IRIS
IOLASCON, ACHILLE
 Distribuzione geografica
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Continente #
EU - Europa 7.774
NA - Nord America 5.866
AS - Asia 5.807
SA - Sud America 812
AF - Africa 195
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 6
Totale 20.475
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Nazione #
US - Stati Uniti d'America 5.666
RU - Federazione Russa 3.794
SG - Singapore 3.539
IT - Italia 1.476
HK - Hong Kong 1.046
CN - Cina 764
BR - Brasile 725
DE - Germania 489
FI - Finlandia 425
IE - Irlanda 343
NL - Olanda 319
UA - Ucraina 306
GB - Regno Unito 160
CA - Canada 145
FR - Francia 144
IN - India 118
CI - Costa d'Avorio 117
SE - Svezia 68
AT - Austria 51
JP - Giappone 48
VN - Vietnam 48
BE - Belgio 45
ZA - Sudafrica 36
ES - Italia 34
AR - Argentina 33
MX - Messico 30
KR - Corea 29
BD - Bangladesh 28
TR - Turchia 26
PL - Polonia 25
PK - Pakistan 23
IQ - Iraq 20
CZ - Repubblica Ceca 17
LT - Lituania 17
VE - Venezuela 17
IL - Israele 15
IR - Iran 15
AU - Australia 14
MA - Marocco 14
PH - Filippine 14
AE - Emirati Arabi Uniti 13
BG - Bulgaria 12
UZ - Uzbekistan 12
CH - Svizzera 11
SA - Arabia Saudita 10
EC - Ecuador 9
CO - Colombia 7
DK - Danimarca 7
KE - Kenya 7
DZ - Algeria 6
EG - Egitto 6
JM - Giamaica 6
PE - Perù 6
TT - Trinidad e Tobago 6
CL - Cile 5
EU - Europa 5
KZ - Kazakistan 5
MY - Malesia 5
PT - Portogallo 5
PY - Paraguay 5
TW - Taiwan 5
RO - Romania 4
RS - Serbia 4
AL - Albania 3
AZ - Azerbaigian 3
BB - Barbados 3
BO - Bolivia 3
BY - Bielorussia 3
GR - Grecia 3
KG - Kirghizistan 3
NP - Nepal 3
OM - Oman 3
CR - Costa Rica 2
CY - Cipro 2
DM - Dominica 2
HR - Croazia 2
LU - Lussemburgo 2
NO - Norvegia 2
PA - Panama 2
TN - Tunisia 2
UY - Uruguay 2
A1 - Anonimo 1
AM - Armenia 1
AO - Angola 1
BH - Bahrain 1
BS - Bahamas 1
CM - Camerun 1
DO - Repubblica Dominicana 1
GE - Georgia 1
GN - Guinea 1
HN - Honduras 1
ID - Indonesia 1
IS - Islanda 1
JO - Giordania 1
LB - Libano 1
LK - Sri Lanka 1
LY - Libia 1
MK - Macedonia 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
Totale 20.468
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Città #
Singapore 1.806
Hong Kong 1.042
Moscow 922
Chandler 561
Santa Clara 444
Naples 406
Ashburn 342
Millbury 329
Princeton 317
Jacksonville 287
Boston 264
Napoli 222
Amsterdam 219
Nanjing 203
Munich 148
Wilmington 133
Ottawa 103
Beijing 97
Des Moines 95
Lawrence 77
Hefei 73
Nanchang 71
Turku 70
São Paulo 61
Hebei 58
Dublin 55
Los Angeles 54
Nuremberg 53
Shenyang 50
Seattle 48
The Dalles 46
Frankfurt am Main 45
Rome 43
Helsinki 40
Norwalk 40
Redwood City 40
Falls Church 36
Milan 32
Rio de Janeiro 31
Falkenstein 30
Kochi 30
Fairfield 29
Houston 29
Brooklyn 27
Ann Arbor 26
Seoul 26
Tianjin 26
Dong Ket 24
Jiaxing 23
San Francisco 23
Vienna 22
Belo Horizonte 21
San Mateo 21
Changsha 20
New York 20
Waanrode 20
Brussels 19
Ōtemachi 19
London 18
Orange 18
Woodbridge 18
Brasília 17
Dallas 17
Sant'agata De' Goti 17
Shanghai 17
Washington 16
Boardman 15
Mexico City 15
Columbus 14
Hangzhou 14
Kronberg 14
Redmond 14
Campinas 13
Chicago 13
Indiana 13
Kunming 13
Toronto 13
Warsaw 13
Baghdad 12
Düsseldorf 12
Islamabad 12
Ardabil 11
Lauterbourg 11
Porto Alegre 11
Salerno 11
Bexley 10
Fortaleza 10
Jerusalem 10
Lappeenranta 10
Padova 10
Sofia 10
Tashkent 10
Curitiba 9
Mumbai 9
Phoenix 9
Portsmouth 9
Stockholm 9
Cape Town 8
Casalnuovo di Napoli 8
Chennai 8
Totale 9.939
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Nome #
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II 256
A first update on mapping the human genetic architecture of COVID-19 170
The Italian Pediatric Survey On Hereditary Spherocytosis 153
Whole-genome sequencing reveals host factors underlying critical COVID-19 149
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene 138
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings 115
An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma 114
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 111
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 100
Sferocitosi Ereditaria ed Ellissocitosi ereditaria 98
HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia 95
Erythroid membrane proteomic 93
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 93
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression 92
Perspectives on liquid biopsy for label‐free detection of “circulating tumor cells” through intelligent lab‐on‐chips 92
Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing 91
CD55 is a HIF-2α marker with anti-adhesive and pro-invading properties in neuroblastoma 90
Association of PARP1 polymorphisms with response to chemotherapy in patients with high-risk neuroblastoma 88
A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma 87
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 87
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 86
NCOA4 Deficiency Impairs Systemic Iron Homeostasis 86
Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells 83
Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito 82
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 81
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 81
Diagnosis and management of congenital dyserythropoietic anemias 80
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients 80
Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor 79
Peroxiredoxin-2: A Novel Regulator of Iron Homeostasis in Ineffective Erythropoiesis 79
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 79
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA 78
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 77
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 77
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 77
The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma. 76
Recommendations regarding splenectomy in hereditary hemolytic anemias 76
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 76
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 74
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis 74
FGFR1 is a potential therapeutic target in neuroblastoma 74
Stain-free identification of cell nuclei using tomographic phase microscopy in flow cytometry 73
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. 73
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 73
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 73
Detection of erbB2 copy number variations in plasma of patients with esophageal carcinoma. 72
Chromosome 9q and 16q loss identified by genome-wide pooled-analysis are associated with tumor aggressiveness in patients with classic medulloblastoma. 72
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 72
Hereditary stomatocytosis: An underdiagnosed condition 72
Genetic counseling during COVID-19 pandemic: Tuscany experience 72
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload 71
19p loss is significantly enriched in older age neuroblastoma patients and correlates with poor prognosis 71
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 71
Label-free microfluidic platform for blood analysis based on phase-contrast imaging 71
Nrf2 Plays a Key Role in Erythropoiesis during Aging 70
MiR-34a Targeting of Notch Ligand Delta-Like 1 ImpairsCD15+/CD133+ Tumor-Propagating Cells and SupportsNeural Differentiation in 70
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 70
Transcription factors involved in tumorigenesis are over-represented in mutated active DNA-binding sites in neuroblastoma A C 70
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 70
Differential diagnosis of hereditary anemias from a fraction of blood drop by digital holography and hierarchical machine learning 70
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1 70
Mapping the human genetic architecture of COVID-19 69
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. 69
Impact of interleukin-6 -174 G>C gene promoter polymorphism on neuroblastoma. 69
Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of beta-thalassemia 69
Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome. 68
Proteomic alterations in response to Hypoxia Inducible Factor 2α in normoxic Neuroblastoma cells 68
NCOA4 Links Iron Bioavailability to DNA Metabolism 68
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells. 67
Integration of Pharmacogenetics and Pharmacogenomics in Drug Development: Implications for Regulatory and Medical Decision Making in Pediatric Diseases. 67
The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma. 67
Combinations of genetic data in a study of neuroblastoma risk genotypes 67
Functional characterization of full-length BARD1 strengthens its role as a tumor suppressor in neuroblastoma 67
Tomographic flow cytometry as the key-enabling technology for label-free liquid biopsy 67
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. 66
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 66
Exploring shared susceptibility between two neural crest cells originating conditions: Neuroblastoma and congenital heart disease 66
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 66
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene 65
A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis. 65
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility 65
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 65
Noncoding Regulatory Mutations as a Driving Event for the Oncogenic Core Regulatory Circuitries of Neuroblastoma 64
Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci. 64
New insights on hereditary erythrocyte membrane defects 64
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d inerythroid cells. 63
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. 63
Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene. 63
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 63
Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP+ as Parkinson's disease cellular model 63
Erratum to: Association Study between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population (Journal of Cardiovascular Translational Research, (2017), 10, 5-6, (455-458), 10.1007/s12265-017-9758-9) 63
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene 63
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 63
Cytokine gene polymorphisms in Italian preterm infants: association between interleukin-10 -1082 G/A polymorphism and respiratory distress syndrome. 62
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores 62
Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication 61
Thrombophilia in thalassemia major patients: analysis of genetic predisposing factors. 61
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. 61
The role of TMPRSS6 and HFE variants in iron deficiency anemia in celiac disease 61
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 61
Totale 7.924
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Categoria #
all - tutte 87.846
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 87.846
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021996 41 56 142 71 67 99 104 33 121 40 149 73
2021/20221.974 36 23 40 53 13 42 68 94 323 121 300 861
2022/20231.749 398 108 67 65 179 161 21 129 267 233 95 26
2023/20241.706 59 238 285 110 61 95 49 240 36 40 350 143
2024/202510.858 569 708 60 136 233 381 1.053 745 1.133 1.118 3.658 1.064
2025/20261.536 1.536 0 0 0 0 0 0 0 0 0 0 0
Totale 21.084