IRIS
ASSELTA, ROSANNA
 Distribuzione geografica
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Continente #
NA - Nord America 11.923
AS - Asia 7.874
EU - Europa 2.360
SA - Sud America 1.527
AF - Africa 480
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 8
AN - Antartide 1
Totale 24.188
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Nazione #
US - Stati Uniti d'America 11.696
SG - Singapore 4.883
CN - Cina 1.318
BR - Brasile 1.251
VN - Vietnam 774
FI - Finlandia 477
IE - Irlanda 351
NG - Nigeria 333
IT - Italia 311
DE - Germania 268
HK - Hong Kong 252
FR - Francia 221
GB - Regno Unito 179
CA - Canada 128
NL - Olanda 125
IN - India 111
AR - Argentina 109
SE - Svezia 99
BD - Bangladesh 73
RU - Federazione Russa 71
IQ - Iraq 62
MX - Messico 59
TR - Turchia 54
ZA - Sudafrica 53
IL - Israele 44
ID - Indonesia 41
PL - Polonia 37
CO - Colombia 36
UA - Ucraina 36
PK - Pakistan 35
EC - Ecuador 34
BE - Belgio 29
ES - Italia 29
JP - Giappone 28
CL - Cile 25
MA - Marocco 25
PH - Filippine 22
UZ - Uzbekistan 20
VE - Venezuela 20
PY - Paraguay 17
RO - Romania 16
SA - Arabia Saudita 16
KE - Kenya 15
CH - Svizzera 14
MY - Malesia 14
PE - Perù 14
TN - Tunisia 14
AE - Emirati Arabi Uniti 13
NP - Nepal 13
AU - Australia 12
BO - Bolivia 12
DZ - Algeria 12
JO - Giordania 12
AZ - Azerbaigian 10
CZ - Repubblica Ceca 10
DO - Repubblica Dominicana 10
EG - Egitto 10
IR - Iran 10
AT - Austria 9
KR - Corea 9
LB - Libano 9
PT - Portogallo 9
JM - Giamaica 8
KG - Kirghizistan 8
UY - Uruguay 8
BG - Bulgaria 7
MD - Moldavia 7
NO - Norvegia 7
RS - Serbia 7
TT - Trinidad e Tobago 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
ET - Etiopia 3
EU - Europa 3
HR - Croazia 3
OM - Oman 3
PA - Panama 3
PS - Palestinian Territory 3
TH - Thailandia 3
TW - Taiwan 3
BA - Bosnia-Erzegovina 2
BB - Barbados 2
CI - Costa d'Avorio 2
DK - Danimarca 2
GE - Georgia 2
HN - Honduras 2
HU - Ungheria 2
KH - Cambogia 2
KI - Kiribati 2
Totale 24.158
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Città #
Singapore 2.247
Wilmington 1.662
Chandler 1.627
The Dalles 739
San Mateo 696
Ashburn 681
Shanghai 664
Dallas 494
Helsinki 475
Ann Arbor 455
San Jose 422
Dublin 347
Benin City 330
New York 323
Leawood 311
Beijing 309
Lawrence 302
Princeton 302
Boardman 292
Ho Chi Minh City 254
Hong Kong 242
Hanoi 189
Paris 174
Woodbridge 150
Fairfield 143
Amsterdam 107
São Paulo 104
Los Angeles 91
Milan 86
London 83
Santa Clara 68
Toronto 67
Columbus 64
Seattle 59
San Diego 55
Orem 51
Norwalk 48
Falkenstein 46
Council Bluffs 43
Da Nang 39
Phoenix 36
Rio de Janeiro 34
Haiphong 32
Belo Horizonte 31
Abbiategrasso 29
Warsaw 29
Brooklyn 28
Brussels 28
Johannesburg 28
Chennai 26
Montreal 26
Kocaeli 24
Moscow 23
Manchester 21
Curitiba 20
Tashkent 20
Tokyo 20
Brasília 19
Dhaka 18
Frankfurt am Main 18
Baghdad 17
Naples 17
Biên Hòa 16
Porto Alegre 16
San Francisco 16
Charlotte 15
Hải Dương 15
Santo André 15
Cape Town 14
Houston 14
Mumbai 14
Munich 14
Nairobi 14
Rome 14
Sittingbourne 14
Boston 13
Salvador 13
Chicago 12
Erbil 12
Falls Church 12
Guangzhou 12
Jakarta 12
New Delhi 12
Quito 12
Amman 11
Atlanta 11
Campinas 11
Hillsboro 11
Osasco 11
Stockholm 11
Zurich 11
Bogotá 10
Goiânia 10
Lima 10
Mexico City 10
Monmouth Junction 10
São José do Rio Preto 10
Thái Bình 10
Vũng Tàu 10
Andover 9
Totale 15.852
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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 147
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients 136
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 136
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains 134
Glucocerebrosidase mutations in primary parkinsonism 131
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients 130
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 128
SER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population 126
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 124
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 122
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 120
MEDTEC Students against Coronavirus: Investigating the Role of Hemostatic Genes in the Predisposition to COVID-19 Severity 120
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II 117
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 116
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 116
Characterization of miR-634, a microRNA potentially relevant for multiple sclerosis 114
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene 113
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 113
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 112
A new exon in the 5’ untranslated region of bovine Connexin32 gene 111
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 111
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 110
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 110
A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family 108
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 108
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 108
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 106
Exploring the global landscape of genetic variation in coagulation factor XI deficiency 106
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 106
Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women. 105
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 105
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 20q13.2-13.3 104
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 104
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 103
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe FV deficiency 102
The double-faced association of the PRKCA gene with multiple sclerosis 102
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 101
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 101
DNAJC12 and dopa-responsive nonprogressive parkinsonism 101
Genetic diagnosis of haemophilia and other inherited bleeding disorders 101
The molecular basis of quantitative fibrinogen disorders 100
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 99
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease 99
Common variants in the hemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population 98
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 98
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 97
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia 97
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 97
Factor XI gene mutations in factor XI deficient patients of the Czech Republic 96
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 96
DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease 95
A functional variant in ERAP1 predisposes to multiple sclerosis 95
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years 95
Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management 95
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 94
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency 92
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 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 89
Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly 89
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 89
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters 89
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels 89
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies 89
Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases 88
Mapping the human genetic architecture of COVID-19 88
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 87
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. 87
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 87
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 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
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
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on fibrinogen gamma-module 87
Meta-analysis of Multiple Sclerosis microarray data reveals dysregulation in RNA splicing regulatory genes 87
Factor V deficiency 86
Not only cancer: The long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis 86
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 86
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 85
Coagulation factor V 85
Phase behavior and critical activated dynamics of limited-valence DNA nanostars 85
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 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
Autosomal dominant nocturnal frontal lobe epilepsy: a video-polysomnographic and genetic apprisal of 40 patients and delineation of the epileptic syndrome 84
Inactivating mutations in NPC1L1 and protection from coronary heart disease 84
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 84
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain 83
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene 83
Identification and characterization of 6 novel genetic defects leading to factor V deficiency 83
Analisi funzionale del promotore della catena gamma del fibrinogeno umano 83
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 83
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy 82
Molecular genetics of quantitative fibrinogen disorders 82
Molecular characterization of two novel mutations causing factor XI deficiency : a splicing defect and a missense mutation responsible for a CRM+ defect 82
Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis 82
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene 82
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 82
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 82
Inherited defects of coagulation factor V: the hemorrhagic side 81
Totale 9.979
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Categoria #
all - tutte 157.345
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 157.345
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021776 0 0 0 0 0 0 0 0 0 363 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
2023/20242.578 203 256 467 108 99 324 152 198 39 44 287 401
2024/20254.210 123 166 85 107 170 530 197 382 496 901 540 513
2025/20268.525 1.372 599 603 848 361 404 2.773 539 585 441 0 0
Totale 24.392