IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

ASSELTA, ROSANNA
 Distribuzione geografica
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Continente #
EU - Europa 12.975
NA - Nord America 11.649
AS - Asia 9.685
SA - Sud America 1.079
AF - Africa 228
OC - Oceania 75
Continente sconosciuto - Info sul continente non disponibili 44
Totale 35.735
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Nazione #
US - Stati Uniti d'America 11.160
GB - Regno Unito 4.423
CN - Cina 3.071
SG - Singapore 2.770
IT - Italia 2.258
DE - Germania 1.546
SE - Svezia 964
RU - Federazione Russa 963
HK - Hong Kong 760
BD - Bangladesh 721
BR - Brasile 691
FR - Francia 547
VN - Vietnam 527
NL - Olanda 495
UA - Ucraina 443
IN - India 423
TR - Turchia 382
CA - Canada 337
KR - Corea 322
IE - Irlanda 289
FI - Finlandia 288
EU - Europa 219
JP - Giappone 179
CO - Colombia 148
ES - Italia 124
PL - Polonia 110
ID - Indonesia 105
AR - Argentina 103
BE - Belgio 92
MX - Messico 78
AU - Australia 69
GR - Grecia 62
DK - Danimarca 60
IR - Iran 56
IQ - Iraq 55
CH - Svizzera 52
CI - Costa d'Avorio 46
ZA - Sudafrica 44
EC - Ecuador 39
AT - Austria 38
CL - Cile 34
TW - Taiwan 32
CZ - Repubblica Ceca 31
IL - Israele 29
NO - Norvegia 29
RO - Romania 29
UZ - Uzbekistan 29
PK - Pakistan 27
MA - Marocco 26
SA - Arabia Saudita 25
TH - Thailandia 25
LU - Lussemburgo 23
PH - Filippine 23
VE - Venezuela 23
EG - Egitto 21
PT - Portogallo 20
MY - Malesia 19
PE - Perù 19
TN - Tunisia 17
DZ - Algeria 14
KE - Kenya 14
JO - Giordania 13
LT - Lituania 12
PS - Palestinian Territory 12
TT - Trinidad e Tobago 11
SK - Slovacchia (Repubblica Slovacca) 10
AE - Emirati Arabi Uniti 9
AZ - Azerbaigian 9
JM - Giamaica 9
BG - Bulgaria 8
ET - Etiopia 8
PY - Paraguay 8
BY - Bielorussia 7
GT - Guatemala 7
HU - Ungheria 7
KZ - Kazakistan 7
NP - Nepal 7
UY - Uruguay 7
BA - Bosnia-Erzegovina 6
CY - Cipro 6
HN - Honduras 6
LB - Libano 6
NG - Nigeria 6
NI - Nicaragua 6
RS - Serbia 6
DO - Repubblica Dominicana 5
EE - Estonia 5
HR - Croazia 5
NZ - Nuova Zelanda 5
PA - Panama 5
PR - Porto Rico 5
SC - Seychelles 5
AL - Albania 4
AO - Angola 4
BB - Barbados 4
BZ - Belize 4
KW - Kuwait 4
MD - Moldavia 4
MU - Mauritius 4
OM - Oman 4
Totale 35.828
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Città #
Southend 4.005
Singapore 1.607
Ashburn 1.188
Chandler 828
Hong Kong 699
Beijing 652
Milan 619
San Jose 598
Dallas 542
Frankfurt am Main 513
Seattle 485
Wilmington 376
Princeton 365
Jacksonville 355
Santa Clara 354
Council Bluffs 306
Los Angeles 305
Ann Arbor 295
Dublin 284
Mountain View 237
Boardman 232
Fairfield 229
Houston 210
New York 206
Redmond 200
Bengaluru 193
Nanjing 189
Shanghai 175
Serra 155
Lauterbourg 149
Woodbridge 147
Ho Chi Minh City 146
Des Moines 145
Dearborn 142
Toronto 139
Hanoi 138
Somerville 132
Buffalo 130
Redwood City 125
Sakarya 124
Hefei 122
Moscow 121
Cambridge 116
Guangzhou 113
Bogotá 111
Andover 104
Helsinki 96
Rome 91
Tokyo 90
Warsaw 85
Berlin 84
São Paulo 79
Munich 75
Ottawa 71
Jinan 70
Phoenix 69
Cangzhou 67
Columbus 64
Tianjin 64
Jakarta 61
Athens 59
Hanover 56
Shenyang 54
The Dalles 53
Seoul 52
Turin 51
Brussels 47
Naples 47
Wuhan 47
Istanbul 45
Montreal 45
Abidjan 44
Fuzhou 43
Hebei 43
Changsha 41
Medford 41
Paris 41
Hangzhou 40
Nanchang 40
Atlanta 39
Mumbai 39
Roxbury 39
San Diego 39
Bühl 38
London 37
Nuremberg 34
Madrid 33
Buenos Aires 31
Washington 31
Kunming 30
Rio de Janeiro 30
Düsseldorf 29
Shenzhen 29
Falls Church 28
Orem 28
Verona 28
Eitensheim 27
Waanrode 27
Florence 26
Haiphong 26
Totale 21.229
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Nome #
Factor V deficiency 1.967
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 634
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients 420
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 417
Detailed stratified GWAS analysis for severe COVID-19 in four European populations 415
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites 390
Phase behavior and critical activated dynamics of limited-valence DNA nanostars 350
A functional variant in ERAP1 predisposes to multiple sclerosis 334
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 309
Gene regulation in the pathogenesis of angioedema due to inherited c1 inhibitor deficiency (hereditary angioedema) 307
Clinical Relevance of Clonal Hematopoiesis in the Oldest-Old Population: Analysis of the "Health and Anemia" Study 300
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest 288
The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p 288
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism 286
Fibrinogen Mumbai : intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 285
Tau and alpha-synuclein and genetic susceptibility to Parkinson Disease in the Italian population 285
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene 276
Genetic diagnosis of haemophilia and other inherited bleeding disorders 275
Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript 272
Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis 269
Congenital afibrinogenemia : intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene 265
A novel mutation within the MIR96 gene causes nonsyndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 264
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 262
Newtonian to non-newtonian fluid transition of a model transient network 262
Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency : molecular characterization by expression of the recombinant protein 256
Identification of novel deafness-causing variants in the tmprss3 gene by whole-exome sequencing 256
Espressione in vitro e caratterizzazione funzionale di 4 mutazioni responsabili di carenza di fattore XI della coagulazione 255
The double-faced association of the PRKCA gene with multiple sclerosis 253
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk 250
Alternative splicing and nonsense-mediated decay in the F5 gene 250
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs 250
Analysis of factor V in zebrafish demonstrates minimal levels needed for early hemostasis 240
Gene regulation in the pathogenesis of inherited C1-inhibitor deficiency (Hereditary Angioedema) 237
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 234
Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease 234
β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration 234
Database on rare bleeding disorder (RBDS) : phenotype and genotype analysis on 400 affected patients 233
Search for novel deafness genes by exome sequencing of autosomal recessive NSHL families 233
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 232
Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V : broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations 231
La mutazione tipo II (Glu117stop) causa carenza di fattore XI della coagulazione mediante degradazione allele specifica del corrispondente mRNA 231
Mutational screening and functional analyses in the zebrafish model of GIGYF2 as a candidate gene for Parkinson disease 231
Lewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids 226
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 226
Differential expression of microRNAs in peripheral blood mononuclear cells of multiple sclerosis patients 226
Mutational screening of six afibrinogenemic patients : identification and characterization of four novel molecular defects 224
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 223
Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians 223
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 223
Exome sequencing identifies PRPS1 as a major locus for X-linked nonsyndromic hearing loss in the Italian population 223
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa 223
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 221
Novel genes and sex differences in COVID-19 severity 220
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene 220
PRKCA and multiple sclerosis : association in two independent populations 220
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency. 220
Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581] (Journal of Hepatology (2021) 75(3) (572–581), (S0168827821003342), (10.1016/j.jhep.2021.04.055)) 220
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy 217
Mutational screening and functional analyses in the zebrafish model of GIGYF2 as a candidate gene for Parkinson disease 216
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 215
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs 215
Congenital afibrinogenemia : two novel fibrinogen gene mutations identified in two patients from Iran 213
Identification by exome sequencing and functional characterization of novel deafness-causing mutations in PRPS1 213
Congenital hypofibrinogenemia : characterization of two missense mutations affecting fibrinogen assembly and secretion 212
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database 211
Identification of four novel polymorphisms in the Aα and γ fibrinogen genes and analysis of association with plasma levels of the protein 211
Identification by whole-exome sequencing of two novel LARS2 mutations in an Italian family with Perrault syndrome 211
Type II mutation (Glu117stop) causes factor XI deficiency by inducing allele specific mRNA degradation 210
Association and functional analyses of MEF2A as a susceptibility gene for premature myocardial infarction and coronary artery disease 210
Identification of novel NSHL-causing mutations by whole exome sequencing 209
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 208
Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency 208
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years [Clinical relevance of clonal hematopoiesis in persons aged >= 80 years] 207
Severe factor V deficiency : exon skipping in the factor V gene causing a partial deletion of the C1 domain 204
State of the art of rare bleeding disorders database (RBDD) 203
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis 203
Identification of six novel mutations causing coagulation factor V deficiency 200
Understanding genetic variation in the CFTR gene by next-generation sequencing 198
The role of the Protein Kinase C Alpha (PRKCA) gene in the predisposition to multiple sclerosis in the Italian population 198
Molecular genetics of quantitative fibrinogen disorders 196
Uniparental disomy of chromosome 4 including a novel deletion in the FGA gene that causes congenital afibrinogenemia 196
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 195
Identification by exome capture and sequencing of two novel mutations in the PRPS1 gene in Italian families with nonsyndromic sensorineural hearing loss 195
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 195
Characterization of productive and unproductive mRNA splicings in F11 : identification of a novel coagulation isoform 194
Mutational screening and Zebrafish functional analysis of Gigyf2 as a Parkinson-disease gene 192
The molecular basis of quantitative fibrinogen disorders 191
The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia 191
Mutations leading to premature termination codons in the Von Willebrand factor gene are associated with the decay of the mutant mRNAs 190
In-vitro expression and functional characterization of four mutations causing factor XI deficiency 189
Characterization of the F11 alternative splicing pattern : identification of a novel coagulation FXI isoform 189
The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease 189
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 187
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II 186
The discovery of Mary's mutation 185
A type mutation II (Glu117stop), induction of allele-specific mRNA degradation and FXI deficiency 185
The Protein Kinase C Alpha (PRKCA) gene is associated with multiple sclerosis in the Italian population 185
Response: Further thoughts on the "phantom" delta6/7 FXI isoform 185
cDNA cloning of turtle prion protein 185
Identificazione di 5 nuove mutazioni puntiformi responsabili di carenza di fattore V della coagulazione 184
Totale 25.674
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Categoria #
all - tutte 95.286
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 95.286
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20222.382 213 86 108 90 144 152 216 141 292 282 142 516
2022/20232.902 320 304 240 336 353 538 119 203 270 35 114 70
2023/20242.186 91 186 133 185 493 160 146 149 72 141 191 239
2024/20255.014 218 498 150 509 376 268 228 471 328 505 407 1.056
2025/202610.536 1.091 676 1.096 733 956 658 1.109 444 931 825 1.111 906
2026/202777 77 0 0 0 0 0 0 0 0 0 0 0
Totale 37.261