IRIS
FERRARI, MAURIZIO
 Distribuzione geografica
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Continente #
EU - Europa 785
NA - Nord America 752
AS - Asia 151
SA - Sud America 5
AF - Africa 2
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 1.698
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Nazione #
US - Stati Uniti d'America 747
SE - Svezia 535
IT - Italia 132
CN - Cina 78
FI - Finlandia 37
SG - Singapore 36
IE - Irlanda 29
DE - Germania 20
IN - India 16
GR - Grecia 9
GB - Regno Unito 7
JP - Giappone 6
ES - Italia 5
IR - Iran 5
TR - Turchia 4
BR - Brasile 3
CA - Canada 3
FR - Francia 3
KR - Corea 3
AR - Argentina 2
AU - Australia 2
BE - Belgio 2
MX - Messico 2
PH - Filippine 2
SD - Sudan 2
CH - Svizzera 1
EU - Europa 1
HU - Ungheria 1
MK - Macedonia 1
MO - Macao, regione amministrativa speciale della Cina 1
NL - Olanda 1
RO - Romania 1
RU - Federazione Russa 1
Totale 1.698
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Città #
Lawrence 191
Princeton 191
Ashburn 143
Milan 63
Shanghai 55
New York 52
Helsinki 37
Dublin 29
Boardman 22
Singapore 16
Pune 14
Seattle 12
Washington 11
Athens 6
Houston 6
Los Angeles 5
Rome 5
Viareggio 5
Favria 4
Frankfurt am Main 4
Mountain View 4
Aci Sant'Antonio 3
Azzano San Paolo 3
Lykovrysi 3
Siena 3
Airdrie 2
Ankara 2
Antwerp 2
Barcelona 2
Bari 2
Beijing 2
Bozeman 2
Brisbane 2
Castleford 2
Falkenstein 2
Gatineau 2
Guangzhou 2
Kish 2
Kunming 2
Legnaro 2
Mexico City 2
Naples 2
Nerviano 2
Nola 2
Padova 2
Paris 2
Redwood City 2
Rio Grande 2
Rockville 2
Tokyo 2
Trento 2
Borås 1
Brescia 1
Budapest 1
Cantù 1
Casorate Primo 1
Castiglione D'adda 1
Chennai 1
Denver 1
Ekimaedori 1
Foshan 1
Hanover 1
Iasi 1
Izmir 1
Juiz de Fora 1
Legnano 1
Lipa City 1
London 1
Montréal 1
Murphy 1
Naaldwijk 1
Napoli 1
Newark 1
Novara 1
Nuremberg 1
Otemachi 1
Powder Springs 1
Puyang 1
Santa Clara 1
Santa Maria 1
Sospiro 1
Springfield 1
Stockholm 1
Tehran 1
Wayanad 1
Xian 1
Zanjan 1
Zurich 1
Totale 976
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Nome #
Commensal bacteria promote endocrine resistance in prostate cancer through androgen biosynthesis 41
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. 28
Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy 26
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 25
Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants 25
Cardiac magneti resonance and arrhythmic risk stratification of cardiomyopathy associated with lamin A/C mutations: results from a 5 years study 24
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene 23
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) 23
Epidemiology of diabetic ketoacidosis in Italy 23
The E1015K Variant in the Synprint Region of the CaV2.1 Channel Alters Channel Function and is Associated with Different Migraine Phenotypes. 22
Analytical Ancestry: Evolution of the Array in Analysis 22
A Brugada Syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization 21
Analysis of ferritin genes in Parkinson disease. 21
Loss of mismatched HLA in leukemia after stem-cell transplantation 19
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 18
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging 18
Autoantibodies in insulin-dependent diabetes recognize distinct cytoplasmic domains of the protein tyrosin phosphatase-like IA-2 autoantigen 17
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia 17
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing 17
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 16
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation 16
IFCC interim guidelines on molecular testing of SARS-CoV-2 infection 16
A novel MEN1 gene mutation 15
A new CACNA1A Gene Mutation in Familial Hemiplegic Migraine Acetazolamide-Responsive and Ataxia 15
The policy of public health genomics in Italy. 15
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 15
Autosomal dominant migraine with prolonged aura in a family carrying a Notch 3 gene mutation 15
HIF1A and MIF as potential predictive mRNA biomarkers of pre-eclampsia: a longitudinal prospective study in high risk population 15
Premature cardiac senescence in patients with lamin A/C mutations: at least 5 years gap from electrical to mechanical dysfunction 15
A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation. 15
A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility 14
Co-segregation of LMNA and PMP22 gene mutations in the same family. 14
Somatic mutations of JAK2 exon 12 in patients with JAK2 (V817F)- negative myeloproliferative disorders 14
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 14
Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study 14
Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study 14
Generation of β cells from iPSC of a MODY8 patient with a novel mutation in the carboxyl ester lipase (CEL) gene 14
A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia 13
Genetic factors predisposing to bronchopulmonary dysplasia. A pilot study by exome sequencing and pathways analysis 13
An overview of current microarray-based human globin gene mutation detection methods 13
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3) 13
Analysis of nucleotide variations in genes of iron management in patients of Parkinson’s disease and other movement disorders. 13
A novel LIPS assay for insulin autoantibodies 13
Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration 13
Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene 13
Lateral approach for sinus floor elevation: large versus small bone window – a split-mouth randomized clinical trial 13
Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers. 13
Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade? 13
Genetic Heterogenity in Italian Families with Familial Hemiplegic Migraine 12
Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia 12
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no hematological or neurological symptoms 12
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 12
P3170Innovative approach for risk stratification of LMNA-related cardiomyopathy: results from an integrated cardiological and neurological 10-year follow-up multicentre study 12
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 12
SCN5A nonsense mutation and NF1 frameshift mutation in a family with brugada syndrome and neurofibromatosis 12
Assessment of human herpesvirus-6 infection in mesenchymal stromal cells ex vivo expanded for clinical use 12
Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients 12
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome 12
Genetic and clinical heterogeneity of ferroportin disease 11
Genetic predisposing factors to bronchopulmonary dysplasia: preliminary data from a multicentre study 11
CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology 11
Advancing the education in molecular diagnostics: The IFCC-Initiative "Clinical Molecular Biology Curriculum" (C-CMBC); A ten-year experience 11
Genomic loss of mismatched HLA in leukemia is a major mechanism of in vivo escape from T cell immunosurveillance following haploidentical hematopoietic stem cell transplantation 11
Structural and functional brain signatures of C9orf72 in motor neuron disease 11
Analysis of clinically relevant single nucleotide polymorphisms by use of microelectronic array technology 11
MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer 11
COLD-PCR and microarray: Two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma 11
Organization and regional distribution of centers for the management of children and adolescents with diabetes in Italy 11
Denaturing HPLC Analysis of DNA Deletions and Insertions 10
Cytogenic potential of CD133+ progenitor cells of human polycystic kidneys. 10
Comparison of clinical-radiological and molecular findings in hypochondroplasia 10
High-throughput genetic characterization of a cohort of Brugada syndrome patients. 10
Lack of association of DMB polymorphism with insulin-dependent diabetes 10
A new microarray substrate for ultra-sensitive genotyping of KRAS and BRAF gene variants in colorectal cancer. 10
Early visual function impairment in CADASIL 10
Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage 10
Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene 10
Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities 10
Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72 10
Impaired testicular signaling of vitamin A and vitamin K contributes to the aberrant composition of the extracellular matrix in idiopathic germ cell aplasia 10
Evaluation of a panel of circulating DNA, RNA and protein potential markers for pathologies of pregnancy 9
Using Comparison Scenarios to Improve Prenatal Risk Communication 9
Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR 9
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of ß-thalassemia 9
Validation of Double Gradient Denaturing Gradient Gel Electrophoresis through Multigenic Retrospective Analysis 9
HLA-DQ screening for risk assessment of insulin-dependent diabetes in Northern Italy 9
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories 9
Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations. 9
Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detect by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts 9
DNA microarray-based solid-phase PCR on copoly (DMA-NAS-MAPS) silicon coated slides: An example of relevant clinical application 9
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation 9
Loss of Mismatched HLA as a Mechanism of Leukemia Immune Escape in Family Haploidentical and Unrelated HSCT: Analysis of 103 Transplants From Alternative Donors 9
Predictive biomarkers of pre-eclampsia and effectiveness of preventative interventions for the disease 8
Identification of protein tyrosine phosphatase-like IA2 (islet cell antigen 512) as the insulin-dependent diabetes-related 37/40K autoantigen and a target of islet cell antibodies 8
HLA DQA1-DQB1-TAP2 haplotypes in IDDM families: no evidence for an additional contribution to disease risk by the TAP2 locus 8
Association of LOXIN, a new functional splicing isoform of the OLR1 gene, with severity and prognostic localization of critical coronary artery stenoses 8
Fetal diagnosis of beta-thalassaemia by DNA analysis in Italy 8
Null ABCA3 in humans: Large homozygous ABCA3 deletion, correlation to clinical-pathological findings 8
From chance to choice: The use of a verbal analogy in the communication of risk. 8
Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia. 8
Totale 1.361
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Categoria #
all - tutte 34.025
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 34.025
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202035 25 0 2 2 1 2 0 0 0 3 0 0
2020/202123 4 0 0 10 2 3 1 0 1 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
2024/20254 4 0 0 0 0 0 0 0 0 0 0 0
Totale 1.807