IRIS
RUSSO, ROBERTA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 4.048
EU - Europa 3.313
NA - Nord America 2.714
SA - Sud America 648
AF - Africa 148
OC - Oceania 22
Continente sconosciuto - Info sul continente non disponibili 3
Totale 10.896
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 2.568
SG - Singapore 2.117
RU - Federazione Russa 1.671
CN - Cina 954
IT - Italia 692
BR - Brasile 520
HK - Hong Kong 360
VN - Vietnam 257
DE - Germania 217
NL - Olanda 138
GB - Regno Unito 130
FI - Finlandia 103
IN - India 88
IE - Irlanda 80
CA - Canada 76
FR - Francia 72
AR - Argentina 64
CI - Costa d'Avorio 61
KR - Corea 50
MX - Messico 42
PL - Polonia 40
AT - Austria 30
ZA - Sudafrica 28
SE - Svezia 24
ES - Italia 23
JP - Giappone 23
BD - Bangladesh 22
ID - Indonesia 21
IL - Israele 20
AU - Australia 19
TR - Turchia 19
PK - Pakistan 17
LT - Lituania 16
MA - Marocco 15
PH - Filippine 15
EC - Ecuador 14
UA - Ucraina 13
BE - Belgio 12
VE - Venezuela 12
AE - Emirati Arabi Uniti 11
CL - Cile 11
CO - Colombia 11
CH - Svizzera 10
CZ - Repubblica Ceca 10
MY - Malesia 8
UZ - Uzbekistan 8
BG - Bulgaria 6
EG - Egitto 6
KZ - Kazakistan 6
OM - Oman 6
SA - Arabia Saudita 6
TN - Tunisia 6
DZ - Algeria 5
IQ - Iraq 5
UY - Uruguay 5
AZ - Azerbaigian 4
HR - Croazia 4
IR - Iran 4
JM - Giamaica 4
PE - Perù 4
SO - Somalia 4
TW - Taiwan 4
CY - Cipro 3
KE - Kenya 3
KG - Kirghizistan 3
LB - Libano 3
NI - Nicaragua 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
PA - Panama 3
PY - Paraguay 3
RO - Romania 3
TT - Trinidad e Tobago 3
AL - Albania 2
AM - Armenia 2
BB - Barbados 2
BZ - Belize 2
CD - Congo 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
EU - Europa 2
GY - Guiana 2
HN - Honduras 2
JO - Giordania 2
LU - Lussemburgo 2
MK - Macedonia 2
NG - Nigeria 2
NP - Nepal 2
PR - Porto Rico 2
RS - Serbia 2
SC - Seychelles 2
AD - Andorra 1
AO - Angola 1
BF - Burkina Faso 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BS - Bahamas 1
BW - Botswana 1
BY - Bielorussia 1
CG - Congo 1
Totale 10.869
Salva come PNG Salva come JPEG
Città #
Singapore 983
Moscow 409
Hong Kong 360
Ashburn 281
Hefei 266
Beijing 265
Chandler 213
Naples 194
Santa Clara 170
Los Angeles 106
Ho Chi Minh City 94
Munich 86
Amsterdam 82
Millbury 81
Napoli 80
Boston 69
Hanoi 65
San Jose 65
São Paulo 57
Seoul 50
Redondo Beach 47
Nanjing 45
Des Moines 44
Lawrence 44
New York 44
Princeton 44
Buffalo 43
Turku 42
Frankfurt am Main 34
Dallas 32
Redwood City 31
Warsaw 31
Wilmington 28
Rio de Janeiro 26
Brooklyn 25
Chicago 22
Rome 22
Dublin 21
The Dalles 21
Tokyo 21
Atlanta 20
Houston 20
Montreal 20
Nuremberg 20
Tianjin 20
Belo Horizonte 19
London 19
Orem 19
Ottawa 19
Boardman 18
Mexico City 18
Milan 18
Council Bluffs 17
Seattle 17
Chennai 16
Fairfield 16
Johannesburg 16
Vienna 15
Falkenstein 14
Helsinki 14
Poplar 14
Columbus 13
Hebei 13
Toronto 13
Dong Ket 12
Kochi 12
Manchester 12
Nanchang 12
Stockholm 12
Curitiba 11
Phoenix 11
Shanghai 11
Brasília 10
Guangzhou 10
Jerusalem 10
Ninh Bình 10
San Giorgio A Cremano 10
Shenyang 10
Haiphong 9
Islamabad 9
Jacksonville 9
Campinas 8
Casablanca 8
Mumbai 8
Querétaro 8
San Francisco 8
Tashkent 8
Bexley 7
Biên Hòa 7
Brussels 7
Changsha 7
Denver 7
Guayaquil 7
Kronberg 7
Lauterbourg 7
Washington 7
Ankara 6
Boydton 6
Da Nang 6
Fortaleza 6
Totale 5.366
Salva come PNG Salva come JPEG
Nome #
Whole-genome sequencing reveals host factors underlying critical COVID-19 283
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II 274
A first update on mapping the human genetic architecture of COVID-19 254
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 163
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 158
Dysregulation of lipid metabolism and pathological inflammation in patients with COVID-19. 139
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 136
Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication 130
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age 130
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 127
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 125
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 122
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 120
Mapping the human genetic architecture of COVID-19 119
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males 119
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 116
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene 115
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 114
Diagnosis and management of congenital dyserythropoietic anemias 114
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 114
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 114
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients 113
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 112
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 111
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility 110
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 109
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 108
Recommendations regarding splenectomy in hereditary hemolytic anemias 107
An explainable model of host genetic interactions linked to COVID-19 severity 106
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 106
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. 105
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 105
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 104
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women 104
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants 103
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 102
Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation 100
Differential diagnosis of hereditary anemias from a fraction of blood drop by digital holography and hierarchical machine learning 100
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d inerythroid cells. 99
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 98
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients 97
Hereditary stomatocytosis: An underdiagnosed condition 96
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene 96
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 96
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) 95
Integration of Pharmacogenetics and Pharmacogenomics in Drug Development: Implications for Regulatory and Medical Decision Making in Pediatric Diseases. 94
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores 94
Mitapivat, a pyruvate kinase activator, improves transfusion burden and reduces iron overload in β-thalassemic mice 93
Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cellline. 93
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 93
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias 92
A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity 91
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations 91
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II 91
Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia 91
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 91
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 91
New insights on hereditary erythrocyte membrane defects 90
Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge 89
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. 89
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model 89
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 88
Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias 87
Congenital dyserythropoietic anaemias: new acquisitions. 87
Congenital dyserythropoietic anemias. 87
Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report 87
Rap-011 rescues the disease phenotype in a cellular model of congenital dyserythropoietic anemia type ii by inhibiting the smad2-3 pathway 86
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes 85
Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus-related chronic hepatitis:Insulin resistance and response to antiviral therapy 85
RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis 83
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients 81
The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism 81
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Imparing Glycosylation Pathway in Human Hepatic Cells 81
Inherited hematological disorders due to defects in coat protein (COP)II complex. 80
Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations 80
SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells. 78
Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives. 78
Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia 78
Relevance of the E756del common variant in the PIEZO1 gene for haemolytic anaemia and hepatic iron overload 76
Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia 76
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: A case report and a brief review of literature 75
Recommendations for Pregnancy in Rare Inherited Anemias 75
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review 74
Inherited microcytic anemias 74
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II 73
The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation 73
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia 71
Next generation research and therapy in red blood cell diseases 68
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene. 68
Targeted Next Generation Sequencing Identifies a Novel ß-spectrin gene mutation A2059P in two Omani children with Hereditary Pyropoikilocytosis 66
Congenital dyserythropoietic anemias 64
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis 62
Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis 62
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia 61
A novel pathogenic variant causing POU3F3-related neurodevelopmental disorder in a child presenting with infantile epileptic spasms syndrome: Expanding the epileptic phenotype 61
Recommendations for diagnosis and treatment of methemoglobinemia 59
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper 58
Genetic mechanisms of critical illness in COVID-19 58
MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. 57
A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain. 57
Totale 9.910
Salva come PNG Salva come JPEG
Categoria #
all - tutte 37.096
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 37.096
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021223 0 0 0 0 0 0 28 25 64 26 33 47
2021/2022628 25 15 34 35 12 18 33 46 60 26 120 204
2022/2023600 90 64 32 13 55 54 9 46 109 72 42 14
2023/2024592 29 89 113 39 24 26 27 89 6 15 106 29
2024/20253.933 144 185 28 76 133 176 389 267 307 392 1.431 405
2025/20264.644 914 603 808 735 1.192 296 96 0 0 0 0 0
Totale 11.135