IRIS
ANDOLFO, IMMACOLATA
 Distribuzione geografica
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Continente #
NA - Nord America 1.633
EU - Europa 1.167
AS - Asia 1.123
SA - Sud America 85
AF - Africa 65
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 2
Totale 4.084
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Nazione #
US - Stati Uniti d'America 1.599
SG - Singapore 621
IT - Italia 588
HK - Hong Kong 259
CN - Cina 170
NL - Olanda 130
RU - Federazione Russa 128
BR - Brasile 74
DE - Germania 68
IE - Irlanda 66
CI - Costa d'Avorio 58
FI - Finlandia 55
GB - Regno Unito 34
FR - Francia 31
CA - Canada 26
AT - Austria 16
IN - India 15
VN - Vietnam 15
PK - Pakistan 10
PH - Filippine 9
AU - Australia 8
BG - Bulgaria 8
CH - Svizzera 8
ES - Italia 7
TR - Turchia 6
BE - Belgio 5
LT - Lituania 5
MX - Messico 5
UA - Ucraina 5
AR - Argentina 4
IL - Israele 4
SE - Svezia 4
EG - Egitto 3
IR - Iran 3
PL - Polonia 3
AE - Emirati Arabi Uniti 2
CL - Cile 2
CZ - Repubblica Ceca 2
EU - Europa 2
MK - Macedonia 2
VE - Venezuela 2
AM - Armenia 1
BD - Bangladesh 1
BO - Bolivia 1
CO - Colombia 1
CR - Costa Rica 1
EC - Ecuador 1
GE - Georgia 1
HR - Croazia 1
IQ - Iraq 1
JM - Giamaica 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MA - Marocco 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
PA - Panama 1
SA - Arabia Saudita 1
SO - Somalia 1
TW - Taiwan 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 4.084
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Città #
Singapore 335
Hong Kong 257
Chandler 245
Naples 195
Santa Clara 167
Amsterdam 100
Ashburn 96
Millbury 92
Napoli 76
Boston 53
Des Moines 51
Lawrence 51
Nanjing 38
Princeton 37
Wilmington 36
Beijing 35
Dublin 20
Helsinki 18
Rome 18
Milan 17
Ottawa 17
Falkenstein 16
Seattle 15
Dong Ket 14
Los Angeles 14
Nanchang 13
Shenyang 13
Columbus 12
Moscow 11
Nuremberg 11
San Giorgio A Cremano 10
Fairfield 9
Islamabad 9
Hebei 8
San Mateo 8
Sofia 8
The Dalles 8
Vienna 8
Frankfurt am Main 7
São Paulo 7
Washington 7
Boydton 6
Jiaxing 6
Munich 6
San Cesareo 6
Selargius 6
Tianjin 6
Brussels 5
Changsha 5
Düsseldorf 5
Genova 5
Portici 5
Rio de Janeiro 5
Rochdale 5
Salerno 5
Toronto 5
Aversa 4
Caserta 4
Houston 4
Istanbul 4
Kronberg 4
Lappeenranta 4
London 4
New York 4
Norwalk 4
Padova 4
Pompei 4
Shanghai 4
Zhengzhou 4
Zola Predosa 4
Basel 3
Belo Horizonte 3
Boardman 3
Brasília 3
Castellammare di Stabia 3
Dallas 3
Geneva 3
Haifa 3
Hangzhou 3
Jinan 3
Krefeld 3
Lauterbourg 3
Manassas 3
Melbourne 3
Monmouth Junction 3
Mumbai 3
Redwood City 3
San Giorgio a Cremano 3
Stockholm 3
Turin 3
Americana 2
Ann Arbor 2
Ardabil 2
Augusta 2
Barcelona 2
Bergamo 2
Bhubaneswar 2
Bloomington 2
Cairo 2
Caivano 2
Totale 2.379
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Nome #
A first update on mapping the human genetic architecture of COVID-19 113
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 72
Whole-genome sequencing reveals host factors underlying critical COVID-19 70
MicroRNA 199b-5p delivery through stable nucleic acid lipid particles (SNALPs) in tumorigenic cell lines 67
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 62
Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells 60
Dysregulation of lipid metabolism and pathological inflammation in patients with COVID-19. 60
Recommendations regarding splenectomy in hereditary hemolytic anemias 55
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA 53
Diagnosis and management of congenital dyserythropoietic anemias 52
Hereditary stomatocytosis: An underdiagnosed condition 52
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 51
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients 51
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 50
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. 50
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 50
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis 50
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 50
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 49
Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of beta-thalassemia 49
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 48
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 48
Chromosome 9q and 16q loss identified by genome-wide pooled-analysis are associated with tumor aggressiveness in patients with classic medulloblastoma. 47
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 46
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 46
MiR-34a Targeting of Notch Ligand Delta-Like 1 ImpairsCD15+/CD133+ Tumor-Propagating Cells and SupportsNeural Differentiation in 45
The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma. 45
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 45
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 45
The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism 45
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 44
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 44
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells. 43
Detection of erbB2 copy number variations in plasma of patients with esophageal carcinoma. 43
The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma. 43
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 43
Correlation of NM23-H1 cytoplasmic expressionwith metastatic stage in human prostate cancer tissue 42
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia 42
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 42
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 41
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 41
Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP+ as Parkinson's disease cellular model 40
Advances in understanding the pathogenesis of red cell membrane disorders 40
Mapping the human genetic architecture of COVID-19 39
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 39
Dietary ω-3 fatty acids protect against vasculopathy in a transgenic mouse model of sickle cell disease 39
Differential diagnosis of hereditary anemias from a fraction of blood drop by digital holography and hierarchical machine learning 39
Nrf2 Plays a Key Role in Erythropoiesis during Aging 38
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. 38
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores 38
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 38
New insights on hereditary erythrocyte membrane defects 37
Data demonstrating the role of peroxiredoxin 2 as important anti-oxidant system in lung homeostasis 37
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 37
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 37
MicroRNAs and Cancer Stem Cells in Medulloblastoma 36
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 36
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 36
SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells. 35
Peroxiredoxin-2 plays a pivotal role as multimodal cytoprotector in the early phase of pulmonary hypertension 35
Congenital dyserythropoietic anemias 35
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 35
Rapid Cl-/HCOFormula exchange kinetics of AE1 in HEK293 cells and hereditary stomatocytosis red blood cells 34
Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia 34
Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M 34
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations 33
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d inerythroid cells. 33
Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations 33
Hereditary xerocytosis revisited 32
Resolution of sickle cell disease–associated inflammation and tissue damage with 17R-resolvin D1 32
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) 32
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene 31
Next generation research and therapy in red blood cell diseases 31
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias 31
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: A case report and a brief review of literature 31
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants 30
Kinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma 30
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene 30
Targeted Next Generation Sequencing Identifies a Novel ß-spectrin gene mutation A2059P in two Omani children with Hereditary Pyropoikilocytosis 28
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients 28
Recommendations for Pregnancy in Rare Inherited Anemias 28
Rap-011 rescues the disease phenotype in a cellular model of congenital dyserythropoietic anemia type ii by inhibiting the smad2-3 pathway 28
A role of PIEZO1 in iron metabolism in mice and humans 28
Recommendations for diagnosis and treatment of methemoglobinemia 28
Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication 27
Red cells in post-genomic era: Impact of personalized medicine in the treatment of anemias 27
Inherited microcytic anemias 27
The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation 27
Genetic mechanisms of critical illness in COVID-19 26
Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias 25
Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge 25
Recommendations for pregnancy in Fanconi anemia 25
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II 24
Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia 24
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes 23
The european hematology association roadmap for european hematology research: A consensus document. 23
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Imparing Glycosylation Pathway in Human Hepatic Cells 23
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients 21
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia 21
A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity 20
Totale 3.945
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Categoria #
all - tutte 23.115
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 23.115
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202058 0 0 0 0 0 0 0 0 0 21 31 6
2020/2021181 2 0 38 14 2 11 25 3 23 3 30 30
2021/2022550 7 0 8 12 3 5 48 48 48 33 127 211
2022/2023693 92 66 30 16 73 63 7 57 129 101 47 12
2023/2024626 28 100 119 49 27 30 26 83 9 16 102 37
2024/20251.840 139 174 29 76 144 193 391 305 318 71 0 0
Totale 4.318