IRIS
RUSSO, ROBERTA
 Distribuzione geografica
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Continente #
NA - Nord America 1.479
EU - Europa 886
AS - Asia 622
AF - Africa 63
SA - Sud America 7
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 2
Totale 3.065
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Nazione #
US - Stati Uniti d'America 1.457
IT - Italia 494
SG - Singapore 347
CN - Cina 200
NL - Olanda 86
IE - Irlanda 76
CI - Costa d'Avorio 61
DE - Germania 51
FI - Finlandia 48
GB - Regno Unito 32
IN - India 24
CA - Canada 18
RU - Federazione Russa 18
FR - Francia 17
SE - Svezia 13
VN - Vietnam 13
ES - Italia 11
IL - Israele 11
PK - Pakistan 10
CH - Svizzera 7
AU - Australia 6
BR - Brasile 6
PL - Polonia 6
AT - Austria 4
BE - Belgio 4
BG - Bulgaria 4
CZ - Repubblica Ceca 4
MX - Messico 4
TR - Turchia 4
LT - Lituania 3
PH - Filippine 3
UA - Ucraina 3
CY - Cipro 2
EU - Europa 2
HK - Hong Kong 2
JP - Giappone 2
NO - Norvegia 2
RO - Romania 2
CL - Cile 1
IR - Iran 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MY - Malesia 1
NG - Nigeria 1
SA - Arabia Saudita 1
SO - Somalia 1
Totale 3.065
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Città #
Singapore 291
Chandler 213
Santa Clara 150
Naples 138
Millbury 82
Napoli 81
Amsterdam 74
Ashburn 73
Boston 54
Princeton 45
Des Moines 44
Lawrence 44
Nanjing 44
Beijing 31
Redwood City 31
Wilmington 28
Dublin 20
Fairfield 16
Ottawa 16
Hebei 13
Nanchang 13
Dong Ket 12
Houston 11
Milan 11
Rome 11
Los Angeles 10
Moscow 10
San Giorgio A Cremano 10
Shanghai 10
Shenyang 10
Islamabad 9
Jacksonville 9
Tianjin 9
Jerusalem 8
Kronberg 8
Boydton 6
Changsha 6
Kunming 6
Munich 6
San Cesareo 6
Selargius 6
Washington 6
Barcelona 5
Dallas 5
Frankfurt am Main 5
Hangzhou 5
Helsinki 5
Indiana 5
Jiaxing 5
New York 5
San Mateo 5
Boardman 4
Falls Church 4
Fuzhou 4
Norwalk 4
Portici 4
Sofia 4
Warsaw 4
Zola Predosa 4
Ann Arbor 3
Arzano 3
Basel 3
Brighton 3
Caserta 3
Castellammare di Stabia 3
Geneva 3
Haifa 3
Heidelberg 3
Jinan 3
Kaunas 3
Melbourne 3
Padova 3
Pompei 3
Pune 3
Salerno 3
Seattle 3
Trento 3
Americana 2
Bartlesville 2
Bergamo 2
Bloomington 2
Bologna 2
Buffalo 2
Casalnuovo di Napoli 2
Cava Dei Tirreni 2
Chennevières-sur-Marne 2
Chicago 2
Cincinnati 2
Foggia 2
Guangzhou 2
Hong Kong 2
Irvine 2
Lappeenranta 2
Madrid 2
Manchester 2
Merano 2
Monmouth Junction 2
Montescaglioso 2
Montréal 2
Muenster 2
Totale 1.858
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Nome #
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II 235
A first update on mapping the human genetic architecture of COVID-19 81
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 63
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 57
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 54
Dysregulation of lipid metabolism and pathological inflammation in patients with COVID-19. 49
Hereditary stomatocytosis: An underdiagnosed condition 47
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 46
Recommendations regarding splenectomy in hereditary hemolytic anemias 46
Diagnosis and management of congenital dyserythropoietic anemias 45
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 45
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 43
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients 43
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 41
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 41
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 40
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 40
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 40
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 39
The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism 39
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 37
Advances in understanding the pathogenesis of red cell membrane disorders 36
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 35
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. 34
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility 34
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia 34
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 34
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells. 33
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. 33
New insights on hereditary erythrocyte membrane defects 33
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 33
Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report 33
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 33
MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. 32
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 32
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene. 31
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 31
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 31
Differential diagnosis of hereditary anemias from a fraction of blood drop by digital holography and hierarchical machine learning 31
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis 30
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 30
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 29
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 29
Congenital dyserythropoietic anemias 29
A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain. 28
Congenital dyserythropoietic anemias. 28
Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cellline. 28
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores 28
Protease inhibitors-based therapy induces acquired spherocytic-like anaemia and ineffective erythropoiesis in chronic hepatitis C virus patients 28
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 28
Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia 27
Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations 27
A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in southern italian population 26
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d inerythroid cells. 26
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 26
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) 26
SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells. 25
Integration of Pharmacogenetics and Pharmacogenomics in Drug Development: Implications for Regulatory and Medical Decision Making in Pediatric Diseases. 25
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II 25
Next generation research and therapy in red blood cell diseases 25
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients 25
Congenital dyserythropoietic anaemias: new acquisitions. 24
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene 24
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias 24
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 24
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model 24
Inherited hematological disorders due to defects in coat protein (COP)II complex. 23
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: A case report and a brief review of literature 23
Rap-011 rescues the disease phenotype in a cellular model of congenital dyserythropoietic anemia type ii by inhibiting the smad2-3 pathway 23
Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus-related chronic hepatitis:Insulin resistance and response to antiviral therapy 22
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II 22
Inherited microcytic anemias 22
Recommendations for Pregnancy in Rare Inherited Anemias 22
Recommendations for diagnosis and treatment of methemoglobinemia 22
Genetic mechanisms of critical illness in COVID-19 22
Whole-genome sequencing reveals host factors underlying critical COVID-19 21
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations 21
Elevated expression and polymorphisms of SOCS3 influence patient response to antiviral therapy in chronic hepatitis C. 21
Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives. 21
Targeted Next Generation Sequencing Identifies a Novel ß-spectrin gene mutation A2059P in two Omani children with Hereditary Pyropoikilocytosis 21
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants 20
Red cells in post-genomic era: Impact of personalized medicine in the treatment of anemias 20
Recommendations for pregnancy in Fanconi anemia 20
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene 19
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. 19
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II 19
Pharmacogenomics and pharmacogenetics: individual genetic profile and pharmacological response. 19
Kinome expression profiling of human neuroblastoma tumors identifies potential drug targets for ultra highrisk patients 19
The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation 19
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes 18
Galectin-1 and its involvement in hepatocellular carcinoma aggressiveness. 18
The european hematology association roadmap for european hematology research: A consensus document. 18
Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature 18
Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia 18
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia 15
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Imparing Glycosylation Pathway in Human Hepatic Cells 15
Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias 14
Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge 14
Mapping the human genetic architecture of COVID-19 14
Mitapivat, a pyruvate kinase activator, improves transfusion burden and reduces iron overload in β-thalassemic mice 13
Totale 3.137
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Categoria #
all - tutte 17.932
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 17.932
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202087 0 0 0 0 0 11 3 2 0 23 32 16
2020/2021293 3 0 37 11 2 15 28 25 65 26 34 47
2021/2022632 25 15 34 35 12 18 33 46 60 27 120 207
2022/2023603 91 64 32 13 55 54 9 46 109 74 42 14
2023/2024600 29 90 116 39 24 26 27 91 6 16 106 30
2024/2025712 145 185 28 77 134 143 0 0 0 0 0 0
Totale 3.296