Distribuzione geografica
Continente #
NA - Nord America 8.506
EU - Europa 1.682
AS - Asia 693
AF - Africa 333
SA - Sud America 13
Continente sconosciuto - Info sul continente non disponibili 8
OC - Oceania 5
Totale 11.240
Nazione #
US - Stati Uniti d'America 8.437
FI - Finlandia 464
CN - Cina 402
IE - Irlanda 343
NG - Nigeria 331
SG - Singapore 184
DE - Germania 179
FR - Francia 164
IT - Italia 164
NL - Olanda 100
SE - Svezia 87
GB - Regno Unito 76
CA - Canada 68
IL - Israele 37
RU - Federazione Russa 29
BE - Belgio 26
TR - Turchia 24
IN - India 13
RO - Romania 10
UA - Ucraina 10
CL - Cile 7
HK - Hong Kong 7
CH - Svizzera 6
IR - Iran 6
A2 - ???statistics.table.value.countryCode.A2??? 5
AT - Austria 5
AU - Australia 4
JP - Giappone 4
KR - Corea 4
EC - Ecuador 3
EU - Europa 3
NO - Norvegia 3
PK - Pakistan 3
TW - Taiwan 3
BG - Bulgaria 2
CZ - Repubblica Ceca 2
DK - Danimarca 2
ES - Italia 2
GR - Grecia 2
PT - Portogallo 2
SA - Arabia Saudita 2
AL - Albania 1
AM - Armenia 1
AR - Argentina 1
BR - Brasile 1
EG - Egitto 1
MA - Marocco 1
MD - Moldavia 1
MK - Macedonia 1
MX - Messico 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PE - Perù 1
PH - Filippine 1
PL - Polonia 1
TH - Thailandia 1
Totale 11.240
Città #
Wilmington 1.662
Chandler 1.627
San Mateo 695
Helsinki 464
Ann Arbor 455
Shanghai 348
Dublin 341
Benin City 330
Leawood 311
Lawrence 302
Princeton 302
Boardman 293
New York 273
Paris 161
Singapore 156
Woodbridge 150
Fairfield 143
Ashburn 140
Amsterdam 97
London 63
Toronto 60
San Diego 55
Milan 54
Norwalk 48
Seattle 44
Abbiategrasso 29
Beijing 28
Phoenix 28
Brussels 26
Kocaeli 24
Moscow 22
Santa Clara 20
Falkenstein 19
Los Angeles 18
Falls Church 12
Monmouth Junction 10
Andover 9
Cambridge 9
Des Moines 9
Houston 9
Redmond 9
Frankfurt am Main 8
Guangzhou 8
Pune 7
Redwood City 7
Hanover 6
Hong Kong 6
Tappahannock 6
Zhengzhou 6
Henderson 5
Nanjing 5
Sacramento 5
Winnipeg 5
Brighton 4
Gunzenhausen 4
Rome 4
Zurich 4
Brierley Hill 3
Fife 3
Mumbai 3
Ottawa 3
Quito 3
San Jose 3
Vienna 3
Berlin 2
Bolzano 2
Buffalo 2
Cava de' Tirreni 2
Clearwater 2
Florence 2
Hefei 2
Hialeah 2
Kemerovo 2
Le Grazie 2
Lecco 2
Marnate 2
Monza 2
Naples 2
Nova Milanese 2
Nuremberg 2
Padova 2
Raleigh 2
Riyadh 2
Seveso 2
Shenyang 2
Sofia 2
Taipei 2
Toba Tek Singh 2
Wageningen 2
Alicante 1
Allerød 1
Athens 1
Auckland 1
Augusta 1
Beinasco 1
Bologna 1
Borås 1
Brno 1
Casablanca 1
Catania 1
Totale 9.027
Nome #
Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript 82
Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women. 65
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 65
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients 62
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 62
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients 62
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 62
A new exon in the 5’ untranslated region of bovine Connexin32 gene 59
A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family 58
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains 58
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease 58
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 58
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 57
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 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
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 57
Characterization of miR-634, a microRNA potentially relevant for multiple sclerosis 57
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe FV deficiency 56
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation 56
Exploring the global landscape of genetic variation in coagulation factor XI deficiency 56
Autosomal dominant nocturnal frontal lobe epilepsy: a video-polysomnographic and genetic apprisal of 40 patients and delineation of the epileptic syndrome 55
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 54
Congenital afibrinogenemia caused by uniparental isodisomy of chromosome 4 containing a 15-kb deletion involving fibrinogen Aalpha-chain gene 54
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 54
Analisi funzionale del promotore della catena gamma del fibrinogeno umano 54
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 53
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 53
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 53
Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly 52
Allelic heterogeneity of severe factor V deficiency 52
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 52
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 51
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 51
Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease 51
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 51
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 51
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 51
Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions 50
Response: Further thoughts on the "phantom" delta6/7 FXI isoform 50
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 50
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 50
Retrospective evaluation of dysfibrinogenaemic patients in a single centre: clinical features and laboratory findings 50
Alternative splicing and nonsense-mediated decay in the F5 gene 50
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 50
Mutations in disguise 49
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. 49
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 49
Eterogeneità allelica della carenza grave di fattore V della coagulazione: ampliamento dello spettro mutazionale ed espressione delle mutazioni missense identificate 49
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene 49
Autosomal recessive deficiencies of coagulation factors 48
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II 48
SER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population 48
Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases 48
DNAJC12 and dopa-responsive nonprogressive parkinsonism 48
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 48
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 48
Common variants in the hemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population 47
Factor V Leiden is associated with premature myocardial infarction 47
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 47
Molecular characterization of six novel mutations causing factor V deficiency 47
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate 47
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 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
Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis 47
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain 46
The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia 46
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 46
cDNA cloning of turtle prion protein 46
The double-faced association of the PRKCA gene with multiple sclerosis 46
Characterization of productive and unproductive mRNA splicings in F11: identification of a novel coagulation FXI isoform 46
L’epilessia notturna del lobo frontale. Valutazione clinica, video-polisonnografica e genetica di 40 pazienti e delineazione della sindrome epilettica 46
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease 46
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 46
Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis. 46
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 46
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years 46
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 46
Glucocerebrosidase mutations in primary parkinsonism 45
Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE 45
Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the gamma-chain (p.Glu275Stop) 45
A functional variant in ERAP1 predisposes to multiple sclerosis 45
First identification of a missense mutation in the D-domain of the fibrinogen beta chain in a case of congenital afibrinogenemia 45
Molecular characterization of an Italian cohort of 10 patients with type 3 Von Willebrand disease: expression studies of 3 missense mutations 45
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease 45
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 45
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 45
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 44
miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA 44
Phase behavior and critical activated dynamics of limited-valence DNA nanostars 43
Identificazione della prima mutazione che causa un’alterazione dello splicing dell’mRNA per la catena gamma del fibrinogeno umano in un caso di afibrinogenemia 43
Involvement of fibrinogen Bbeta-chain in the pathogenesis of congenital afibrinogenemia 43
Identification and characterization of 6 novel genetic defects leading to factor V deficiency 43
The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease 43
Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the ERSD-associated gamma-G284R mutant 43
No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis 43
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease 43
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies 43
The immunobiology of female predominance in primary biliary cholangitis 42
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 42
Totale 5.009
Categoria #
all - tutte 86.427
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 86.427

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
2023/20242.345 203 256 467 108 99 324 152 213 40 47 292 144
Totale 11.424