IRIS
ASSELTA, ROSANNA
 Distribuzione geografica
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Continente #
NA - Nord America 10.844
AS - Asia 4.833
EU - Europa 2.063
SA - Sud America 1.356
AF - Africa 423
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 8
AN - Antartide 1
Totale 19.537
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Nazione #
US - Stati Uniti d'America 10.667
SG - Singapore 2.892
BR - Brasile 1.158
CN - Cina 1.113
FI - Finlandia 471
IE - Irlanda 347
NG - Nigeria 331
IT - Italia 267
DE - Germania 222
HK - Hong Kong 212
VN - Vietnam 209
FR - Francia 174
GB - Regno Unito 135
NL - Olanda 116
CA - Canada 108
SE - Svezia 97
AR - Argentina 80
RU - Federazione Russa 53
BD - Bangladesh 47
IN - India 47
MX - Messico 41
IL - Israele 38
IQ - Iraq 37
TR - Turchia 37
ZA - Sudafrica 37
ID - Indonesia 31
EC - Ecuador 30
BE - Belgio 28
UA - Ucraina 23
CO - Colombia 22
JP - Giappone 22
PK - Pakistan 22
ES - Italia 18
MA - Marocco 18
UZ - Uzbekistan 18
PL - Polonia 17
CL - Cile 16
PY - Paraguay 14
CH - Svizzera 12
PE - Perù 11
RO - Romania 11
SA - Arabia Saudita 11
VE - Venezuela 11
IR - Iran 10
AE - Emirati Arabi Uniti 9
CZ - Repubblica Ceca 9
EG - Egitto 9
NP - Nepal 9
TN - Tunisia 9
JO - Giordania 8
KG - Kirghizistan 8
KR - Corea 8
PH - Filippine 8
AT - Austria 7
BG - Bulgaria 7
DO - Repubblica Dominicana 7
KE - Kenya 7
NO - Norvegia 7
UY - Uruguay 7
AU - Australia 6
AZ - Azerbaigian 6
BO - Bolivia 6
MD - Moldavia 6
A2 - ???statistics.table.value.countryCode.A2??? 5
JM - Giamaica 5
LB - Libano 5
PT - Portogallo 5
AM - Armenia 4
DZ - Algeria 4
GR - Grecia 4
RS - Serbia 4
SK - Slovacchia (Repubblica Slovacca) 4
TT - Trinidad e Tobago 4
EU - Europa 3
KZ - Kazakistan 3
LV - Lettonia 3
MY - Malesia 3
PA - Panama 3
SN - Senegal 3
TW - Taiwan 3
AL - Albania 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
DK - Danimarca 2
ET - Etiopia 2
GE - Georgia 2
HN - Honduras 2
HU - Ungheria 2
KI - Kiribati 2
KW - Kuwait 2
LT - Lituania 2
NI - Nicaragua 2
OM - Oman 2
PS - Palestinian Territory 2
SV - El Salvador 2
AQ - Antartide 1
BB - Barbados 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
GI - Gibilterra 1
Totale 19.524
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Città #
Wilmington 1.662
Chandler 1.627
Singapore 921
The Dalles 707
San Mateo 696
Shanghai 664
Dallas 493
Helsinki 469
Ann Arbor 455
Dublin 343
Benin City 330
Ashburn 326
Leawood 311
New York 310
Lawrence 302
Princeton 302
Boardman 291
Beijing 245
Hong Kong 211
Paris 164
Woodbridge 150
Fairfield 143
Amsterdam 100
São Paulo 95
Ho Chi Minh City 84
Milan 81
Los Angeles 77
London 71
Columbus 64
Toronto 64
Seattle 59
San Diego 55
Santa Clara 54
Norwalk 48
Council Bluffs 40
Hanoi 38
Phoenix 35
Rio de Janeiro 33
Abbiategrasso 29
Belo Horizonte 27
Brussels 27
Brooklyn 26
Kocaeli 24
Moscow 22
Curitiba 19
Falkenstein 19
Johannesburg 18
Tashkent 18
Tokyo 18
Brasília 17
Montreal 16
Naples 16
San Francisco 16
Porto Alegre 15
Warsaw 15
Sittingbourne 14
Charlotte 13
Munich 13
Santo André 13
Falls Church 12
Atlanta 11
Campinas 11
Cape Town 11
Chicago 11
Erbil 11
Guangzhou 11
Osasco 11
Quito 11
Salvador 11
Boston 10
Dhaka 10
Goiânia 10
Houston 10
Jakarta 10
Monmouth Junction 10
Rome 10
Andover 9
Baghdad 9
Cambridge 9
Chennai 9
Da Nang 9
Des Moines 9
Orem 9
Pune 9
Redmond 9
Stockholm 9
São Bernardo do Campo 9
São José do Rio Preto 9
Zurich 9
Amman 8
Frankfurt am Main 8
Haiphong 8
Lima 8
Maceió 8
Petrópolis 8
Uberlândia 8
Zhengzhou 8
Bishkek 7
Biên Hòa 7
Bogotá 7
Totale 12.898
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Nome #
Esistenza di almeno un quarto locus per l’ADNFLE 187
Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript 130
Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter 121
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 110
Glucocerebrosidase mutations in primary parkinsonism 108
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family 107
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains 106
SER252PHE and 776INS3 Mutations in the CHRNA4 Gene are Rare in the Italian ADNFLE Population 105
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients 104
Genomewide Association Study of Severe Covid-19 with Respiratory Failure 104
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 98
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 98
Characterization of miR-634, a microRNA potentially relevant for multiple sclerosis 97
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients 96
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 96
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 96
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 96
A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family 95
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 94
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene 94
A new exon in the 5’ untranslated region of bovine Connexin32 gene 92
Differential expression of microRNAs in peripheral blood mononuclear cells of Multiple Sclerosis patients 92
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 92
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. 92
Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women. 91
MEDTEC Students against Coronavirus: Investigating the Role of Hemostatic Genes in the Predisposition to COVID-19 Severity 91
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 89
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 88
Exploring the global landscape of genetic variation in coagulation factor XI deficiency 87
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 87
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 86
A functional variant in ERAP1 predisposes to multiple sclerosis 85
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 85
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II 84
Novel fibrinogen gamma-chain mutation p.Asp342Asn (fibrinogen Pisa) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia 84
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease 84
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. 84
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 84
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 83
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. *Shared first authorship 83
Genetic diagnosis of haemophilia and other inherited bleeding disorders 83
The double-faced association of the PRKCA gene with multiple sclerosis 82
Role of the microRNA-183 family in the pathogenesis of hereditary nonsyndromic hearing loss in the Italian population 82
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe FV deficiency 80
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 79
Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management 79
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 78
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis 78
Analisi dei siti di risposta all’interleuchina 6 nel promotore del gene della catena gamma del fibrinogeno umano 78
Afibrinogenemia: un possibile modello per lo studio dei meccanismi responsabili del controllo della sintesi, dell'assemblaggio e della secrezione del fibrinogeno nella specie umana 78
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 78
DNAJC12 and dopa-responsive nonprogressive parkinsonism 78
The molecular basis of quantitative fibrinogen disorders 77
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 77
Clinical relevance of clonal hematopoiesis in persons aged ≥80 years 77
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 76
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 76
Analisi funzionale del promotore della catena gamma del fibrinogeno umano 76
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 75
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 74
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency 74
Phase behavior and critical activated dynamics of limited-valence DNA nanostars 73
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 73
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 73
Identification and characterization of 6 novel genetic defects leading to factor V deficiency 73
Mapping the human genetic architecture of COVID-19 73
Common variants in the hemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population 72
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 72
Identificazione della prima mutazione che causa un’alterazione dello splicing dell’mRNA per la catena gamma del fibrinogeno umano in un caso di afibrinogenemia 72
Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases 72
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation 72
Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis 72
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene 72
Meta-analysis of Multiple Sclerosis microarray data reveals dysregulation in RNA splicing regulatory genes 72
Not only cancer: The long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis 72
Molecular genetics of quantitative fibrinogen disorders 71
Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease 71
Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly 71
Autosomal dominant nocturnal frontal lobe epilepsy: a video-polysomnographic and genetic apprisal of 40 patients and delineation of the epileptic syndrome 71
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 70
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain 70
Autosomal recessive deficiencies of coagulation factors 70
DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease 69
Response: Further thoughts on the "phantom" delta6/7 FXI isoform 69
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels 69
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 69
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies 69
Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions 68
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. 68
Eterogeneità allelica della carenza grave di fattore V della coagulazione: ampliamento dello spettro mutazionale ed espressione delle mutazioni missense identificate 68
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters 68
miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA 68
Impact of prostate cancer screening in European ancestry un‐affected men with germline DNA repair pathogenic variants 67
Factor V deficiency 67
Mutations in disguise 67
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene 67
Congenital afibrinogenemia caused by uniparental isodisomy of chromosome 4 containing a 15-kb deletion involving fibrinogen Aalpha-chain gene 67
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 67
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 66
Molecular characterization of six novel mutations causing factor V deficiency 66
Totale 8.246
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Categoria #
all - tutte 149.030
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 149.030
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20213.010 0 0 0 0 0 943 469 236 586 363 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
2023/20242.578 203 256 467 108 99 324 152 198 39 44 287 401
2024/20254.210 123 166 85 107 170 530 197 382 496 901 540 513
2025/20263.873 1.372 599 603 848 361 90 0 0 0 0 0 0
Totale 19.740