IRIS
FERRARI, MAURIZIO
 Distribuzione geografica
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Continente #
AS - Asia 3.203
NA - Nord America 1.880
EU - Europa 1.436
SA - Sud America 964
AF - Africa 77
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 7.565
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Nazione #
US - Stati Uniti d'America 1.813
SG - Singapore 1.378
CN - Cina 819
BR - Brasile 810
SE - Svezia 541
HK - Hong Kong 505
IT - Italia 293
VN - Vietnam 274
RU - Federazione Russa 169
DE - Germania 119
AR - Argentina 55
GB - Regno Unito 50
FI - Finlandia 48
IN - India 45
AT - Austria 38
EC - Ecuador 36
BD - Bangladesh 33
IE - Irlanda 32
CA - Canada 30
ID - Indonesia 28
ZA - Sudafrica 28
MX - Messico 27
PL - Polonia 26
ES - Italia 22
JP - Giappone 22
TR - Turchia 19
NL - Olanda 18
IQ - Iraq 17
UA - Ucraina 17
CO - Colombia 16
FR - Francia 16
MA - Marocco 16
PY - Paraguay 15
GR - Grecia 12
PE - Perù 9
TN - Tunisia 9
VE - Venezuela 9
LT - Lituania 8
IR - Iran 7
PK - Pakistan 7
AZ - Azerbaigian 6
CL - Cile 6
UY - Uruguay 6
UZ - Uzbekistan 6
BE - Belgio 5
DZ - Algeria 5
HU - Ungheria 5
KR - Corea 5
IL - Israele 4
BG - Bulgaria 3
CH - Svizzera 3
DO - Repubblica Dominicana 3
EG - Egitto 3
KE - Kenya 3
KW - Kuwait 3
LB - Libano 3
MK - Macedonia 3
NP - Nepal 3
PH - Filippine 3
RO - Romania 3
SA - Arabia Saudita 3
AE - Emirati Arabi Uniti 2
AU - Australia 2
BB - Barbados 2
BH - Bahrain 2
BO - Bolivia 2
ET - Etiopia 2
GA - Gabon 2
KG - Kirghizistan 2
ME - Montenegro 2
NI - Nicaragua 2
PS - Palestinian Territory 2
SD - Sudan 2
AL - Albania 1
BF - Burkina Faso 1
CZ - Repubblica Ceca 1
EU - Europa 1
GE - Georgia 1
GT - Guatemala 1
JO - Giordania 1
KZ - Kazakistan 1
MO - Macao, regione amministrativa speciale della Cina 1
MU - Mauritius 1
MW - Malawi 1
NZ - Nuova Zelanda 1
PA - Panama 1
PT - Portogallo 1
RE - Reunion 1
SN - Senegal 1
TW - Taiwan 1
UG - Uganda 1
VG - Isole Vergini Britanniche 1
XK - ???statistics.table.value.countryCode.XK??? 1
ZM - Zambia 1
Totale 7.565
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Città #
Singapore 529
Hong Kong 505
Dallas 396
Ashburn 290
Shanghai 215
Hefei 196
Lawrence 190
Princeton 190
Ho Chi Minh City 108
Milan 105
Beijing 96
São Paulo 85
Moscow 82
New York 77
Hanoi 48
Nuremberg 44
Helsinki 40
Los Angeles 37
Dublin 32
Boardman 26
Rio de Janeiro 26
Denver 23
Warsaw 23
Guangzhou 18
Johannesburg 17
Seattle 16
Rome 15
Tokyo 15
Vienna 15
Washington 15
Belo Horizonte 14
Houston 14
Pune 14
Brasília 13
Brooklyn 13
Curitiba 13
Guayaquil 13
Montreal 13
Da Nang 12
Orem 12
Poplar 12
Atlanta 11
Haiphong 11
Porto Alegre 11
The Dalles 11
Chicago 10
Columbus 10
Frankfurt am Main 10
Munich 10
Santa Clara 10
Sorocaba 10
Athens 9
Buenos Aires 9
Campinas 9
Chennai 9
Dhaka 9
Mexico City 9
Phoenix 9
Quito 9
Salvador 9
Ankara 8
Boston 8
Guarulhos 8
London 8
Querétaro 8
Baghdad 7
Bergamo 7
Brescia 7
Council Bluffs 7
Goiânia 7
Jakarta 7
Manaus 7
Santo André 7
Shenzhen 7
Stockholm 7
Xi'an 7
Amsterdam 6
Asunción 6
Baku 6
Contagem 6
Ha Long 6
Hải Dương 6
Lima 6
Naples 6
Ninh Bình 6
Recife 6
San Francisco 6
Thái Bình 6
Turku 6
Biên Hòa 5
Campos dos Goytacazes 5
Catanduva 5
Cesano Boscone 5
Falkenstein 5
Fortaleza 5
Juiz de Fora 5
Jundiaí 5
Montevideo 5
Osasco 5
Quanzhou 5
Totale 4.052
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Nome #
Loss of mismatched HLA in leukemia after stem-cell transplantation 133
A Brugada Syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization 97
Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy 90
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation 87
Commensal bacteria promote endocrine resistance in prostate cancer through androgen biosynthesis 86
An approach for screening of Hereditary Hyperferritinemia Cataract Syndrome (HHCS) by a new DG-DGGE method for rapid mutational scanning in ferritin L-chain IRE. 85
A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation. 82
A whole-genome sequencing study associates GRAMD1B with multiple sclerosis risk and disease activity 77
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene 73
A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility 70
Analytical Ancestry: Evolution of the Array in Analysis 70
When to Perform Bone Scan in Patients with Newly Diagnosed Prostate Cancer: External Validation of the Currently Available Guidelines and Proposal of a Novel Risk Stratification Tool 69
IFCC interim guidelines on biochemical/hematological monitoring of COVID-19 patients 68
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome 68
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 66
Epidemiology of diabetic ketoacidosis in Italy 66
Advancing the education in molecular diagnostics: The IFCC-Initiative "Clinical Molecular Biology Curriculum" (C-CMBC); A ten-year experience 65
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia 65
Analysis of clinically relevant single nucleotide polymorphisms by use of microelectronic array technology 64
Assessment of human herpesvirus-6 infection in mesenchymal stromal cells ex vivo expanded for clinical use 64
A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia 63
A novel LIPS assay for insulin autoantibodies 63
Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants 63
Analysis of KRAS, NRAS and BRAF mutational profile by combination of in-tube hybridization and universal tag-microarray in tumor tissue and plasma of colorectal cancer patients 62
A novel MEN1 gene mutation 61
Analysis of ferritin genes in Parkinson disease. 61
An overview of current microarray-based human globin gene mutation detection methods 60
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 59
A new CACNA1A Gene Mutation in Familial Hemiplegic Migraine Acetazolamide-Responsive and Ataxia 59
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing 59
Cardiac magneti resonance and arrhythmic risk stratification of cardiomyopathy associated with lamin A/C mutations: results from a 5 years study 59
Analysis of nucleotide variations in genes of iron management in patients of Parkinson’s disease and other movement disorders. 55
Erratum: Genetic testing in neurology exploiting next generation sequencing: State of art (Neural Regeneration Research (2020) 15:2 (265-266) DOI: 10.4103/1673-5374.265554) 52
A new microarray substrate for ultra-sensitive genotyping of KRAS and BRAF gene variants in colorectal cancer. 51
The E1015K Variant in the Synprint Region of the CaV2.1 Channel Alters Channel Function and is Associated with Different Migraine Phenotypes. 50
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging 50
Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72 49
Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene 49
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no hematological or neurological symptoms 48
Premature cardiac senescence in patients with lamin A/C mutations: at least 5 years gap from electrical to mechanical dysfunction 46
Predictive biomarkers of pre-eclampsia and effectiveness of preventative interventions for the disease 45
Somatic mutations of JAK2 exon 12 in patients with JAK2 (V817F)- negative myeloproliferative disorders 45
Generation of β cells from iPSC of a MODY8 patient with a novel mutation in the carboxyl ester lipase (CEL) gene 44
Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers. 44
Genomic typing for patient-specific human leukocyte antigen-alleles is an efficient tool for relapse detection of high-risk hematopoietic malignancies after stem cell transplantation from alternative donors 43
Validation of Double Gradient Denaturing Gradient Gel Electrophoresis through Multigenic Retrospective Analysis 42
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3) 42
Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations. 42
Droplet digital polymerase chain reaction for DNMT3A and IDH1/2 mutations to improve early detection of acute myeloid leukemia relapse after allogeneic hematopoietic stem cell transplantation 42
Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches 42
SCN5A nonsense mutation and NF1 frameshift mutation in a family with brugada syndrome and neurofibromatosis 42
Evaluation of a panel of circulating DNA, RNA and protein potential markers for pathologies of pregnancy 41
Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report 41
Autoantibodies in insulin-dependent diabetes recognize distinct cytoplasmic domains of the protein tyrosin phosphatase-like IA-2 autoantigen 41
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation 41
Loss of Mismatched HLA as a Mechanism of Leukemia Immune Escape in Family Haploidentical and Unrelated HSCT: Analysis of 103 Transplants From Alternative Donors 41
High-throughput genetic characterization of a cohort of Brugada syndrome patients. 40
Fetal diagnosis of beta-thalassaemia by DNA analysis in Italy 40
Autosomal dominant migraine with prolonged aura in a family carrying a Notch 3 gene mutation 40
Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study 40
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome 40
Evaluation of human gene variants detection in amplicon pools by the GS-FLX parallel 40
Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients 40
Correlation of fetal DNA levels in maternal plasma with Doppler status in pathological pregnacies 39
Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia. 39
Organization and regional distribution of centers for the management of children and adolescents with diabetes in Italy 39
Genetic Heterogenity in Italian Families with Familial Hemiplegic Migraine 38
The 1-in-X Effect on the Subjective Assessment of Medical Probabilities. 38
Laboratory medicine meets precision medicine: The paradigm of metabolomics in perinatology: Proposals from the 4th International Conference on Neonatal and Pediatric Laboratory Medicine. 38
Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients. 38
Duodenal duplication cyst causing severe pancreatitis: Imaging findings and pathological correlation 38
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the P/Q-type calcium channel alfa 1-subunit gene (CACNL1A4) on chromosome 19p13.1 38
Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study 38
Insulin pump failures in Italian children with Type 1 diabetes: retrospective 1-year cohort study 38
Association of LOXIN, a new functional splicing isoform of the OLR1 gene, with severity and prognostic localization of critical coronary artery stenoses 37
The -582A>G variant of the HAMP promoter is not associated with high serum ferritin levels in normal subjects 37
HIF1A and MIF as potential predictive mRNA biomarkers of pre-eclampsia: a longitudinal prospective study in high risk population 37
Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration 37
IFCC interim guidelines on molecular testing of SARS-CoV-2 infection 37
Next Generation Sequencing: From Research Area to Clinical Practice 37
Genetic and clinical heterogeneity of ferroportin disease 36
Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia 36
Co-segregation of LMNA and PMP22 gene mutations in the same family. 36
From chance to choice: The use of a verbal analogy in the communication of risk. 36
P3170Innovative approach for risk stratification of LMNA-related cardiomyopathy: results from an integrated cardiological and neurological 10-year follow-up multicentre study 36
MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer 36
Erratum: Organization and regional distribution of centers for the management of children and adolescents with diabetes in Italy (Ital J Pediatr (2015) 41 (74) DOI:10.1186/s13052-015-0179-6) 35
Denaturing HPLC profoling of the ABCA4 gene for reliable detection of allelic variations. 35
Integrated PCR amplification and detection processes on a Lab-on-Chip platform: a new advanced solution for molecular diagnostics 35
Molecular Diagnostics by Microelectroic Microchips. 35
Feasibility Study for a Microchip-Based Approach for Noninvasive Prenatal Diagnosis of Genetic Diseases 35
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories 35
Genomic Loss of the Mismatched HLA Locus in Leukemia Is a Major Mechanism of in Vivo Escape from T Cell Immunosurveillance Following Haploidentical HSCT 35
Double-Gradient Denaturing Gradient Gel Electrophoresis Assay for Identification of L-Ferritin Iron-responsive Element Mutations Responsible for Hereditary Hyperferritinemia-Cataract Syndrome: Identification of the New Mutation C14G 35
Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia. 35
Beyond the cardiovascular risk charts: The new way of hybrid profiles 35
Genetic surfactant dysfunction in newborn infants and children with acute and chronic lung disease 35
Structural and functional brain signatures of C9orf72 in motor neuron disease 35
Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype 35
New-onset atrial fibrillation as first clinical manifestation of latent Brugada syndrome: Prevalence and clinical significance 35
Totale 4.971
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Categoria #
all - tutte 68.884
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 68.884
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20217 0 0 0 0 0 3 1 0 1 0 1 1
2021/2022150 0 0 1 33 17 19 25 9 10 7 9 20
2022/20231.004 424 219 86 4 7 112 28 51 40 5 11 17
2023/2024510 17 7 50 123 30 101 18 45 0 18 27 74
2024/20252.421 305 31 32 71 80 179 342 200 519 275 182 205
2025/20263.465 540 629 646 1.147 482 21 0 0 0 0 0 0
Totale 7.686