IRIS
ASSELTA, ROSANNA
 Distribuzione geografica
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Continente #
NA - Nord America 13.861
AS - Asia 8.204
EU - Europa 2.703
SA - Sud America 1.547
AF - Africa 483
Continente sconosciuto - Info sul continente non disponibili 222
OC - Oceania 15
AN - Antartide 1
Totale 27.036
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Nazione #
US - Stati Uniti d'America 13.556
SG - Singapore 4.993
CN - Cina 1.475
BR - Brasile 1.258
VN - Vietnam 790
IT - Italia 624
FI - Finlandia 477
IE - Irlanda 352
NG - Nigeria 333
HK - Hong Kong 275
DE - Germania 271
FR - Francia 226
GB - Regno Unito 180
CA - Canada 170
NL - Olanda 128
IN - India 111
AR - Argentina 109
SE - Svezia 100
BD - Bangladesh 81
RU - Federazione Russa 71
MX - Messico 68
IQ - Iraq 62
TR - Turchia 55
ZA - Sudafrica 54
CO - Colombia 44
IL - Israele 44
ID - Indonesia 41
PL - Polonia 38
PK - Pakistan 37
UA - Ucraina 36
ES - Italia 35
EC - Ecuador 34
BE - Belgio 30
CL - Cile 29
JP - Giappone 29
MA - Marocco 25
PH - Filippine 23
VE - Venezuela 21
UZ - Uzbekistan 20
MY - Malesia 19
JM - Giamaica 18
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
PT - Portogallo 12
CZ - Repubblica Ceca 11
KR - Corea 11
AZ - Azerbaigian 10
DO - Repubblica Dominicana 10
EG - Egitto 10
IR - Iran 10
AT - Austria 9
LB - Libano 9
NO - Norvegia 9
TT - Trinidad e Tobago 9
KG - Kirghizistan 8
RS - Serbia 8
UY - Uruguay 8
BG - Bulgaria 7
MD - Moldavia 7
A2 - ???statistics.table.value.countryCode.A2??? 5
AL - Albania 5
BY - Bielorussia 5
LV - Lettonia 5
PR - Porto Rico 5
QA - Qatar 5
SN - Senegal 5
AM - Armenia 4
BH - Bahrain 4
GR - Grecia 4
HN - Honduras 4
KZ - Kazakistan 4
LT - Lituania 4
SK - Slovacchia (Repubblica Slovacca) 4
SY - Repubblica araba siriana 4
TH - Thailandia 4
BB - Barbados 3
BS - Bahamas 3
CR - Costa Rica 3
ET - Etiopia 3
EU - Europa 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
CI - Costa d'Avorio 2
Totale 26.784
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Città #
Singapore 2.269
Wilmington 1.667
Chandler 1.627
Ashburn 800
The Dalles 739
San Mateo 697
Shanghai 670
San Jose 544
Dallas 524
Helsinki 475
Ann Arbor 455
Council Bluffs 398
New York 388
Beijing 359
Dublin 347
Benin City 330
Princeton 314
Leawood 311
Lawrence 302
Boardman 292
Hong Kong 264
Ho Chi Minh City 258
Milan 228
Hanoi 196
Paris 175
Los Angeles 160
Santa Clara 158
Woodbridge 154
Fairfield 144
Amsterdam 107
São Paulo 104
London 83
Toronto 76
Rome 75
Columbus 67
Seattle 66
Buffalo 62
San Diego 60
Phoenix 54
Orem 51
Norwalk 48
Falkenstein 46
Da Nang 39
Chicago 34
Rio de Janeiro 34
Brooklyn 32
Charlotte 32
Haiphong 32
Belo Horizonte 31
Montreal 30
Warsaw 30
Abbiategrasso 29
Brussels 29
Johannesburg 28
Houston 27
Chennai 26
Miami 26
Naples 25
Kocaeli 24
Moscow 23
Figino 22
Manchester 22
Atlanta 21
Curitiba 20
Tashkent 20
Tokyo 20
Brasília 19
Dhaka 19
Frankfurt am Main 19
Mexico City 18
San Francisco 18
Baghdad 17
Biên Hòa 16
Munich 16
Porto Alegre 16
Cape Town 15
Hải Dương 15
Las Vegas 15
Santo André 15
Mumbai 14
Nairobi 14
Salvador 14
Sittingbourne 14
Boston 13
Falls Church 13
Guangzhou 13
Hillsboro 13
Erbil 12
Jakarta 12
New Delhi 12
Philadelphia 12
Quito 12
Amman 11
Campinas 11
Newark 11
Osasco 11
Redmond 11
Santiago 11
Stockholm 11
Zurich 11
Totale 17.274
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Nome #
Esistenza di almeno un quarto locus per l’ADNFLE 202
Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript 167
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains 151
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients 146
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 145
MEDTEC Students against Coronavirus: Investigating the Role of Hemostatic Genes in the Predisposition to COVID-19 Severity 145
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 141
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients 139
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 138
Glucocerebrosidase mutations in primary parkinsonism 137
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 136
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 135
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 132
Exploring the global landscape of genetic variation in coagulation factor XI deficiency 131
SER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population 130
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 128
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 125
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II 124
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels 124
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 123
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene 122
DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease 120
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 120
Mapping the human genetic architecture of COVID-19 120
A new exon in the 5’ untranslated region of bovine Connexin32 gene 119
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 119
Characterization of miR-634, a microRNA potentially relevant for multiple sclerosis 119
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 118
Not only cancer: The long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis 118
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 116
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 115
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 114
A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family 113
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 113
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 113
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 113
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years 113
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia 112
The double-faced association of the PRKCA gene with multiple sclerosis 111
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 111
Genetic diagnosis of haemophilia and other inherited bleeding disorders 111
The molecular basis of quantitative fibrinogen disorders 110
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 110
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 20q13.2-13.3 110
Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women. 109
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 109
DNAJC12 and dopa-responsive nonprogressive parkinsonism 108
Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management 108
Common variants in the hemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population 107
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 107
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency 107
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe FV deficiency 106
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease 106
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 105
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 104
Factor XI gene mutations in factor XI deficient patients of the Czech Republic 103
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters 103
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 102
A functional variant in ERAP1 predisposes to multiple sclerosis 101
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 101
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies 101
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 100
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 100
Inactivating mutations in NPC1L1 and protection from coronary heart disease 100
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs 99
Factor V deficiency 98
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 98
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on fibrinogen gamma-module 98
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 98
Impact of prostate cancer screening in European ancestry un‐affected men with germline DNA repair pathogenic variants 96
Coagulation factor V 96
Molecular genetics of quantitative fibrinogen disorders 96
Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly 96
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 96
Phase behavior and critical activated dynamics of limited-valence DNA nanostars 95
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 95
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 95
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 94
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 93
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 93
Molecular characterization of two novel mutations causing factor XI deficiency : a splicing defect and a missense mutation responsible for a CRM+ defect 93
miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA 93
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. 92
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 92
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients 92
L’epilessia notturna del lobo frontale. Valutazione clinica, video-polisonnografica e genetica di 40 pazienti e delineazione della sindrome epilettica 91
Meta-analysis of Multiple Sclerosis microarray data reveals dysregulation in RNA splicing regulatory genes 91
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 91
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis 91
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 90
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain 90
Inherited defects of coagulation factor V: the hemorrhagic side 90
Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases 90
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 90
The immunobiology of female predominance in primary biliary cholangitis 89
Autosomal dominant nocturnal frontal lobe epilepsy: a video-polysomnographic and genetic apprisal of 40 patients and delineation of the epileptic syndrome 89
Afibrinogenemia: un possibile modello per lo studio dei meccanismi responsabili del controllo della sintesi, dell'assemblaggio e della secrezione del fibrinogeno nella specie umana 89
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease 89
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease 89
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 89
Totale 10.992
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Categoria #
all - tutte 173.595
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 173.595
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.484 0 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
2025/20269.698 1.372 599 603 848 361 404 2.773 539 585 588 427 599
2026/20271.471 723 748 0 0 0 0 0 0 0 0 0 0
Totale 27.036