IRIS
RUSSO, ROBERTA
 Distribuzione geografica
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Continente #
NA - Nord America 1.181
EU - Europa 743
AS - Asia 230
AF - Africa 61
SA - Sud America 4
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 1
Totale 2.222
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Nazione #
US - Stati Uniti d'America 1.161
IT - Italia 433
CN - Cina 166
NL - Olanda 78
CI - Costa d'Avorio 60
IE - Irlanda 58
DE - Germania 42
FI - Finlandia 40
GB - Regno Unito 22
IN - India 17
CA - Canada 16
SE - Svezia 13
VN - Vietnam 12
ES - Italia 11
FR - Francia 11
IL - Israele 11
PK - Pakistan 9
CH - Svizzera 6
BG - Bulgaria 4
BR - Brasile 4
CZ - Repubblica Ceca 4
MX - Messico 4
PL - Polonia 4
BE - Belgio 3
LT - Lituania 3
SG - Singapore 3
UA - Ucraina 3
AT - Austria 2
CY - Cipro 2
EU - Europa 2
JP - Giappone 2
NO - Norvegia 2
PH - Filippine 2
RO - Romania 2
TR - Turchia 2
AU - Australia 1
IR - Iran 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MY - Malesia 1
NG - Nigeria 1
RU - Federazione Russa 1
SA - Arabia Saudita 1
Totale 2.222
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Città #
Chandler 211
Naples 121
Millbury 80
Napoli 79
Amsterdam 72
Ashburn 70
Boston 54
Princeton 45
Des Moines 44
Nanjing 44
Lawrence 43
Beijing 31
Redwood City 31
Wilmington 26
Fairfield 16
Ottawa 14
Hebei 13
Nanchang 13
Dong Ket 12
Houston 10
Los Angeles 10
San Giorgio A Cremano 10
Shenyang 10
Islamabad 9
Jacksonville 9
Shanghai 9
Tianjin 9
Jerusalem 8
Kronberg 8
Rome 7
Milan 6
San Cesareo 6
Selargius 6
Washington 6
Barcelona 5
Changsha 5
Frankfurt am Main 5
Indiana 5
Jiaxing 5
Kunming 5
San Mateo 5
Falls Church 4
Fuzhou 4
Hangzhou 4
Norwalk 4
Sofia 4
Warsaw 4
Zola Predosa 4
Ann Arbor 3
Arzano 3
Basel 3
Brighton 3
Castellammare di Stabia 3
Geneva 3
Haifa 3
Heidelberg 3
Jinan 3
Kaunas 3
New York 3
Padova 3
Seattle 3
Bartlesville 2
Bologna 2
Buffalo 2
Casalnuovo di Napoli 2
Cava Dei Tirreni 2
Chicago 2
Cincinnati 2
Dublin 2
Irvine 2
Madrid 2
Merano 2
Monmouth Junction 2
Montescaglioso 2
Montréal 2
Muenster 2
Newcastle Upon Tyne 2
Nocera Inferiore 2
Oberhaching 2
Oslo 2
Pozzuoli 2
Pune 2
Salerno 2
Sorrento 2
Stockholm 2
São Paulo 2
Trento 2
Trieste 2
Tronzano Vercellese 2
Urbisaglia 2
Verona 2
Waanrode 2
Zaragoza 2
Altamura 1
Alvignano 1
Ankara 1
Augusta 1
Bacoli 1
Bindlach 1
Boardman 1
Totale 1.315
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Nome #
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II 229
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 53
A first update on mapping the human genetic architecture of COVID-19 52
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 52
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 46
Dysregulation of lipid metabolism and pathological inflammation in patients with COVID-19. 43
Diagnosis and management of congenital dyserythropoietic anemias 41
Recommendations regarding splenectomy in hereditary hemolytic anemias 41
Hereditary stomatocytosis: An underdiagnosed condition 41
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 40
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 38
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 35
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 35
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 33
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients 33
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 32
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 32
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 32
Advances in understanding the pathogenesis of red cell membrane disorders 31
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia 30
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 30
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 29
The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism 29
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. 28
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility 28
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 28
MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. 27
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 27
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 27
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. 26
New insights on hereditary erythrocyte membrane defects 26
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene. 26
Differential diagnosis of hereditary anemias from a fraction of blood drop by digital holography and hierarchical machine learning 26
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells. 25
Congenital dyserythropoietic anemias 25
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 25
Congenital dyserythropoietic anemias. 24
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 24
Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report 24
Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cellline. 23
Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia 23
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis 23
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 23
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 22
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores 22
Next generation research and therapy in red blood cell diseases 22
Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations 22
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 22
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 22
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 22
A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain. 21
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d inerythroid cells. 21
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 21
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 21
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) 21
SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells. 20
Congenital dyserythropoietic anaemias: new acquisitions. 20
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II 20
Protease inhibitors-based therapy induces acquired spherocytic-like anaemia and ineffective erythropoiesis in chronic hepatitis C virus patients 20
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients 20
Integration of Pharmacogenetics and Pharmacogenomics in Drug Development: Implications for Regulatory and Medical Decision Making in Pediatric Diseases. 19
Inherited hematological disorders due to defects in coat protein (COP)II complex. 18
Elevated expression and polymorphisms of SOCS3 influence patient response to antiviral therapy in chronic hepatitis C. 17
Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives. 17
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II 17
Recommendations for diagnosis and treatment of methemoglobinemia 17
Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus-related chronic hepatitis:Insulin resistance and response to antiviral therapy 16
The european hematology association roadmap for european hematology research: A consensus document. 16
Targeted Next Generation Sequencing Identifies a Novel ß-spectrin gene mutation A2059P in two Omani children with Hereditary Pyropoikilocytosis 16
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: A case report and a brief review of literature 16
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model 16
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. 15
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II 15
Kinome expression profiling of human neuroblastoma tumors identifies potential drug targets for ultra highrisk patients 15
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene 15
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias 15
Inherited microcytic anemias 15
Recommendations for Pregnancy in Rare Inherited Anemias 15
Recommendations for pregnancy in Fanconi anemia 15
Red cells in post-genomic era: Impact of personalized medicine in the treatment of anemias 14
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations 13
Pharmacogenomics and pharmacogenetics: individual genetic profile and pharmacological response. 13
Rap-011 rescues the disease phenotype in a cellular model of congenital dyserythropoietic anemia type ii by inhibiting the smad2-3 pathway 13
Galectin-1 and its involvement in hepatocellular carcinoma aggressiveness. 12
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Imparing Glycosylation Pathway in Human Hepatic Cells 12
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes 11
Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature 11
Genetic mechanisms of critical illness in COVID-19 10
The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation 10
Mitapivat, a pyruvate kinase activator, improves transfusion burden and reduces iron overload in β-thalassemic mice 9
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene 8
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants 8
Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge 8
The EHA research roadmap: Anemias 8
Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia 8
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 6
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia 6
Editorial: Genetics and Genomics of Red Blood Cells 5
Resources and tools for rare disease variant interpretation 4
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper 3
Totale 2.421
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Categoria #
all - tutte 10.941
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 10.941
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201922 0 0 0 0 0 0 0 0 0 0 3 19
2019/2020182 74 0 0 4 17 11 3 2 0 23 32 16
2020/2021290 3 0 37 11 2 15 28 25 65 26 31 47
2021/2022625 24 15 33 35 12 18 33 44 59 27 120 205
2022/2023595 90 64 31 13 55 53 8 46 108 72 41 14
2023/2024466 29 90 114 39 23 26 25 90 6 16 8 0
Totale 2.432