 96
2022/20234.409 689 152 399 510 433 361 4 364 789 350 303 55
2023/20242.603 203 256 467 108 99 324 152 212 40 47 292 403
2024/2025609 125 167 85 107 125 0 0 0 0 0 0 0
Totale 12.291