IRIS
ASSELTA, ROSANNA
 Distribuzione geografica
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Continente #
NA - Nord America 12.565
AS - Asia 8.114
EU - Europa 2.382
SA - Sud America 1.530
AF - Africa 483
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 8
AN - Antartide 1
Totale 25.098
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Nazione #
US - Stati Uniti d'America 12.292
SG - Singapore 4.973
CN - Cina 1.434
BR - Brasile 1.251
VN - Vietnam 777
FI - Finlandia 477
IE - Irlanda 351
NG - Nigeria 333
IT - Italia 325
DE - Germania 268
HK - Hong Kong 267
FR - Francia 222
GB - Regno Unito 180
CA - Canada 153
NL - Olanda 128
IN - India 111
AR - Argentina 109
SE - Svezia 99
BD - Bangladesh 77
RU - Federazione Russa 71
MX - Messico 67
IQ - Iraq 62
TR - Turchia 54
ZA - Sudafrica 54
IL - Israele 44
ID - Indonesia 41
CO - Colombia 38
PL - Polonia 37
PK - Pakistan 36
UA - Ucraina 36
EC - Ecuador 34
ES - Italia 32
BE - Belgio 29
JP - Giappone 29
CL - Cile 25
MA - Marocco 25
PH - Filippine 23
VE - Venezuela 21
UZ - Uzbekistan 20
MY - Malesia 17
PY - Paraguay 17
RO - Romania 16
SA - Arabia Saudita 16
KE - Kenya 15
NP - Nepal 15
AE - Emirati Arabi Uniti 14
CH - Svizzera 14
PE - Perù 14
TN - Tunisia 14
AU - Australia 12
BO - Bolivia 12
DZ - Algeria 12
JO - Giordania 12
JM - Giamaica 11
KR - Corea 11
AZ - Azerbaigian 10
CZ - Repubblica Ceca 10
DO - Repubblica Dominicana 10
EG - Egitto 10
IR - Iran 10
AT - Austria 9
LB - Libano 9
PT - Portogallo 9
TT - Trinidad e Tobago 9
KG - Kirghizistan 8
UY - Uruguay 8
BG - Bulgaria 7
MD - Moldavia 7
NO - Norvegia 7
RS - Serbia 7
A2 - ???statistics.table.value.countryCode.A2??? 5
AL - Albania 5
BY - Bielorussia 5
LV - Lettonia 5
QA - Qatar 5
SN - Senegal 5
AM - Armenia 4
BH - Bahrain 4
GR - Grecia 4
KZ - Kazakistan 4
LT - Lituania 4
SK - Slovacchia (Repubblica Slovacca) 4
SY - Repubblica araba siriana 4
TH - Thailandia 4
BS - Bahamas 3
ET - Etiopia 3
EU - Europa 3
HN - Honduras 3
HR - Croazia 3
LY - Libia 3
OM - Oman 3
PA - Panama 3
PS - Palestinian Territory 3
SV - El Salvador 3
TW - Taiwan 3
BA - Bosnia-Erzegovina 2
BB - Barbados 2
CI - Costa d'Avorio 2
CR - Costa Rica 2
DK - Danimarca 2
Totale 25.062
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Città #
Singapore 2.257
Wilmington 1.662
Chandler 1.627
Ashburn 757
The Dalles 739
San Mateo 697
Shanghai 667
San Jose 537
Dallas 508
Helsinki 475
Ann Arbor 455
New York 367
Dublin 347
Beijing 340
Benin City 330
Leawood 311
Lawrence 302
Princeton 302
Boardman 292
Hong Kong 256
Ho Chi Minh City 254
Hanoi 192
Paris 174
Woodbridge 150
Fairfield 143
Los Angeles 137
Santa Clara 116
Amsterdam 107
São Paulo 104
Milan 86
London 83
Toronto 75
Columbus 64
Seattle 62
San Diego 55
Buffalo 51
Orem 51
Norwalk 48
Falkenstein 46
Council Bluffs 43
Da Nang 39
Phoenix 38
Rio de Janeiro 34
Haiphong 32
Belo Horizonte 31
Montreal 30
Abbiategrasso 29
Brooklyn 29
Warsaw 29
Brussels 28
Johannesburg 28
Chennai 26
Charlotte 24
Kocaeli 24
Moscow 23
Chicago 21
Manchester 21
Curitiba 20
Tashkent 20
Tokyo 20
Brasília 19
Dhaka 18
Frankfurt am Main 18
Baghdad 17
Houston 17
Mexico City 17
Naples 17
Rome 17
Atlanta 16
Biên Hòa 16
Porto Alegre 16
San Francisco 16
Cape Town 15
Hải Dương 15
Santo André 15
Mumbai 14
Munich 14
Nairobi 14
Sittingbourne 14
Boston 13
Guangzhou 13
Hillsboro 13
Salvador 13
Erbil 12
Falls Church 12
Jakarta 12
New Delhi 12
Quito 12
Amman 11
Campinas 11
Osasco 11
Stockholm 11
Zurich 11
Bogotá 10
Cambridge 10
Goiânia 10
Lima 10
Monmouth Junction 10
São José do Rio Preto 10
Thái Bình 10
Totale 16.357
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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
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
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
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
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II 119
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 119
DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease 117
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene 116
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
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
A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family 110
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
Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women. 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
Epilessia notturna del lobo frontale: conferma della trasmissione autosomica dominante in 28 famiglie italiane ed evidenza di locus eterogeneità per esclusione di linkage dalla regione 20q13.2-13.3 106
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
Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management 100
Factor XI gene mutations in factor XI deficient patients of the Czech Republic 99
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency 98
A functional variant in ERAP1 predisposes to multiple sclerosis 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
Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly 93
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 92
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on fibrinogen gamma-module 92
Phase behavior and critical activated dynamics of limited-valence DNA nanostars 91
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
Factor V deficiency 90
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
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 90
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs 90
Impact of prostate cancer screening in European ancestry un‐affected men with germline DNA repair pathogenic variants 89
Coagulation factor V 89
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 89
Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases 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
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
L’epilessia notturna del lobo frontale. Valutazione clinica, video-polisonnografica e genetica di 40 pazienti e delineazione della sindrome epilettica 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
The immunobiology of female predominance in primary biliary cholangitis 86
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients 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
Autosomal dominant nocturnal frontal lobe epilepsy: a video-polysomnographic and genetic apprisal of 40 patients and delineation of the epileptic syndrome 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
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
Identification and characterization of 6 novel genetic defects leading to factor V deficiency 84
Totale 10.406
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Categoria #
all - tutte 165.944
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 165.944
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021375 0 0 0 0 0 0 0 0 0 0 0 375
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
2023/20242.578 203 256 467 108 99 324 152 198 39 44 287 401
2024/20254.210 123 166 85 107 170 530 197 382 496 901 540 513
2025/20269.445 1.372 599 603 848 361 404 2.773 539 585 588 427 346
Totale 25.312