IRIS
IOLASCON, ACHILLE
 Distribuzione geografica
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Continente #
AS - Asia 15.261
NA - Nord America 12.244
EU - Europa 10.051
SA - Sud America 1.990
Continente sconosciuto - Info sul continente non disponibili 634
AF - Africa 426
OC - Oceania 38
Totale 40.644
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Nazione #
US - Stati Uniti d'America 11.655
SG - Singapore 6.761
RU - Federazione Russa 4.613
VN - Vietnam 2.760
CN - Cina 2.646
IT - Italia 1.950
BR - Brasile 1.595
HK - Hong Kong 1.309
FR - Francia 575
DE - Germania 554
FI - Finlandia 431
NL - Olanda 371
IE - Irlanda 357
BD - Bangladesh 349
UA - Ucraina 326
CA - Canada 308
GB - Regno Unito 296
IN - India 291
JP - Giappone 240
AR - Argentina 161
MX - Messico 128
CI - Costa d'Avorio 120
PH - Filippine 111
KR - Corea 106
SE - Svezia 100
IQ - Iraq 96
ZA - Sudafrica 96
ES - Italia 91
ID - Indonesia 77
TH - Thailandia 74
PL - Polonia 68
PK - Pakistan 67
EC - Ecuador 62
AT - Austria 60
BE - Belgio 53
TR - Turchia 52
MA - Marocco 45
TW - Taiwan 42
CO - Colombia 38
VE - Venezuela 32
AU - Australia 31
JM - Giamaica 30
LT - Lituania 30
IL - Israele 29
PY - Paraguay 28
AE - Emirati Arabi Uniti 26
CL - Cile 25
CZ - Repubblica Ceca 23
EG - Egitto 23
SA - Arabia Saudita 23
KE - Kenya 22
UZ - Uzbekistan 22
MY - Malesia 20
PE - Perù 20
DZ - Algeria 19
IR - Iran 19
AZ - Azerbaigian 18
BG - Bulgaria 18
TN - Tunisia 18
CR - Costa Rica 16
JO - Giordania 16
TT - Trinidad e Tobago 16
CH - Svizzera 14
KZ - Kazakistan 14
OM - Oman 14
DO - Repubblica Dominicana 13
NP - Nepal 13
ET - Etiopia 12
DK - Danimarca 11
HN - Honduras 11
UY - Uruguay 11
AL - Albania 10
BO - Bolivia 10
PS - Palestinian Territory 10
BY - Bielorussia 9
NI - Nicaragua 9
PT - Portogallo 9
RO - Romania 9
GT - Guatemala 8
KG - Kirghizistan 8
RS - Serbia 8
BB - Barbados 7
GR - Grecia 7
HU - Ungheria 7
KH - Cambogia 7
LB - Libano 7
PR - Porto Rico 7
SO - Somalia 7
BA - Bosnia-Erzegovina 6
BS - Bahamas 6
CY - Cipro 6
NO - Norvegia 6
PA - Panama 6
EU - Europa 5
GY - Guiana 5
HR - Croazia 5
MD - Moldavia 5
MK - Macedonia 5
NE - Niger 5
NZ - Nuova Zelanda 5
Totale 39.875
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Città #
Singapore 3.066
San Jose 1.853
Hong Kong 1.255
Moscow 1.064
Ashburn 1.002
Ho Chi Minh City 831
Hanoi 636
Beijing 634
Chandler 562
Santa Clara 533
Naples 485
Hefei 470
Lauterbourg 380
The Dalles 374
Los Angeles 368
Millbury 326
Princeton 313
Boston 288
Jacksonville 286
Amsterdam 246
Napoli 221
Nanjing 209
Buffalo 202
New York 200
Tokyo 169
São Paulo 159
Council Bluffs 156
Munich 151
Wilmington 135
Redondo Beach 122
Da Nang 121
Dallas 120
Haiphong 120
Ottawa 103
Des Moines 98
Frankfurt am Main 95
Rome 89
Milan 81
Orem 81
Lawrence 78
Seoul 75
Atlanta 74
Turku 72
Brooklyn 69
Dublin 69
Nanchang 69
Rio de Janeiro 65
Chicago 61
Houston 61
Mexico City 60
Seattle 60
London 58
Hebei 57
Nuremberg 57
Montreal 55
Johannesburg 52
Shenyang 51
Warsaw 51
Baghdad 50
Biên Hòa 49
San Francisco 49
Toronto 47
Denver 45
Chennai 44
Helsinki 44
Tianjin 44
Belo Horizonte 41
Norwalk 41
Redwood City 40
Stockholm 39
Falls Church 35
Hải Dương 34
Brasília 32
Can Tho 32
Fairfield 31
Kochi 31
Mumbai 31
Falkenstein 30
Phoenix 30
Boardman 29
Manchester 29
Poplar 29
Bangkok 27
Ann Arbor 26
Thái Nguyên 26
Curitiba 25
Brussels 24
Dong Ket 24
Vienna 24
Jiaxing 23
Quito 23
Changsha 22
Ninh Bình 22
Campinas 21
Guangzhou 21
San Mateo 21
Philadelphia 20
Shanghai 20
Waanrode 20
Columbus 19
Totale 20.112
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Nome #
Whole-genome sequencing reveals host factors underlying critical COVID-19 632
A first update on mapping the human genetic architecture of COVID-19 331
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II 288
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 233
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 227
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene 224
The Italian Pediatric Survey On Hereditary Spherocytosis 218
CD55 is a HIF-2α marker with anti-adhesive and pro-invading properties in neuroblastoma 213
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 194
An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma 187
Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication 186
Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia 184
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression 183
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma 179
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 177
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 176
Phenotyping neuroblastoma cells through intelligent scrutiny of stain-free biomarkers in holographic flow cytometry 176
RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis 174
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 172
Peroxiredoxin-2: A Novel Regulator of Iron Homeostasis in Ineffective Erythropoiesis 170
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 169
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 168
From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models 167
HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia 167
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA 167
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings 165
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 163
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 162
An explainable model of host genetic interactions linked to COVID-19 severity 159
Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito 158
Nrf2 Plays a Key Role in Erythropoiesis during Aging 157
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 157
Erythroid membrane proteomic 154
Mapping the human genetic architecture of COVID-19 153
Perspectives on liquid biopsy for label‐free detection of “circulating tumor cells” through intelligent lab‐on‐chips 152
Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation 149
Stain-free identification of cell nuclei using tomographic phase microscopy in flow cytometry 149
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients 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 148
Diagnosis and management of congenital dyserythropoietic anemias 146
Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells 145
On the label-free analysis of white blood cells by holographic quantitative phase imaging flow cytometry 144
Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor 144
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1 144
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 143
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 143
A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma 142
Recommendations regarding splenectomy in hereditary hemolytic anemias 141
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 141
NCOA4 Deficiency Impairs Systemic Iron Homeostasis 140
The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma. 139
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 139
Detection of erbB2 copy number variations in plasma of patients with esophageal carcinoma. 138
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 138
Kinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma 138
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 138
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 138
FGFR1 is a potential therapeutic target in neuroblastoma 138
CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity 137
Noncoding Regulatory Mutations as a Driving Event for the Oncogenic Core Regulatory Circuitries of Neuroblastoma 137
Functional characterization of full-length BARD1 strengthens its role as a tumor suppressor in neuroblastoma 137
Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome. 136
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility 136
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 136
19p loss is significantly enriched in older age neuroblastoma patients and correlates with poor prognosis 136
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. 134
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 134
Label-free microfluidic platform for blood analysis based on phase-contrast imaging 134
Exploring shared susceptibility between two neural crest cells originating conditions: Neuroblastoma and congenital heart disease 133
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 133
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients 132
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants 132
Improving single nucleotide polymorphisms genotyping accuracy for dihydropyrimidine dehydrogenase testing in pharmacogenetics 131
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 131
Failure of human rhombic lip differentiation underlies medulloblastoma formation 130
Impact of interleukin-6 -174 G>C gene promoter polymorphism on neuroblastoma. 129
Tomographic flow cytometry as the key-enabling technology for label-free liquid biopsy 129
Differential diagnosis of hereditary anemias from a fraction of blood drop by digital holography and hierarchical machine learning 129
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis 129
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias 128
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. 127
New insights on hereditary erythrocyte membrane defects 127
NCOA4 Links Iron Bioavailability to DNA Metabolism 127
A Targeted Gene Panel for Circulating Tumor DNA Sequencing in Neuroblastoma 127
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation 126
MiR-34a Targeting of Notch Ligand Delta-Like 1 ImpairsCD15+/CD133+ Tumor-Propagating Cells and SupportsNeural Differentiation in 126
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 126
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) 126
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis 126
Tomographic flow cytometry by digital holography 125
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 125
Hereditary stomatocytosis: An underdiagnosed condition 125
Single-cell transcriptomics of neuroblastoma identifies chemoresistance-associated genes and pathways 123
Combinations of genetic data in a study of neuroblastoma risk genotypes 123
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 123
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 123
Rap-011 rescues the disease phenotype in a cellular model of congenital dyserythropoietic anemia type ii by inhibiting the smad2-3 pathway 123
Post-GWAS Functional Analysis of the 11p11.2 Risk Locus Identifies HSD17B12 as a Neuroblastoma Susceptibility Gene Involved in Lipid Metabolism 122
Totale 15.685
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Categoria #
all - tutte 137.314
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 137.314
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.922 0 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
2025/202620.271 2.429 1.636 2.027 1.664 3.174 770 2.044 1.192 2.775 1.317 590 653
2026/2027990 819 171 0 0 0 0 0 0 0 0 0 0
Totale 40.644