IRIS
DIANZANI, Irma
 Distribuzione geografica
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Continente #
EU - Europa 3.748
NA - Nord America 3.219
AS - Asia 1.129
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 2
SA - Sud America 1
Totale 8.111
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Nazione #
US - Stati Uniti d'America 3.201
IE - Irlanda 1.221
SE - Svezia 691
CN - Cina 683
DE - Germania 615
UA - Ucraina 469
IT - Italia 350
FI - Finlandia 271
HK - Hong Kong 201
SG - Singapore 98
IN - India 80
GB - Regno Unito 42
VN - Vietnam 34
BE - Belgio 24
CZ - Repubblica Ceca 23
FR - Francia 19
IR - Iran 19
CA - Canada 18
NL - Olanda 12
EU - Europa 10
TR - Turchia 7
RU - Federazione Russa 4
TW - Taiwan 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AU - Australia 2
ES - Italia 2
KG - Kirghizistan 2
PL - Polonia 2
AL - Albania 1
BR - Brasile 1
HR - Croazia 1
ID - Indonesia 1
IL - Israele 1
RO - Romania 1
Totale 8.111
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Città #
Dublin 1.221
Jacksonville 853
Shenzhen 431
Dearborn 400
Chandler 250
Wilmington 228
Hong Kong 200
Lawrence 151
Princeton 151
Piemonte 146
San Mateo 115
Beijing 112
Ann Arbor 99
Ashburn 91
Andover 76
Boardman 63
Bremen 63
Singapore 53
Houston 35
Dong Ket 34
Philadelphia 34
Woodbridge 31
Norwalk 28
Seattle 25
Turin 25
Nanjing 24
Hefei 22
Brno 21
Düsseldorf 17
Helsinki 16
Kunming 16
Novara 16
Jinan 15
Brussels 12
Waanrode 12
Toronto 11
Vercelli 11
Leawood 10
Rome 10
Milan 9
Monmouth Junction 9
Sacramento 9
Grafing 7
Zanjan 7
Berlin 6
Fairfield 6
Guangzhou 6
Kocaeli 6
Monza 6
Munich 6
Nizza Monferrato 6
Torino 6
Chongqing 5
Fuzhou 5
Ardabil 4
Phoenix 4
West Jordan 4
Winnipeg 4
Bologna 3
Cambridge 3
Chengdu 3
Hangzhou 3
Invorio 3
Montano Lucino 3
Nanchang 3
Ningbo 3
Redwood City 3
Rosignano Marittimo 3
Santa Maria Nuova 3
Simi Valley 3
Wuhan 3
Bishkek 2
Calgary 2
Campiglia Marittima 2
Cassano Magnago 2
Castelnuovo Bormida 2
Des Moines 2
Florence 2
Gunzenhausen 2
Hebei 2
Leinì 2
Madrid 2
Mcallen 2
Mumbai 2
Mülheim 2
Nottingham 2
Paris 2
Priocca 2
Pune 2
Romainville 2
Shaoxing 2
Shenyang 2
Trieste 2
Warsaw 2
Americana 1
Ashfield 1
Augusta 1
Baotou 1
Bergamo 1
Biassono 1
Totale 5.334
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Nome #
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study. 503
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy 94
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia 93
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma 91
ABNORMALITIES OF SODIUM-TRANSPORT BY SODIUM, POTASSIUM-ACTIVATED ADENOSINE-TRIPHOSPHATASE IN ERYTHROCYTES FROM OBESE CHILDREN 86
Dissecting the transcriptional phenotype of ribosomal protein deficiency: Implications for Diamond-Blackfan Anemia 80
Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma. 76
Genetic testing of hyperphenylalaninemias 75
A Series of Mutations in the Dihydropteridine Reductase Gene resulting in either RNA splicing or DHPR protein defects 74
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation 74
MOLECULAR SCREENING OF GENETIC-DEFECTS WITH RNA-SSCP ANALYSIS - THE PKU AND CYSTINURIA MODEL 73
ANALYSIS OF SEQUENCE CONTEXTS FLANKING T-CENTER-DOT-G MISMATCHES LEADS TO PREDICTIONS ABOUT REACTIVITY OF THE MISMATCHED T TO OSMIUM-TETROXIDE 72
Melanoma cutaneo e tumori non cutanei nei portatori di mutazione germinale del gene CDKN2A 71
Genetic predisposition for malignant mesothelioma: A concise review 68
Diamond-Blackfan anemia: A congenital defect in erythropoiesis 67
SCREENING FOR MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE FROM ITALIAN PATIENTS WITH PHENYLKETONURIA BY USING THE CHEMICAL CLEAVAGE METHOD - A NEW SPLICE MUTATION 66
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. 66
HAPLOTYPE DISTRIBUTION AND MOLECULAR DEFECTS AT THE PHENYLALANINE-HYDROXYLASE LOCUS IN ITALY 65
Rapp-Hodgkin and AEC Syndromes due to a new frameshift mutation in the TP63 gene 64
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia 64
Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis 64
RFLPS OF THE PHENYLALANINE-HYDROXYLASE GENE IN THE ITALIAN POPULATION 63
CHARACTERIZATION OF PHENYLKETONURIA ALLELES IN THE ITALIAN POPULATION 63
A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype 63
Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy 62
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis 62
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes 62
A FREQUENT ECORI POLYMORPHISM IN THE BCL-2 GENE 61
A spontaneous mutation causing unstable Hb Hammersmith: detection of the beta 42 TTT----TCT change by CCM and direct sequencing 61
Diamond-Blackfan Anemia: an Overview 61
The first reported case of cutaneous and uterine leiomyomatosis in a carrier of CDKN2A germline mutation 61
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype 61
PROGRESSION OF 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY FROM A PERIPHERAL INTO A CENTRAL PHENOTYPE 61
ERYTHROCYTE NA,LI COUNTERTRANSPORT AND ARTERIAL-PRESSURE IN DIABETIC ADOLESCENTS 60
Simultaneous screening for beta-thalassemia mutations by chemical cleavage of mismatch 60
Diamond-Blackfan anaemia in the Italian population 60
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations 60
Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy 59
Analysis of NAT2 genotypes as risk factors for asbestos related malignant mesothelioma (MM) in a general population study 59
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 58
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 58
Analysis of Telomeres in Peripheral Blood Cells From Patients With Bone Marrow Failure 57
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. 57
Analysis of the interactome of ribosomal protein S19 mutants 57
The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update 56
A NEWLY-CHARACTERIZED ALPHA-THALASSEMIA-1 DELETION REMOVES THE ENTIRE ALPHA-LIKE GLOBIN GENE-CLUSTER IN AN ITALIAN FAMILY 55
Evidence for a possible role of lipid peroxidation in experimental liver fibrosis 55
Mutations and phenotypes in dihydropteridine reductase deficiency in Italy 55
ANALYSIS OF THE CARBONYL-COMPOUNDS PRODUCED IN BETA-THALASSEMIC ERYTHROCYTES BY OXIDATIVE STRESS 54
Human peripheral blood granulocytes and myeloid leukemic cell lines express both transcripts encoding for stem cell factor 54
Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases 54
Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation 54
Peripheral blood DNA methylation as potential biomarker of Malignant Pleural Mesothelioma in asbestos-exposed subjects 54
Genetic predisposition to myelodysplastic syndromes: A challenge for adult hematologists 54
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity 53
Distinct RNA profiles in subpopulations of extracellular vesicles: apoptotic bodies, microvesicles and exosomes 53
Gene-asbestos interaction in malignant pleural mesothelioma susceptibility 53
III Italian Consensus Conference on Malignant Mesothelioma of the Pleura. Epidemiology, Public Health and Occupational Medicine related issues 53
Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area. 53
A new method for investigating microbiota-produced small molecules in adenomatous polyps 53
Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 52
Differential proteomic analysis in human cells subjected to ribosomal stress. 52
The european hematology association roadmap for european hematology research: A consensus document 52
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein 52
TETRAHYDROBIOPTERIN LOADING TEST IN HYPERPHENYLALANINEMIA 51
Diamond-Blackfan anemia: Report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population 51
Inherited Perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma 51
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia 51
La malattia genetica come eccezione alla regola. 51
Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer 51
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function 51
Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers 51
HAPLOTYPE DISTRIBUTION AND MOLECULAR DEFECTS OF PKU IN ITALY 50
HETEROZYGOTES AND HOMOZYGOTES - DISCRIMINATION BY CHEMICAL CLEAVAGE OF MISMATCH 50
Analysis of potential genetic risk factors for the development of malignant mesothelioma caused by asbestos exposure 50
Analysis of the ribosomal protein S19 interactome 50
Primer sets for cloning the human repertoire of T cell Receptor Variable regions 50
ERYTHROCYTES NA-LI COUNTERTRANSPORT IN DIABETIC ADOLESCENTS 50
Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations 50
Prognostic and predictive role of gut microbiota in advanced mesothelioma patients: a feasibility exploratory pilot study. 49
MOLECULAR-GENETICS OF CYSTINURIA - IDENTIFICATION OF 4 NEW MUTATIONS AND 7 POLYMORPHISMS, AND EVIDENCE FOR GENETIC-HETEROGENEITY 49
Diminished expression of phosphatidylethanolamine N-methyltransferase 2 during hepatocarcinogenesis 49
MOLECULAR ANALYSIS OF CONTIGUOUS EXONS OF THE PHENYLALANINE-HYDROXYLASE GENE - IDENTIFICATION OF A NEW PKU MUTATION 49
Phenotyping of phenylketonuric patients by oral phenylalanine loading 48
Fifth International Mutation Detection Workshop, May 13-16 1999, Vicoforte, Italy 48
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 48
2 NEW MUTATIONS IN THE DIHYDROPTERIDINE REDUCTASE GENE IN PATIENTS WITH TETRAHYDROBIOPTERIN DEFICIENCY 48
HUTCHINSON-GILFORD PROGERIA SYNDROME - CASE-REPORT 47
MUTATION DETECTION IN PHENYLKETONURIA BY USING CHEMICAL CLEAVAGE OF MISMATCH - IMPORTANCE OF USING PROBES FROM BOTH NORMAL AND PATIENT SAMPLES 47
DNA methylation profiling of asbestos-treated MeT5A cell line reveals novel pathways implicated in asbestos response 47
EVALUATION OF OUABAIN-SENSITIVE AND OUABAIN-INSENSITIVE RED BLOOD-CELL SODIUM-TRANSPORT IN OBESE CHILDREN 46
Compound Heterozygosity for Two New TERT Mutations in a Patient With Aplastic Anemia 46
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature 46
Dna methylation of fkbp5 as predictor of overall survival in malignant pleural mesothelioma 46
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment 46
High Frequency of Large Gene Deletions Detected by Multiplex Ligation-Dependent Probe Amplification in Diamond Blackfan Anemia 45
Genotype-phenotype correlation in dihydropteridine reductase deficiency 44
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 44
A genome-wide association study for malignant mesothelioma risk. 44
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever 44
Totale 6.181
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Categoria #
all - tutte 39.665
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 39.665
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.533 7 5 151 12 263 231 332 70 168 134 158 2
2020/20211.070 158 5 149 12 132 19 149 20 146 17 183 80
2021/20221.079 61 9 228 115 40 9 87 20 83 35 162 230
2022/20232.361 167 114 139 73 176 192 39 120 1.194 13 73 61
2023/20241.176 65 45 487 26 136 24 179 54 8 5 47 100
2024/202535 35 0 0 0 0 0 0 0 0 0 0 0
Totale 8.243