IOLASCON, ACHILLE
 Distribuzione geografica
Continente #
NA - Nord America 5.041
EU - Europa 3.000
AS - Asia 2.675
AF - Africa 131
SA - Sud America 14
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 6
Totale 10.877
Nazione #
US - Stati Uniti d'America 4.921
SG - Singapore 1.262
IT - Italia 1.242
CN - Cina 681
HK - Hong Kong 569
IE - Irlanda 341
FI - Finlandia 335
UA - Ucraina 287
NL - Olanda 253
DE - Germania 173
CI - Costa d'Avorio 118
CA - Canada 112
GB - Regno Unito 81
SE - Svezia 62
FR - Francia 53
RU - Federazione Russa 45
IN - India 37
JP - Giappone 35
BE - Belgio 33
ES - Italia 25
VN - Vietnam 25
IR - Iran 14
CZ - Repubblica Ceca 13
IL - Israele 12
PK - Pakistan 11
AU - Australia 10
BG - Bulgaria 10
BR - Brasile 10
CH - Svizzera 9
TR - Turchia 9
PL - Polonia 8
DK - Danimarca 7
MX - Messico 7
AT - Austria 6
EU - Europa 5
DZ - Algeria 4
MY - Malesia 4
PH - Filippine 4
ZA - Sudafrica 4
GR - Grecia 3
LT - Lituania 3
RO - Romania 3
AE - Emirati Arabi Uniti 2
CY - Cipro 2
EC - Ecuador 2
IQ - Iraq 2
KR - Corea 2
KZ - Kazakistan 2
NO - Norvegia 2
SA - Arabia Saudita 2
A1 - Anonimo 1
BY - Bielorussia 1
CL - Cile 1
CM - Camerun 1
GN - Guinea 1
JM - Giamaica 1
LU - Lussemburgo 1
MA - Marocco 1
MK - Macedonia 1
NG - Nigeria 1
PE - Perù 1
PT - Portogallo 1
RS - Serbia 1
SM - San Marino 1
SO - Somalia 1
Totale 10.877
Città #
Singapore 1.052
Hong Kong 567
Chandler 566
Santa Clara 426
Millbury 331
Naples 322
Princeton 317
Jacksonville 286
Boston 249
Ashburn 238
Napoli 224
Amsterdam 212
Nanjing 203
Wilmington 134
Ottawa 99
Beijing 97
Des Moines 95
Lawrence 78
Nanchang 71
Hebei 58
Dublin 54
Shenyang 50
Seattle 43
Redwood City 40
Norwalk 39
Falls Church 36
Fairfield 29
Ann Arbor 26
Tianjin 26
Dong Ket 24
Houston 24
Los Angeles 24
Rome 24
Jiaxing 23
Helsinki 21
Milan 21
San Mateo 21
Changsha 20
Waanrode 20
Ōtemachi 19
Orange 18
Woodbridge 18
Sant'agata De' Goti 17
Shanghai 15
Washington 15
Hangzhou 14
Kronberg 14
Redmond 14
Boardman 13
Indiana 13
Kunming 13
Moscow 13
Columbus 12
Ardabil 11
Islamabad 10
Lappeenranta 10
Sofia 9
Brussels 8
Jerusalem 8
Munich 8
San Giorgio A Cremano 8
Tiggiano 8
Bacoli 7
Caserta 7
Changchun 7
Frankfurt am Main 7
Leawood 7
Monmouth Junction 7
New York 7
Padova 7
Salerno 7
Boydton 6
Ercolano 6
Formia 6
Genova 6
Giugliano In Campania 6
Marano 6
Mumbai 6
San Cesareo 6
Selargius 6
Waldbuttelbrunn 6
Afragola 5
Barcelona 5
Dallas 5
Ficarazzi 5
Portici 5
Pozzuoli 5
Vazzola 5
Augusta 4
Brusciano 4
Cape Town 4
Collegno 4
Frederiksberg 4
Fuzhou 4
Kōenjiminami 4
Lanzhou 4
León 4
London 4
Mountain View 4
Olomouc 4
Totale 6.684
Nome #
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II 238
The Italian Pediatric Survey On Hereditary Spherocytosis 135
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene 93
A first update on mapping the human genetic architecture of COVID-19 89
Sferocitosi Ereditaria ed Ellissocitosi ereditaria 87
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings 83
An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma 77
Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing 76
A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma 65
HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia 65
Erythroid membrane proteomic 61
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression 61
NCOA4 Deficiency Impairs Systemic Iron Homeostasis 61
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 61
Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells 57
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload 56
CD55 is a HIF-2α marker with anti-adhesive and pro-invading properties in neuroblastoma 56
Perspectives on liquid biopsy for label‐free detection of “circulating tumor cells” through intelligent lab‐on‐chips 56
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 56
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. 55
Association of PARP1 polymorphisms with response to chemotherapy in patients with high-risk neuroblastoma 55
A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis. 52
Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito 50
Recommendations regarding splenectomy in hereditary hemolytic anemias 49
Hereditary stomatocytosis: An underdiagnosed condition 49
Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosis. 48
Diagnosis and management of congenital dyserythropoietic anemias 48
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 48
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). 47
Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor 47
Peroxiredoxin-2: A Novel Regulator of Iron Homeostasis in Ineffective Erythropoiesis 47
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 47
Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of beta-thalassemia 47
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 45
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 45
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients 45
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SLC11A2) 44
Glucose-6-phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia. 44
NCOA4 Links Iron Bioavailability to DNA Metabolism 44
19p loss is significantly enriched in older age neuroblastoma patients and correlates with poor prognosis 44
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 43
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 43
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 42
Chromosome 9q and 16q loss identified by genome-wide pooled-analysis are associated with tumor aggressiveness in patients with classic medulloblastoma. 42
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. 42
Proteomic alterations in response to Hypoxia Inducible Factor 2α in normoxic Neuroblastoma cells 42
The role of TMPRSS6 and HFE variants in iron deficiency anemia in celiac disease 42
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 42
Transcription factors involved in tumorigenesis are over-represented in mutated active DNA-binding sites in neuroblastoma A C 42
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA 42
Association Study Between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population 41
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 41
Label-free microfluidic platform for blood analysis based on phase-contrast imaging 41
Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome. 40
Impact of interleukin-6 -174 G>C gene promoter polymorphism on neuroblastoma. 40
Combinations of genetic data in a study of neuroblastoma risk genotypes 40
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) 40
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 39
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 39
Tomographic flow cytometry as the key-enabling technology for label-free liquid biopsy 39
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis 39
A Novel epsilon gamma delta beta-Thalassemia Deletion Associated with Severe Anemia at Birth and a beta-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family 39
FGFR1 is a potential therapeutic target in neuroblastoma 39
Advances in understanding the pathogenesis of red cell membrane disorders 38
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 38
Cytokine gene polymorphisms in Italian preterm infants: association between interleukin-10 -1082 G/A polymorphism and respiratory distress syndrome. 37
Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene. 37
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia 37
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 37
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 37
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. 36
MiR-34a Targeting of Notch Ligand Delta-Like 1 ImpairsCD15+/CD133+ Tumor-Propagating Cells and SupportsNeural Differentiation in 36
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. 36
The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma. 36
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility 36
How I Diagnose Non-thalassemic Microcytic Anemias 36
New insights on hereditary erythrocyte membrane defects 36
Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma 36
Tomographic flow cytometry by digital holography 36
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 36
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia 35
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis 35
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells. 35
The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma. 35
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. 35
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. 35
Common genetic variants in NEFL influence gene expression and neuroblastoma risk. 35
Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism 35
Fyn kinase is a novel modulator of erythropoietin signaling and stress erythropoiesis 35
Functional characterization of full-length BARD1 strengthens its role as a tumor suppressor in neuroblastoma 35
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 35
Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report 35
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 35
MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. 34
4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis 34
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 34
Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP+ as Parkinson's disease cellular model 34
Data demonstrating the role of peroxiredoxin 2 as important anti-oxidant system in lung homeostasis 34
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 34
Differential diagnosis of hereditary anemias from a fraction of blood drop by digital holography and hierarchical machine learning 34
Totale 4.786
Categoria #
all - tutte 61.413
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 61.413


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020367 0 0 0 0 0 0 19 12 5 63 141 127
2020/20211.001 41 56 145 71 67 101 104 33 121 40 149 73
2021/20221.978 36 23 40 53 13 42 68 94 324 121 301 863
2022/20231.756 399 110 67 66 179 163 21 129 268 233 95 26
2023/20241.715 60 240 285 110 62 98 49 241 36 40 350 144
2024/20252.755 570 709 60 136 234 382 664 0 0 0 0 0
Totale 11.475