IOLASCON, ACHILLE
 Distribuzione geografica
Continente #
NA - Nord America 4.324
EU - Europa 2.825
AS - Asia 1.481
AF - Africa 129
Continente sconosciuto - Info sul continente non disponibili 6
SA - Sud America 6
OC - Oceania 3
Totale 8.774
Nazione #
US - Stati Uniti d'America 4.213
IT - Italia 1.198
SG - Singapore 713
CN - Cina 621
IE - Irlanda 332
FI - Finlandia 318
UA - Ucraina 287
NL - Olanda 239
DE - Germania 156
CI - Costa d'Avorio 117
CA - Canada 106
GB - Regno Unito 69
SE - Svezia 63
FR - Francia 46
JP - Giappone 34
BE - Belgio 31
IN - India 31
ES - Italia 25
VN - Vietnam 24
IR - Iran 14
IL - Israele 11
BG - Bulgaria 10
PK - Pakistan 9
CH - Svizzera 8
PL - Polonia 8
DK - Danimarca 7
TR - Turchia 7
CZ - Repubblica Ceca 5
EU - Europa 5
MX - Messico 5
RU - Federazione Russa 5
AT - Austria 4
DZ - Algeria 4
ZA - Sudafrica 4
AU - Australia 3
BR - Brasile 3
LT - Lituania 3
MY - Malesia 3
PH - Filippine 3
RO - Romania 3
CY - Cipro 2
EC - Ecuador 2
HK - Hong Kong 2
IQ - Iraq 2
KR - Corea 2
NO - Norvegia 2
SA - Arabia Saudita 2
A1 - Anonimo 1
BY - Bielorussia 1
CM - Camerun 1
GN - Guinea 1
GR - Grecia 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MA - Marocco 1
MK - Macedonia 1
NG - Nigeria 1
PE - Perù 1
RS - Serbia 1
SM - San Marino 1
Totale 8.774
Città #
Chandler 570
Singapore 516
Millbury 330
Princeton 317
Naples 301
Jacksonville 286
Boston 250
Ashburn 233
Napoli 233
Amsterdam 213
Nanjing 203
Wilmington 133
Santa Clara 105
Beijing 96
Ottawa 96
Des Moines 95
Lawrence 79
Nanchang 71
Hebei 58
Shenyang 50
Dublin 45
Redwood City 40
Norwalk 39
Falls Church 36
Fairfield 29
Ann Arbor 27
Tianjin 26
Dong Ket 24
Houston 24
Los Angeles 24
Jiaxing 23
Rome 22
San Mateo 21
Waanrode 20
Woodbridge 19
Ōtemachi 19
Changsha 18
Orange 18
Sant'agata De' Goti 17
Washington 16
Kronberg 14
Redmond 14
Hangzhou 13
Indiana 13
Milan 13
Shanghai 13
Kunming 12
Ardabil 11
Boardman 10
Lappeenranta 10
Islamabad 9
Sofia 9
Jerusalem 8
San Giorgio A Cremano 8
Seattle 8
Tiggiano 8
Bacoli 7
Formia 7
Helsinki 7
Leawood 7
Monmouth Junction 7
Brussels 6
Changchun 6
Genova 6
Giugliano In Campania 6
Marano 6
San Cesareo 6
Selargius 6
Waldbuttelbrunn 6
Barcelona 5
Caserta 5
Collegno 5
Ficarazzi 5
Frankfurt am Main 5
Padova 5
Pozzuoli 5
Salerno 5
Vazzola 5
Augusta 4
Brusciano 4
Cape Town 4
Frederiksberg 4
Fuzhou 4
Kōenjiminami 4
Lanzhou 4
León 4
Madrid 4
Mountain View 4
Mumbai 4
Osimo 4
Pescara 4
Pune 4
Siano 4
Summa 4
Takahanadai 4
Trieste 4
Verona 4
Warsaw 4
Zola Predosa 4
Arzano 3
Totale 5.130
Nome #
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II 232
The Italian Pediatric Survey On Hereditary Spherocytosis 122
Sferocitosi Ereditaria ed Ellissocitosi ereditaria 85
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene 79
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 74
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings 73
Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing 72
An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma 67
A first update on mapping the human genetic architecture of COVID-19 58
A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma 57
NCOA4 Deficiency Impairs Systemic Iron Homeostasis 57
HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia 57
Erythroid membrane proteomic 54
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 54
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. 53
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload 53
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression 52
Association of PARP1 polymorphisms with response to chemotherapy in patients with high-risk neuroblastoma 51
Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells 50
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 49
CD55 is a HIF-2α marker with anti-adhesive and pro-invading properties in neuroblastoma 48
A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis. 47
Perspectives on liquid biopsy for label‐free detection of “circulating tumor cells” through intelligent lab‐on‐chips 47
Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito 46
Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosis. 43
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). 43
Recommendations regarding splenectomy in hereditary hemolytic anemias 43
Hereditary stomatocytosis: An underdiagnosed condition 43
Diagnosis and management of congenital dyserythropoietic anemias 42
Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor 42
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 41
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 41
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SLC11A2) 40
Peroxiredoxin-2: A Novel Regulator of Iron Homeostasis in Ineffective Erythropoiesis 40
Chromosome 9q and 16q loss identified by genome-wide pooled-analysis are associated with tumor aggressiveness in patients with classic medulloblastoma. 38
19p loss is significantly enriched in older age neuroblastoma patients and correlates with poor prognosis 38
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 37
Proteomic alterations in response to Hypoxia Inducible Factor 2α in normoxic Neuroblastoma cells 37
NCOA4 Links Iron Bioavailability to DNA Metabolism 37
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. 36
Glucose-6-phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia. 36
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. 36
Combinations of genetic data in a study of neuroblastoma risk genotypes 36
Association Study Between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population 36
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 36
Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of beta-thalassemia 36
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 36
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients 36
Impact of interleukin-6 -174 G>C gene promoter polymorphism on neuroblastoma. 35
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 35
Label-free microfluidic platform for blood analysis based on phase-contrast imaging 35
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 34
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 34
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 34
Common genetic variants in NEFL influence gene expression and neuroblastoma risk. 33
Advances in understanding the pathogenesis of red cell membrane disorders 33
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA 33
Tomographic flow cytometry as the key-enabling technology for label-free liquid biopsy 33
Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene. 32
A Deletional Frameshift Mutation In Spectrin Beta-gene Associated With Hereditary Elliptocytosis In Spectrin Napoli 32
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility 32
Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma 32
The role of TMPRSS6 and HFE variants in iron deficiency anemia in celiac disease 32
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) 32
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 32
FGFR1 is a potential therapeutic target in neuroblastoma 32
Cytokine gene polymorphisms in Italian preterm infants: association between interleukin-10 -1082 G/A polymorphism and respiratory distress syndrome. 31
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. 31
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia 31
The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma. 31
Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism 31
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia 31
Tomographic flow cytometry by digital holography 31
Transcription factors involved in tumorigenesis are over-represented in mutated active DNA-binding sites in neuroblastoma A C 31
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 31
Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome. 30
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis 30
MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. 30
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. 30
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 30
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 30
Cell Ploidy In 19 Wilms-tumors Studied By Flow-cytometry of Cell-suspensions Prepared From Paraffin Embedded Sections 29
4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis 29
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. 29
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 29
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis 29
MiR-34a Targeting of Notch Ligand Delta-Like 1 ImpairsCD15+/CD133+ Tumor-Propagating Cells and SupportsNeural Differentiation in 28
The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma. 28
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. 28
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. 28
Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP+ as Parkinson's disease cellular model 28
How I Diagnose Non-thalassemic Microcytic Anemias 28
Dietary ω-3 fatty acids protect against vasculopathy in a transgenic mouse model of sickle cell disease 28
New insights on hereditary erythrocyte membrane defects 28
Data demonstrating the role of peroxiredoxin 2 as important anti-oxidant system in lung homeostasis 28
Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M 28
Fyn kinase is a novel modulator of erythropoietin signaling and stress erythropoiesis 28
Exploring shared susceptibility between two neural crest cells originating conditions: Neuroblastoma and congenital heart disease 28
Functional characterization of full-length BARD1 strengthens its role as a tumor suppressor in neuroblastoma 28
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene. 28
Totale 4.157
Categoria #
all - tutte 45.290
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 45.290


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020967 397 2 60 24 89 28 19 12 5 63 141 127
2020/20211.004 41 56 145 71 67 101 104 33 121 40 146 79
2021/20221.994 40 23 40 53 13 45 68 99 326 122 301 864
2022/20231.767 400 113 66 66 179 163 22 132 267 234 99 26
2023/20241.749 60 242 285 113 63 102 52 246 36 49 355 146
2024/2025565 565 0 0 0 0 0 0 0 0 0 0 0
Totale 9.349