IRIS
DIANZANI, Irma
 Distribuzione geografica
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Continente #
EU - Europa 4.530
NA - Nord America 4.258
AS - Asia 2.777
SA - Sud America 484
AF - Africa 70
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 6
Totale 12.137
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Nazione #
US - Stati Uniti d'America 4.161
IE - Irlanda 1.213
CN - Cina 922
SG - Singapore 816
DE - Germania 735
SE - Svezia 699
UA - Ucraina 489
IT - Italia 471
HK - Hong Kong 428
BR - Brasile 379
FI - Finlandia 294
RU - Federazione Russa 289
VN - Vietnam 274
IN - India 109
GB - Regno Unito 100
KR - Corea 67
CA - Canada 63
FR - Francia 54
AR - Argentina 46
PL - Polonia 39
ID - Indonesia 34
BJ - Benin 32
NL - Olanda 30
BE - Belgio 26
CZ - Repubblica Ceca 26
MX - Messico 24
ZA - Sudafrica 23
AT - Austria 19
IR - Iran 19
JP - Giappone 18
BD - Bangladesh 17
EC - Ecuador 17
TR - Turchia 17
ES - Italia 12
CO - Colombia 11
LT - Lituania 11
EU - Europa 10
IQ - Iraq 8
AE - Emirati Arabi Uniti 7
PY - Paraguay 7
PE - Perù 6
AU - Australia 5
CL - Cile 5
KE - Kenya 5
SA - Arabia Saudita 5
TW - Taiwan 5
UY - Uruguay 5
UZ - Uzbekistan 5
BO - Bolivia 4
NO - Norvegia 4
RO - Romania 4
AZ - Azerbaigian 3
DO - Repubblica Dominicana 3
IL - Israele 3
LB - Libano 3
MA - Marocco 3
MK - Macedonia 3
VE - Venezuela 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AL - Albania 2
BB - Barbados 2
CY - Cipro 2
EG - Egitto 2
JO - Giordania 2
KG - Kirghizistan 2
KZ - Kazakistan 2
PA - Panama 2
PH - Filippine 2
PT - Portogallo 2
TN - Tunisia 2
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BY - Bielorussia 1
CH - Svizzera 1
CI - Costa d'Avorio 1
DZ - Algeria 1
EE - Estonia 1
GE - Georgia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
LK - Sri Lanka 1
LV - Lettonia 1
MR - Mauritania 1
NP - Nepal 1
PK - Pakistan 1
PS - Palestinian Territory 1
PW - Palau 1
SK - Slovacchia (Repubblica Slovacca) 1
SR - Suriname 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
Totale 12.137
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Città #
Dublin 1.213
Jacksonville 848
Shenzhen 431
Hong Kong 427
Dearborn 400
Singapore 279
Chandler 250
Beijing 246
Ashburn 245
Wilmington 227
Lawrence 150
Princeton 150
Piemonte 144
Los Angeles 124
San Mateo 114
Moscow 113
Ann Arbor 98
Buffalo 88
Ho Chi Minh City 84
Andover 75
Seoul 66
Boardman 63
Bremen 62
Hanoi 57
Munich 57
Novara 49
Houston 45
New York 44
Turin 36
Philadelphia 35
Dong Ket 34
Cotonou 32
Warsaw 32
Woodbridge 31
Seattle 29
Norwalk 28
São Paulo 28
Helsinki 27
Nanjing 25
Vercelli 25
Toronto 23
Brno 22
Hefei 22
Milan 22
Santa Clara 21
Frankfurt am Main 19
Dallas 18
Denver 18
Tokyo 18
Jakarta 17
Kunming 17
Poplar 17
Jinan 15
Orem 15
Phoenix 15
Redondo Beach 15
Biên Hòa 14
Brussels 14
Curitiba 14
Düsseldorf 14
Johannesburg 14
Montreal 14
Rome 14
Chennai 13
Amsterdam 12
Falkenstein 12
Guarulhos 12
Stockholm 12
Waanrode 12
Brooklyn 11
Nuremberg 11
Da Nang 10
Haiphong 10
Leawood 10
Mexico City 10
Rio de Janeiro 10
Tianjin 10
Turku 10
Atlanta 9
Guayaquil 9
London 9
Monmouth Junction 9
Sacramento 9
Boston 8
Belo Horizonte 7
Berlin 7
Bologna 7
Grafing 7
Madrid 7
Querétaro 7
San Francisco 7
Vienna 7
Zanjan 7
Ankara 6
Assago 6
Brasília 6
Calgary 6
Chicago 6
City of London 6
Fairfield 6
Totale 7.226
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Nome #
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study. 527
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia 137
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy 137
ABNORMALITIES OF SODIUM-TRANSPORT BY SODIUM, POTASSIUM-ACTIVATED ADENOSINE-TRIPHOSPHATASE IN ERYTHROCYTES FROM OBESE CHILDREN 127
Dissecting the transcriptional phenotype of ribosomal protein deficiency: Implications for Diamond-Blackfan Anemia 126
Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis 124
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma 121
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation 115
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment 115
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia 110
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis 110
Prognostic and predictive role of gut microbiota in advanced mesothelioma patients: a feasibility exploratory pilot study. 104
Melanoma cutaneo e tumori non cutanei nei portatori di mutazione germinale del gene CDKN2A 104
Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma. 104
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. 102
Differential proteomic analysis in human cells subjected to ribosomal stress. 101
The first reported case of cutaneous and uterine leiomyomatosis in a carrier of CDKN2A germline mutation 100
A new method for investigating microbiota-produced small molecules in adenomatous polyps 100
A Series of Mutations in the Dihydropteridine Reductase Gene resulting in either RNA splicing or DHPR protein defects 99
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes 99
Analysis of the interactome of ribosomal protein S19 mutants 98
ANALYSIS OF SEQUENCE CONTEXTS FLANKING T-CENTER-DOT-G MISMATCHES LEADS TO PREDICTIONS ABOUT REACTIVITY OF THE MISMATCHED T TO OSMIUM-TETROXIDE 96
A FREQUENT ECORI POLYMORPHISM IN THE BCL-2 GENE 95
Analysis of NAT2 genotypes as risk factors for asbestos related malignant mesothelioma (MM) in a general population study 95
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry 95
Gene-asbestos interaction in malignant pleural mesothelioma susceptibility 95
Genetic predisposition for malignant mesothelioma: A concise review 95
2 NEW MUTATIONS IN THE DIHYDROPTERIDINE REDUCTASE GENE IN PATIENTS WITH TETRAHYDROBIOPTERIN DEFICIENCY 94
Analysis of the ribosomal protein S19 interactome 93
Distinct Signatures of Tumor-Associated Microbiota and Metabolome in Low-Grade vs. High-Grade Dysplastic Colon Polyps: Inference of Their Role in Tumor Initiation and Progression 92
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 92
The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update 92
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 92
Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy 91
Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers 91
Analysis of Telomeres in Peripheral Blood Cells From Patients With Bone Marrow Failure 89
A New Database For Ribosomal Protein Genes Which Are Mutated In Diamond-Blackfan Anemia 89
Genetic testing of hyperphenylalaninemias 88
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype 88
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein 88
A NEWLY-CHARACTERIZED ALPHA-THALASSEMIA-1 DELETION REMOVES THE ENTIRE ALPHA-LIKE GLOBIN GENE-CLUSTER IN AN ITALIAN FAMILY 87
Dna methylation of fkbp5 as predictor of overall survival in malignant pleural mesothelioma 87
Genetic predisposition to myelodysplastic syndromes: A challenge for adult hematologists 87
A spontaneous mutation causing unstable Hb Hammersmith: detection of the beta 42 TTT----TCT change by CCM and direct sequencing 86
Compound Heterozygosity for Two New TERT Mutations in a Patient With Aplastic Anemia 86
The european hematology association roadmap for european hematology research: A consensus document 86
MOLECULAR SCREENING OF GENETIC-DEFECTS WITH RNA-SSCP ANALYSIS - THE PKU AND CYSTINURIA MODEL 85
A genome-wide association study for malignant mesothelioma risk. 85
Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area. 85
Diamond-Blackfan anemia: A congenital defect in erythropoiesis 84
A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype 82
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience 80
HAPLOTYPE DISTRIBUTION AND MOLECULAR DEFECTS AT THE PHENYLALANINE-HYDROXYLASE LOCUS IN ITALY 80
Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases 80
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 80
SCREENING FOR MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE FROM ITALIAN PATIENTS WITH PHENYLKETONURIA BY USING THE CHEMICAL CLEAVAGE METHOD - A NEW SPLICE MUTATION 79
Simultaneous screening for beta-thalassemia mutations by chemical cleavage of mismatch 79
Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation 78
Evidence for a possible role of lipid peroxidation in experimental liver fibrosis 78
Rapp-Hodgkin and AEC Syndromes due to a new frameshift mutation in the TP63 gene 78
Gut microbiota and metabolome signatures in obese and normal-weight patients with colorectal tumors 77
RFLPS OF THE PHENYLALANINE-HYDROXYLASE GENE IN THE ITALIAN POPULATION 77
CHARACTERIZATION OF PHENYLKETONURIA ALLELES IN THE ITALIAN POPULATION 76
Analysis of potential genetic risk factors for the development of malignant mesothelioma caused by asbestos exposure 76
Distinct RNA profiles in subpopulations of extracellular vesicles: apoptotic bodies, microvesicles and exosomes 76
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature 76
Diamond-Blackfan Anemia: an Overview 75
ERYTHROCYTES NA-LI COUNTERTRANSPORT IN DIABETIC ADOLESCENTS 75
ERYTHROCYTE NA,LI COUNTERTRANSPORT AND ARTERIAL-PRESSURE IN DIABETIC ADOLESCENTS 74
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 74
Diminished expression of phosphatidylethanolamine N-methyltransferase 2 during hepatocarcinogenesis 74
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer 74
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. 73
PROGRESSION OF 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY FROM A PERIPHERAL INTO A CENTRAL PHENOTYPE 73
High frequency of ribosomal protein gene deletions in Italian Diamond Blackfan anemia patients detected by Multiplex Ligation-dependent Probe Amplification (MLPA) assay. 72
DNA methylation profiling of asbestos-treated MeT5A cell line reveals novel pathways implicated in asbestos response 71
ANALYSIS OF THE CARBONYL-COMPOUNDS PRODUCED IN BETA-THALASSEMIC ERYTHROCYTES BY OXIDATIVE STRESS 70
Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy 69
An overview of the genetic structure within the Italian population from genome-wide data. 69
III Italian Consensus Conference on Malignant Mesothelioma of the Pleura. Epidemiology, Public Health and Occupational Medicine related issues 69
Human peripheral blood granulocytes and myeloid leukemic cell lines express both transcripts encoding for stem cell factor 68
Mutations and phenotypes in dihydropteridine reductase deficiency in Italy 68
Diamond-Blackfan anaemia in the Italian population 68
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function 68
Diamond-Blackfan anemia: Report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population 67
Peripheral blood DNA methylation as potential biomarker of Malignant Pleural Mesothelioma in asbestos-exposed subjects 67
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide 67
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference 66
La malattia genetica come eccezione alla regola. 66
Mutation of FAS, XIAP, and UNC13D genes in a patient with a complex lymphoproliferative phenotype. 66
Medical and surgical care of mesothelioma patients and their relatives carrying germline BAP1 mutations 66
HAPLOTYPE DISTRIBUTION AND MOLECULAR DEFECTS OF PKU IN ITALY 65
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia 65
Phenotyping of phenylketonuric patients by oral phenylalanine loading 64
HETEROZYGOTES AND HOMOZYGOTES - DISCRIMINATION BY CHEMICAL CLEAVAGE OF MISMATCH 64
NOLA1 Gene Mutations in Acquired Aplastic Anemia 64
Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation 64
TETRAHYDROBIOPTERIN LOADING TEST IN HYPERPHENYLALANINEMIA 63
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity 63
Inherited Perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma 63
Totale 8.944
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Categoria #
all - tutte 66.863
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 66.863
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021611 0 0 0 0 0 19 148 20 145 17 182 80
2021/20221.074 61 9 227 115 40 8 86 20 82 35 162 229
2022/20232.347 166 113 138 73 175 191 38 120 1.186 13 73 61
2023/20241.173 65 45 487 26 135 24 177 54 8 5 47 100
2024/20251.707 37 21 56 48 62 70 170 174 460 178 52 379
2025/20262.410 247 223 434 882 521 103 0 0 0 0 0 0
Totale 12.278