IRIS
IOLASCON, ACHILLE
 Distribuzione geografica
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Continente #
AS - Asia 15.031
NA - Nord America 11.063
EU - Europa 9.907
SA - Sud America 1.955
AF - Africa 422
OC - Oceania 37
Continente sconosciuto - Info sul continente non disponibili 8
Totale 38.423
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Nazione #
US - Stati Uniti d'America 10.563
SG - Singapore 6.752
RU - Federazione Russa 4.613
VN - Vietnam 2.757
CN - Cina 2.618
IT - Italia 1.826
BR - Brasile 1.578
HK - Hong Kong 1.303
FR - Francia 572
DE - Germania 553
FI - Finlandia 431
NL - Olanda 369
IE - Irlanda 357
UA - Ucraina 325
GB - Regno Unito 289
IN - India 286
CA - Canada 258
JP - Giappone 240
BD - Bangladesh 183
AR - Argentina 155
MX - Messico 122
CI - Costa d'Avorio 120
PH - Filippine 109
KR - Corea 106
SE - Svezia 100
IQ - Iraq 96
ZA - Sudafrica 96
ES - Italia 89
ID - Indonesia 74
TH - Thailandia 73
PL - Polonia 67
PK - Pakistan 66
AT - Austria 60
EC - Ecuador 59
BE - Belgio 52
TR - Turchia 52
MA - Marocco 45
TW - Taiwan 42
CO - Colombia 33
VE - Venezuela 31
AU - Australia 30
LT - Lituania 30
IL - Israele 28
PY - Paraguay 28
AE - Emirati Arabi Uniti 24
JM - Giamaica 24
CL - Cile 23
CZ - Repubblica Ceca 23
EG - Egitto 23
SA - Arabia Saudita 23
UZ - Uzbekistan 22
KE - Kenya 21
MY - Malesia 20
PE - Perù 20
DZ - Algeria 19
IR - Iran 19
AZ - Azerbaigian 18
BG - Bulgaria 18
TN - Tunisia 18
JO - Giordania 16
CH - Svizzera 14
KZ - Kazakistan 14
OM - Oman 14
TT - Trinidad e Tobago 13
DO - Repubblica Dominicana 12
ET - Etiopia 12
NP - Nepal 12
DK - Danimarca 11
UY - Uruguay 11
AL - Albania 10
BO - Bolivia 10
CR - Costa Rica 10
PS - Palestinian Territory 10
BY - Bielorussia 9
HN - Honduras 9
RO - Romania 9
KG - Kirghizistan 8
NI - Nicaragua 8
PT - Portogallo 8
RS - Serbia 8
BB - Barbados 7
GR - Grecia 7
HU - Ungheria 7
LB - Libano 7
SO - Somalia 7
BA - Bosnia-Erzegovina 6
BS - Bahamas 6
CY - Cipro 6
KH - Cambogia 6
NO - Norvegia 6
EU - Europa 5
GT - Guatemala 5
GY - Guiana 5
HR - Croazia 5
MD - Moldavia 5
MK - Macedonia 5
NE - Niger 5
NZ - Nuova Zelanda 5
PA - Panama 5
SN - Senegal 5
Totale 38.294
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Città #
Singapore 3.063
San Jose 1.780
Hong Kong 1.252
Moscow 1.064
Ashburn 886
Ho Chi Minh City 831
Beijing 634
Hanoi 633
Chandler 561
Santa Clara 490
Naples 482
Hefei 470
Lauterbourg 380
The Dalles 372
Los Angeles 337
Millbury 326
Princeton 313
Boston 287
Jacksonville 286
Amsterdam 246
Napoli 221
Nanjing 209
Buffalo 188
New York 176
Tokyo 169
Munich 151
São Paulo 150
Wilmington 133
Redondo Beach 122
Da Nang 121
Haiphong 120
Council Bluffs 107
Dallas 105
Ottawa 102
Des Moines 96
Frankfurt am Main 95
Lawrence 78
Seoul 75
Orem 74
Turku 72
Nanchang 69
Rome 69
Dublin 68
Brooklyn 66
Rio de Janeiro 64
Mexico City 60
Seattle 59
Atlanta 58
Hebei 57
Nuremberg 57
Chicago 54
London 54
Milan 53
Houston 52
Johannesburg 52
Shenyang 51
Warsaw 51
Baghdad 50
Biên Hòa 49
Montreal 49
Chennai 44
Helsinki 44
Tianjin 44
Belo Horizonte 41
Denver 40
Norwalk 40
Redwood City 40
Toronto 40
Stockholm 39
San Francisco 38
Falls Church 35
Hải Dương 34
Brasília 32
Can Tho 32
Kochi 31
Falkenstein 30
Fairfield 29
Manchester 29
Poplar 29
Boardman 28
Mumbai 28
Ann Arbor 26
Bangkok 26
Phoenix 26
Thái Nguyên 26
Curitiba 25
Dong Ket 24
Vienna 24
Brussels 23
Jiaxing 23
Changsha 22
Ninh Bình 22
Quito 22
Campinas 21
Guangzhou 21
San Mateo 21
Shanghai 20
Waanrode 20
New Delhi 19
Washington 19
Totale 19.576
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Nome #
Whole-genome sequencing reveals host factors underlying critical COVID-19 375
A first update on mapping the human genetic architecture of COVID-19 311
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II 282
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 224
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene 219
The Italian Pediatric Survey On Hereditary Spherocytosis 208
CD55 is a HIF-2α marker with anti-adhesive and pro-invading properties in neuroblastoma 208
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 193
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 192
An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma 186
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression 179
Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication 177
Phenotyping neuroblastoma cells through intelligent scrutiny of stain-free biomarkers in holographic flow cytometry 174
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 171
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 170
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 170
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 166
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings 164
HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia 164
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 164
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA 161
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 161
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 161
Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito 158
An explainable model of host genetic interactions linked to COVID-19 severity 157
Peroxiredoxin-2: A Novel Regulator of Iron Homeostasis in Ineffective Erythropoiesis 157
From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models 156
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 153
Erythroid membrane proteomic 152
Perspectives on liquid biopsy for label‐free detection of “circulating tumor cells” through intelligent lab‐on‐chips 149
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene 148
Association of PARP1 polymorphisms with response to chemotherapy in patients with high-risk neuroblastoma 148
Transcription factors involved in tumorigenesis are over-represented in mutated active DNA-binding sites in neuroblastoma A C 147
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients 147
Stain-free identification of cell nuclei using tomographic phase microscopy in flow cytometry 146
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma 146
On the label-free analysis of white blood cells by holographic quantitative phase imaging flow cytometry 143
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1 143
Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells 142
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 142
Diagnosis and management of congenital dyserythropoietic anemias 142
Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor 142
Mapping the human genetic architecture of COVID-19 141
NCOA4 Deficiency Impairs Systemic Iron Homeostasis 140
The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma. 139
A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma 139
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 139
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 139
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 139
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 137
Functional characterization of full-length BARD1 strengthens its role as a tumor suppressor in neuroblastoma 136
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 136
FGFR1 is a potential therapeutic target in neuroblastoma 136
Noncoding Regulatory Mutations as a Driving Event for the Oncogenic Core Regulatory Circuitries of Neuroblastoma 135
Detection of erbB2 copy number variations in plasma of patients with esophageal carcinoma. 135
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility 135
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 135
Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome. 134
CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity 133
Kinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma 133
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 132
Exploring shared susceptibility between two neural crest cells originating conditions: Neuroblastoma and congenital heart disease 132
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 132
19p loss is significantly enriched in older age neuroblastoma patients and correlates with poor prognosis 132
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients 131
Nrf2 Plays a Key Role in Erythropoiesis during Aging 130
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants 130
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. 130
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 130
Label-free microfluidic platform for blood analysis based on phase-contrast imaging 130
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 129
Improving single nucleotide polymorphisms genotyping accuracy for dihydropyrimidine dehydrogenase testing in pharmacogenetics 127
Impact of interleukin-6 -174 G>C gene promoter polymorphism on neuroblastoma. 127
Recommendations regarding splenectomy in hereditary hemolytic anemias 127
MiR-34a Targeting of Notch Ligand Delta-Like 1 ImpairsCD15+/CD133+ Tumor-Propagating Cells and SupportsNeural Differentiation in 126
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. 126
Tomographic flow cytometry as the key-enabling technology for label-free liquid biopsy 126
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis 126
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation 125
NCOA4 Links Iron Bioavailability to DNA Metabolism 125
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias 125
Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation 124
New insights on hereditary erythrocyte membrane defects 124
Differential diagnosis of hereditary anemias from a fraction of blood drop by digital holography and hierarchical machine learning 124
Tomographic flow cytometry by digital holography 123
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 123
Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein (Frontiers in Physiology, (2019), 10, 10.3389/fphys.2019.00621) 123
Combinations of genetic data in a study of neuroblastoma risk genotypes 122
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis 122
Single-cell transcriptomics of neuroblastoma identifies chemoresistance-associated genes and pathways 121
RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis 121
Post-GWAS Functional Analysis of the 11p11.2 Risk Locus Identifies HSD17B12 as a Neuroblastoma Susceptibility Gene Involved in Lipid Metabolism 121
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d inerythroid cells. 121
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 121
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene 120
The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma. 119
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 119
Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of beta-thalassemia 119
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 118
Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cellline. 118
Totale 14.860
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Categoria #
all - tutte 126.268
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 126.268
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202173 0 0 0 0 0 0 0 0 0 0 0 73
2021/20221.958 36 23 40 53 13 42 68 94 320 118 300 851
2022/20231.739 394 108 67 65 179 161 21 129 267 227 95 26
2023/20241.687 59 237 279 110 60 94 49 235 36 39 348 141
2024/202510.765 565 702 60 134 230 378 1.045 742 1.116 1.107 3.628 1.058
2025/202619.665 2.429 1.636 2.027 1.664 3.174 770 2.044 1.192 2.775 1.317 590 47
Totale 39.048