IRIS
DIANZANI, Irma
 Distribuzione geografica
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Continente #
EU - Europa 7.901
NA - Nord America 6.131
AS - Asia 3.732
SA - Sud America 556
Continente sconosciuto - Info sul continente non disponibili 162
AF - Africa 94
OC - Oceania 6
Totale 18.582
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Nazione #
US - Stati Uniti d'America 5.978
NL - Olanda 1.903
RU - Federazione Russa 1.430
CN - Cina 1.246
IE - Irlanda 1.214
SG - Singapore 1.007
DE - Germania 755
SE - Svezia 701
IT - Italia 583
VN - Vietnam 516
UA - Ucraina 494
HK - Hong Kong 470
BR - Brasile 408
FI - Finlandia 294
FR - Francia 205
IN - India 132
GB - Regno Unito 123
CA - Canada 92
KR - Corea 68
BD - Bangladesh 62
AR - Argentina 60
PL - Polonia 49
ID - Indonesia 39
BJ - Benin 32
MX - Messico 31
ZA - Sudafrica 30
BE - Belgio 28
CZ - Repubblica Ceca 28
JP - Giappone 27
TR - Turchia 25
IQ - Iraq 24
AT - Austria 23
EC - Ecuador 22
IR - Iran 21
ES - Italia 18
CO - Colombia 17
LT - Lituania 12
TW - Taiwan 11
VE - Venezuela 11
EU - Europa 10
SA - Arabia Saudita 10
AE - Emirati Arabi Uniti 9
PE - Perù 9
PK - Pakistan 9
PY - Paraguay 9
UZ - Uzbekistan 9
JM - Giamaica 8
CL - Cile 7
KE - Kenya 7
MD - Moldavia 7
UY - Uruguay 7
PH - Filippine 6
RO - Romania 6
AU - Australia 5
AZ - Azerbaigian 5
BO - Bolivia 5
CR - Costa Rica 5
IL - Israele 5
KZ - Kazakistan 5
MA - Marocco 5
TH - Thailandia 5
CH - Svizzera 4
DZ - Algeria 4
JO - Giordania 4
NO - Norvegia 4
NP - Nepal 4
AO - Angola 3
DO - Repubblica Dominicana 3
EG - Egitto 3
LB - Libano 3
MK - Macedonia 3
PA - Panama 3
RS - Serbia 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AL - Albania 2
BB - Barbados 2
BY - Bielorussia 2
CI - Costa d'Avorio 2
CY - Cipro 2
ET - Etiopia 2
HN - Honduras 2
KG - Kirghizistan 2
PS - Palestinian Territory 2
PT - Portogallo 2
TN - Tunisia 2
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BS - Bahamas 1
CW - ???statistics.table.value.countryCode.CW??? 1
DK - Danimarca 1
EE - Estonia 1
GD - Grenada 1
GE - Georgia 1
GT - Guatemala 1
HR - Croazia 1
HU - Ungheria 1
LK - Sri Lanka 1
LV - Lettonia 1
LY - Libia 1
Totale 18.422
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Città #
Amsterdam 1.880
Dublin 1.214
Jacksonville 850
San Jose 836
Hong Kong 462
Shenzhen 436
Dearborn 400
Singapore 381
Ashburn 378
Council Bluffs 326
Beijing 254
Chandler 250
Wilmington 227
Moscow 175
Ho Chi Minh City 153
Lawrence 150
Princeton 150
Los Angeles 146
Piemonte 144
Lauterbourg 137
San Mateo 114
Hanoi 109
Ann Arbor 98
Buffalo 92
Columbus 92
Andover 75
Boardman 66
Seoul 66
New York 65
Bremen 63
Santa Clara 63
Munich 58
Novara 57
Houston 55
Turin 43
Philadelphia 39
Warsaw 39
Orem 37
Dallas 34
Dong Ket 34
Da Nang 33
Cotonou 32
Woodbridge 31
Nanjing 30
Seattle 30
São Paulo 30
Vercelli 29
Norwalk 28
Frankfurt am Main 27
Helsinki 27
Toronto 26
Milan 25
Rome 24
Chennai 23
Hefei 23
Tokyo 23
Brno 22
Denver 22
Guangzhou 21
Haiphong 21
Phoenix 21
Atlanta 19
Poplar 19
Montreal 18
Jakarta 17
Kunming 17
Brooklyn 16
Hangzhou 16
Jinan 16
Brussels 15
Falkenstein 15
Johannesburg 15
Nuremberg 15
Redondo Beach 15
Biên Hòa 14
Curitiba 14
Düsseldorf 14
London 14
Stockholm 14
Tianjin 14
Mexico City 13
Guarulhos 12
Waanrode 12
Chicago 11
Manchester 11
Sacramento 11
St Louis 11
Baghdad 10
Guayaquil 10
Leawood 10
Rio de Janeiro 10
Tornaco 10
Turku 10
Monmouth Junction 9
San Francisco 9
Vienna 9
Berlin 8
Boston 8
Fuzhou 8
Hillsboro 8
Totale 11.293
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Nome #
Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers 1.988
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study. 568
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia 196
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy 191
Dissecting the transcriptional phenotype of ribosomal protein deficiency: Implications for Diamond-Blackfan Anemia 170
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma 166
Prognostic and predictive role of gut microbiota in advanced mesothelioma patients: a feasibility exploratory pilot study. 161
Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis 158
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment 158
ABNORMALITIES OF SODIUM-TRANSPORT BY SODIUM, POTASSIUM-ACTIVATED ADENOSINE-TRIPHOSPHATASE IN ERYTHROCYTES FROM OBESE CHILDREN 154
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation 151
A new method for investigating microbiota-produced small molecules in adenomatous polyps 151
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia 150
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 148
Melanoma cutaneo e tumori non cutanei nei portatori di mutazione germinale del gene CDKN2A 146
The first reported case of cutaneous and uterine leiomyomatosis in a carrier of CDKN2A germline mutation 141
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes 140
Gut microbiota and metabolome signatures in obese and normal-weight patients with colorectal tumors 139
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 136
A FREQUENT ECORI POLYMORPHISM IN THE BCL-2 GENE 134
Genetic predisposition for malignant mesothelioma: A concise review 134
Genetic predisposition to myelodysplastic syndromes: A challenge for adult hematologists 133
A Series of Mutations in the Dihydropteridine Reductase Gene resulting in either RNA splicing or DHPR protein defects 132
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 132
Analysis of the interactome of ribosomal protein S19 mutants 132
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis 132
Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma. 132
Simultaneous screening for beta-thalassemia mutations by chemical cleavage of mismatch 131
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 131
Analysis of the ribosomal protein S19 interactome 130
Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy 130
Differential proteomic analysis in human cells subjected to ribosomal stress. 127
Dna methylation of fkbp5 as predictor of overall survival in malignant pleural mesothelioma 126
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. 125
A New Database For Ribosomal Protein Genes Which Are Mutated In Diamond-Blackfan Anemia 124
Analysis of NAT2 genotypes as risk factors for asbestos related malignant mesothelioma (MM) in a general population study 123
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience 121
Gene-asbestos interaction in malignant pleural mesothelioma susceptibility 121
Analysis of Telomeres in Peripheral Blood Cells From Patients With Bone Marrow Failure 120
A NEWLY-CHARACTERIZED ALPHA-THALASSEMIA-1 DELETION REMOVES THE ENTIRE ALPHA-LIKE GLOBIN GENE-CLUSTER IN AN ITALIAN FAMILY 119
ANALYSIS OF SEQUENCE CONTEXTS FLANKING T-CENTER-DOT-G MISMATCHES LEADS TO PREDICTIONS ABOUT REACTIVITY OF THE MISMATCHED T TO OSMIUM-TETROXIDE 118
The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update 118
Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation 117
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype 117
Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area. 117
A spontaneous mutation causing unstable Hb Hammersmith: detection of the beta 42 TTT----TCT change by CCM and direct sequencing 114
2 NEW MUTATIONS IN THE DIHYDROPTERIDINE REDUCTASE GENE IN PATIENTS WITH TETRAHYDROBIOPTERIN DEFICIENCY 114
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide 114
Compound Heterozygosity for Two New TERT Mutations in a Patient With Aplastic Anemia 113
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein 113
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 111
A genome-wide association study for malignant mesothelioma risk. 111
Fecal biomarker discovery by mass spectrometry-based proteomics: a perspective towards non-invasive colorectal cancer screening methods 110
HAPLOTYPE DISTRIBUTION AND MOLECULAR DEFECTS AT THE PHENYLALANINE-HYDROXYLASE LOCUS IN ITALY 110
The european hematology association roadmap for european hematology research: A consensus document 110
Genetic testing of hyperphenylalaninemias 109
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement 108
A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype 108
Diamond-Blackfan anemia: A congenital defect in erythropoiesis 106
Rapp-Hodgkin and AEC Syndromes due to a new frameshift mutation in the TP63 gene 104
New DNA methylation signals for malignant pleural mesothelioma risk assessment 104
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer 101
The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis 101
MOLECULAR SCREENING OF GENETIC-DEFECTS WITH RNA-SSCP ANALYSIS - THE PKU AND CYSTINURIA MODEL 100
Genetics, diet, microbiota, and metabolome: partners in crime for colon carcinogenesis 99
Phenotyping of phenylketonuric patients by oral phenylalanine loading 99
Distinct RNA profiles in subpopulations of extracellular vesicles: apoptotic bodies, microvesicles and exosomes 99
DNA methylation profiling of asbestos-treated MeT5A cell line reveals novel pathways implicated in asbestos response 99
An overview of the genetic structure within the Italian population from genome-wide data. 99
III Italian Consensus Conference on Malignant Mesothelioma of the Pleura. Epidemiology, Public Health and Occupational Medicine related issues 99
Diamond-Blackfan Anemia: an Overview 98
Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases 98
Evidence for a possible role of lipid peroxidation in experimental liver fibrosis 97
SCREENING FOR MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE FROM ITALIAN PATIENTS WITH PHENYLKETONURIA BY USING THE CHEMICAL CLEAVAGE METHOD - A NEW SPLICE MUTATION 97
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature 97
Medical and surgical care of mesothelioma patients and their relatives carrying germline BAP1 mutations 97
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 96
Serum Extracellular Vesicle-Derived microRNAs as Potential Biomarkers for Pleural Mesothelioma in a European Prospective Study 95
RFLPS OF THE PHENYLALANINE-HYDROXYLASE GENE IN THE ITALIAN POPULATION 95
Diminished expression of phosphatidylethanolamine N-methyltransferase 2 during hepatocarcinogenesis 95
CHARACTERIZATION OF PHENYLKETONURIA ALLELES IN THE ITALIAN POPULATION 94
Analysis of potential genetic risk factors for the development of malignant mesothelioma caused by asbestos exposure 94
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. 94
Mutation of FAS, XIAP, and UNC13D genes in a patient with a complex lymphoproliferative phenotype. 94
Peripheral blood DNA methylation as potential biomarker of Malignant Pleural Mesothelioma in asbestos-exposed subjects 94
ERYTHROCYTES NA-LI COUNTERTRANSPORT IN DIABETIC ADOLESCENTS 93
La malattia genetica come eccezione alla regola. 93
ANALYSIS OF THE CARBONYL-COMPOUNDS PRODUCED IN BETA-THALASSEMIC ERYTHROCYTES BY OXIDATIVE STRESS 91
Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy 91
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference 91
PROGRESSION OF 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY FROM A PERIPHERAL INTO A CENTRAL PHENOTYPE 91
ERYTHROCYTE NA,LI COUNTERTRANSPORT AND ARTERIAL-PRESSURE IN DIABETIC ADOLESCENTS 90
High frequency of ribosomal protein gene deletions in Italian Diamond Blackfan anemia patients detected by Multiplex Ligation-dependent Probe Amplification (MLPA) assay. 89
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia 88
Diamond-Blackfan anaemia in the Italian population 87
Human peripheral blood granulocytes and myeloid leukemic cell lines express both transcripts encoding for stem cell factor 86
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function 86
Diamond-Blackfan anemia: Report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population 85
III Italian consensus conference on malignant mesothelioma of the pleura. Epidemiology, public health and occupational medicine related issues 85
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever 85
Totale 13.909
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Categoria #
all - tutte 83.025
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 83.025
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.013 0 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
2025/20268.167 247 223 434 882 521 430 977 980 2.329 532 453 159
2026/2027547 220 327 0 0 0 0 0 0 0 0 0 0
Totale 18.582