IRIS
FERRARI, MAURIZIO
 Distribuzione geografica
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Continente #
EU - Europa 3.939
AS - Asia 3.769
NA - Nord America 2.469
SA - Sud America 1.041
AF - Africa 94
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 2
Totale 11.321
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Nazione #
US - Stati Uniti d'America 2.374
RU - Federazione Russa 2.362
SG - Singapore 1.436
CN - Cina 1.101
BR - Brasile 861
SE - Svezia 543
HK - Hong Kong 538
VN - Vietnam 370
IT - Italia 328
FR - Francia 200
DE - Germania 133
GB - Regno Unito 76
IN - India 61
AR - Argentina 57
FI - Finlandia 50
BD - Bangladesh 44
EC - Ecuador 42
AT - Austria 40
CA - Canada 39
MX - Messico 38
ID - Indonesia 35
PL - Polonia 34
IE - Irlanda 32
ZA - Sudafrica 32
NL - Olanda 29
IQ - Iraq 28
TR - Turchia 28
ES - Italia 26
JP - Giappone 26
CO - Colombia 23
UA - Ucraina 23
MA - Marocco 18
PY - Paraguay 18
GR - Grecia 12
PK - Pakistan 12
VE - Venezuela 12
PE - Perù 11
TN - Tunisia 11
DZ - Algeria 9
LT - Lituania 9
PH - Filippine 9
SA - Arabia Saudita 9
UZ - Uzbekistan 9
CH - Svizzera 7
CL - Cile 7
IR - Iran 7
MY - Malesia 7
AZ - Azerbaigian 6
UY - Uruguay 6
AE - Emirati Arabi Uniti 5
AU - Australia 5
BE - Belgio 5
HU - Ungheria 5
KR - Corea 5
LB - Libano 5
DO - Repubblica Dominicana 4
EG - Egitto 4
IL - Israele 4
KE - Kenya 4
NP - Nepal 4
AL - Albania 3
BG - Bulgaria 3
BO - Bolivia 3
KW - Kuwait 3
MK - Macedonia 3
RO - Romania 3
RS - Serbia 3
BB - Barbados 2
BH - Bahrain 2
BY - Bielorussia 2
CR - Costa Rica 2
ET - Etiopia 2
GA - Gabon 2
GE - Georgia 2
JO - Giordania 2
KG - Kirghizistan 2
MD - Moldavia 2
ME - Montenegro 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
PA - Panama 2
PS - Palestinian Territory 2
SD - Sudan 2
SN - Senegal 2
TH - Thailandia 2
BF - Burkina Faso 1
CZ - Repubblica Ceca 1
EE - Estonia 1
EU - Europa 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
KZ - Kazakistan 1
LK - Sri Lanka 1
MO - Macao, regione amministrativa speciale della Cina 1
MQ - Martinica 1
MU - Mauritius 1
MW - Malawi 1
NG - Nigeria 1
Totale 11.310
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Città #
Singapore 565
Moscow 563
Hong Kong 535
Ashburn 409
Dallas 398
San Jose 276
Shanghai 219
Hefei 197
Lawrence 191
Princeton 191
Lauterbourg 174
Ho Chi Minh City 146
Milan 112
Beijing 103
São Paulo 94
New York 90
Hanoi 67
Los Angeles 53
Nuremberg 49
Helsinki 40
Dublin 32
Orem 30
Warsaw 28
Boardman 27
Rio de Janeiro 27
Denver 26
Santa Clara 26
Guangzhou 21
Poplar 20
Johannesburg 19
Tokyo 19
Frankfurt am Main 18
Houston 18
Atlanta 17
Montreal 17
Seattle 17
Haiphong 16
Rome 16
Vienna 16
Washington 16
Belo Horizonte 15
Brooklyn 15
Chennai 15
Phoenix 15
Curitiba 14
Da Nang 14
Guayaquil 14
Pune 14
Brasília 13
Mexico City 13
Porto Alegre 13
Ankara 11
Baghdad 11
Chicago 11
Dhaka 11
London 11
Quito 11
The Dalles 11
Amsterdam 10
Columbus 10
Jakarta 10
Munich 10
Querétaro 10
Salvador 10
Shenzhen 10
Sorocaba 10
Athens 9
Boston 9
Buenos Aires 9
Campinas 9
Guarulhos 8
Hải Dương 8
Manaus 8
Stockholm 8
Asunción 7
Bergamo 7
Biên Hòa 7
Brescia 7
Council Bluffs 7
Goiânia 7
Ha Long 7
Lima 7
Manchester 7
Recife 7
Santo André 7
Tashkent 7
Thái Bình 7
Xi'an 7
Baku 6
Contagem 6
Lahore 6
Naples 6
Ninh Bình 6
Ribeirão Preto 6
San Francisco 6
São Gonçalo 6
Toronto 6
Turku 6
Bogotá 5
Campos dos Goytacazes 5
Totale 5.446
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Nome #
Loss of mismatched HLA in leukemia after stem-cell transplantation 182
A Brugada Syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization 129
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. 121
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation 120
Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy 119
A whole-genome sequencing study associates GRAMD1B with multiple sclerosis risk and disease activity 118
A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility 116
A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation. 115
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene 114
Commensal bacteria promote endocrine resistance in prostate cancer through androgen biosynthesis 112
Analytical Ancestry: Evolution of the Array in Analysis 106
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 103
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia 102
A novel LIPS assay for insulin autoantibodies 100
A novel MEN1 gene mutation 99
Epidemiology of diabetic ketoacidosis in Italy 99
A new CACNA1A Gene Mutation in Familial Hemiplegic Migraine Acetazolamide-Responsive and Ataxia 98
Assessment of human herpesvirus-6 infection in mesenchymal stromal cells ex vivo expanded for clinical use 97
Analysis of ferritin genes in Parkinson disease. 95
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 95
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 94
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome 94
Analysis of clinically relevant single nucleotide polymorphisms by use of microelectronic array technology 93
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing 93
A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia 92
Advancing the education in molecular diagnostics: The IFCC-Initiative "Clinical Molecular Biology Curriculum" (C-CMBC); A ten-year experience 92
Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants 92
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 91
A new microarray substrate for ultra-sensitive genotyping of KRAS and BRAF gene variants in colorectal cancer. 88
Cardiac magneti resonance and arrhythmic risk stratification of cardiomyopathy associated with lamin A/C mutations: results from a 5 years study 88
An overview of current microarray-based human globin gene mutation detection methods 87
IFCC interim guidelines on biochemical/hematological monitoring of COVID-19 patients 87
Analysis of nucleotide variations in genes of iron management in patients of Parkinson’s disease and other movement disorders. 80
Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene 76
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) 74
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no hematological or neurological symptoms 73
The E1015K Variant in the Synprint Region of the CaV2.1 Channel Alters Channel Function and is Associated with Different Migraine Phenotypes. 73
Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72 73
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging 67
Genetic Heterogenity in Italian Families with Familial Hemiplegic Migraine 66
Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches 66
Validation of Double Gradient Denaturing Gradient Gel Electrophoresis through Multigenic Retrospective Analysis 65
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 64
Correlation of fetal DNA levels in maternal plasma with Doppler status in pathological pregnacies 63
Autosomal dominant migraine with prolonged aura in a family carrying a Notch 3 gene mutation 63
Somatic mutations of JAK2 exon 12 in patients with JAK2 (V817F)- negative myeloproliferative disorders 63
Premature cardiac senescence in patients with lamin A/C mutations: at least 5 years gap from electrical to mechanical dysfunction 63
Fetal diagnosis of beta-thalassaemia by DNA analysis in Italy 62
Generation of β cells from iPSC of a MODY8 patient with a novel mutation in the carboxyl ester lipase (CEL) gene 62
Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers. 62
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 61
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 61
Evaluation of a panel of circulating DNA, RNA and protein potential markers for pathologies of pregnancy 60
Duodenal duplication cyst causing severe pancreatitis: Imaging findings and pathological correlation 60
Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients 60
Predictive biomarkers of pre-eclampsia and effectiveness of preventative interventions for the disease 59
High-throughput genetic characterization of a cohort of Brugada syndrome patients. 59
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3) 59
The -582A>G variant of the HAMP promoter is not associated with high serum ferritin levels in normal subjects 59
HLA-DQ screening for risk assessment of insulin-dependent diabetes in Northern Italy 59
Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations. 59
Loss of Mismatched HLA as a Mechanism of Leukemia Immune Escape in Family Haploidentical and Unrelated HSCT: Analysis of 103 Transplants From Alternative Donors 59
SCN5A nonsense mutation and NF1 frameshift mutation in a family with brugada syndrome and neurofibromatosis 59
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation 58
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) 57
The 1-in-X Effect on the Subjective Assessment of Medical Probabilities. 57
Autoantibodies in insulin-dependent diabetes recognize distinct cytoplasmic domains of the protein tyrosin phosphatase-like IA-2 autoantigen 57
Evaluation of human gene variants detection in amplicon pools by the GS-FLX parallel 57
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 56
Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients. 56
Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study 56
Impaired testicular signaling of vitamin A and vitamin K contributes to the aberrant composition of the extracellular matrix in idiopathic germ cell aplasia 56
Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study 56
Identification of two novel mutations in the 5 ' untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning 55
Cytogenic potential of CD133+ progenitor cells of human polycystic kidneys. 54
Comparison of clinical-radiological and molecular findings in hypochondroplasia 54
Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia 54
Genetics can contribute to the prognosis of the Brugada syndrome: a pilot model for risk stratification. 54
Association of LOXIN, a new functional splicing isoform of the OLR1 gene, with severity and prognostic localization of critical coronary artery stenoses 54
Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia. 54
Structural and functional brain signatures of C9orf72 in motor neuron disease 54
Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype 54
Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome 54
Lateral approach for sinus floor elevation: large versus small bone window – a split-mouth randomized clinical trial 54
Denaturing HPLC profoling of the ABCA4 gene for reliable detection of allelic variations. 53
Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage 53
The policy of public health genomics in Italy. 53
From chance to choice: The use of a verbal analogy in the communication of risk. 53
Genotyping β-Globin Gene Mutations on Copolymer-Coated Glass Slides with the Ligation Detection Reaction 52
Genetic and clinical heterogeneity of ferroportin disease 52
HLA DQA1-DQB1-TAP2 haplotypes in IDDM families: no evidence for an additional contribution to disease risk by the TAP2 locus 52
Genetic surfactant dysfunction in newborn infants and children with acute and chronic lung disease 52
MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer 52
Organization and regional distribution of centers for the management of children and adolescents with diabetes in Italy 52
Next Generation Sequencing: From Research Area to Clinical Practice 52
Co-segregation of LMNA and PMP22 gene mutations in the same family. 51
HIF1A and MIF as potential predictive mRNA biomarkers of pre-eclampsia: a longitudinal prospective study in high risk population 51
Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease 51
New-onset atrial fibrillation as first clinical manifestation of latent Brugada syndrome: Prevalence and clinical significance 51
IFCC interim guidelines on molecular testing of SARS-CoV-2 infection 51
Totale 7.312
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Categoria #
all - tutte 76.544
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 76.544
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212 0 0 0 0 0 0 0 0 0 0 1 1
2021/2022151 0 0 1 34 17 19 25 9 10 7 9 20
2022/20231.006 426 219 86 4 7 112 28 51 40 5 11 17
2023/2024510 17 7 50 123 30 101 18 45 0 18 27 74
2024/20252.429 307 31 32 71 80 180 344 201 521 275 182 205
2025/20267.211 541 630 648 1.157 483 215 631 490 2.158 258 0 0
Totale 11.443