IRIS
FERRARI, MAURIZIO
 Distribuzione geografica
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Continente #
EU - Europa 983
NA - Nord America 785
AS - Asia 425
SA - Sud America 12
AF - Africa 2
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 2.210
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Nazione #
US - Stati Uniti d'America 779
SE - Svezia 535
SG - Singapore 219
IT - Italia 164
CN - Cina 163
RU - Federazione Russa 154
FI - Finlandia 37
IE - Irlanda 31
DE - Germania 26
IN - India 18
GR - Grecia 10
BR - Brasile 9
GB - Regno Unito 7
ES - Italia 6
IR - Iran 6
JP - Giappone 6
CA - Canada 4
NL - Olanda 4
TR - Turchia 4
FR - Francia 3
KR - Corea 3
PH - Filippine 3
AR - Argentina 2
AU - Australia 2
BE - Belgio 2
MX - Messico 2
SD - Sudan 2
AZ - Azerbaigian 1
CH - Svizzera 1
EU - Europa 1
HU - Ungheria 1
MK - Macedonia 1
MO - Macao, regione amministrativa speciale della Cina 1
PE - Perù 1
RO - Romania 1
UZ - Uzbekistan 1
Totale 2.210
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Città #
Lawrence 191
Princeton 191
Ashburn 144
Singapore 141
Moscow 81
Milan 73
Shanghai 68
New York 52
Helsinki 37
Dublin 31
Boardman 22
Pune 14
Seattle 12
Washington 11
Guangzhou 9
Athens 7
Dallas 7
Los Angeles 7
Rome 7
Beijing 6
Frankfurt am Main 6
Houston 6
Shenzhen 5
Viareggio 5
Favria 4
Jiaxing 4
Mountain View 4
Verona 4
Aci Sant'Antonio 3
Azzano San Paolo 3
Brescia 3
Foshan 3
Lykovrysi 3
Quanzhou 3
Santo André 3
Siena 3
São Paulo 3
Xi'an 3
Airdrie 2
Ankara 2
Antwerp 2
Aversa 2
Barcelona 2
Bari 2
Bozeman 2
Brisbane 2
Bussero 2
Castleford 2
Dalian 2
Falkenstein 2
Gatineau 2
Genoa 2
Kish 2
Kunming 2
Legnaro 2
Mexico City 2
Naples 2
Nerviano 2
Newark 2
Nola 2
Padova 2
Paris 2
Piombino 2
Redwood City 2
Rio Grande 2
Rockville 2
Santa Clara 2
St Petersburg 2
Tokyo 2
Trento 2
Wuxi 2
Ancona 1
Baku 1
Borås 1
Budapest 1
Cantù 1
Casorate Primo 1
Castiglione D'adda 1
Chennai 1
Chongqing 1
Council Bluffs 1
Denver 1
Ekimaedori 1
Freiburg im Breisgau 1
Friesland 1
Fuzhou 1
Groningen 1
Hanover 1
Harbin 1
Iasi 1
Izmir 1
Juiz de Fora 1
Legnano 1
Lima 1
Lipa City 1
London 1
Manila 1
Montréal 1
Munich 1
Murphy 1
Totale 1.274
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Nome #
Commensal bacteria promote endocrine resistance in prostate cancer through androgen biosynthesis 43
Loss of mismatched HLA in leukemia after stem-cell transplantation 39
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 35
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. 32
Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants 30
Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy 29
Epidemiology of diabetic ketoacidosis in Italy 29
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene 28
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) 27
Cardiac magneti resonance and arrhythmic risk stratification of cardiomyopathy associated with lamin A/C mutations: results from a 5 years study 27
A Brugada Syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization 25
Analysis of ferritin genes in Parkinson disease. 25
The E1015K Variant in the Synprint Region of the CaV2.1 Channel Alters Channel Function and is Associated with Different Migraine Phenotypes. 25
Analytical Ancestry: Evolution of the Array in Analysis 25
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation 23
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis 21
Somatic mutations of JAK2 exon 12 in patients with JAK2 (V817F)- negative myeloproliferative disorders 21
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 20
Autoantibodies in insulin-dependent diabetes recognize distinct cytoplasmic domains of the protein tyrosin phosphatase-like IA-2 autoantigen 20
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging 20
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia 20
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing 20
A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia 19
A new CACNA1A Gene Mutation in Familial Hemiplegic Migraine Acetazolamide-Responsive and Ataxia 19
Autosomal dominant migraine with prolonged aura in a family carrying a Notch 3 gene mutation 19
A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation. 19
Generation of β cells from iPSC of a MODY8 patient with a novel mutation in the carboxyl ester lipase (CEL) gene 19
A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility 18
A novel MEN1 gene mutation 18
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 18
Analysis of nucleotide variations in genes of iron management in patients of Parkinson’s disease and other movement disorders. 18
Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study 18
IFCC interim guidelines on molecular testing of SARS-CoV-2 infection 18
The policy of public health genomics in Italy. 17
HIF1A and MIF as potential predictive mRNA biomarkers of pre-eclampsia: a longitudinal prospective study in high risk population 17
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 17
A novel LIPS assay for insulin autoantibodies 17
Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers. 17
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome 17
High-throughput genetic characterization of a cohort of Brugada syndrome patients. 16
An overview of current microarray-based human globin gene mutation detection methods 16
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3) 16
Premature cardiac senescence in patients with lamin A/C mutations: at least 5 years gap from electrical to mechanical dysfunction 16
Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration 16
Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study 16
Assessment of human herpesvirus-6 infection in mesenchymal stromal cells ex vivo expanded for clinical use 16
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 15
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no hematological or neurological symptoms 15
Co-segregation of LMNA and PMP22 gene mutations in the same family. 15
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 15
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 15
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 15
Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72 15
Lateral approach for sinus floor elevation: large versus small bone window – a split-mouth randomized clinical trial 15
Genetic Heterogenity in Italian Families with Familial Hemiplegic Migraine 14
Evaluation of a panel of circulating DNA, RNA and protein potential markers for pathologies of pregnancy 14
Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia 14
Predictive biomarkers of pre-eclampsia and effectiveness of preventative interventions for the disease 14
Genetic factors predisposing to bronchopulmonary dysplasia. A pilot study by exome sequencing and pathways analysis 14
A new microarray substrate for ultra-sensitive genotyping of KRAS and BRAF gene variants in colorectal cancer. 14
Advancing the education in molecular diagnostics: The IFCC-Initiative "Clinical Molecular Biology Curriculum" (C-CMBC); A ten-year experience 14
Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene 14
Structural and functional brain signatures of C9orf72 in motor neuron disease 14
P3170Innovative approach for risk stratification of LMNA-related cardiomyopathy: results from an integrated cardiological and neurological 10-year follow-up multicentre study 14
Analysis of clinically relevant single nucleotide polymorphisms by use of microelectronic array technology 14
Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene 14
MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer 14
Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients 14
COLD-PCR and microarray: Two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma 14
Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade? 14
Genetic and clinical heterogeneity of ferroportin disease 13
Genetic predisposing factors to bronchopulmonary dysplasia: preliminary data from a multicentre study 13
CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology 13
Lack of association of DMB polymorphism with insulin-dependent diabetes 13
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories 13
Loss of Mismatched HLA as a Mechanism of Leukemia Immune Escape in Family Haploidentical and Unrelated HSCT: Analysis of 103 Transplants From Alternative Donors 13
SCN5A nonsense mutation and NF1 frameshift mutation in a family with brugada syndrome and neurofibromatosis 13
Organization and regional distribution of centers for the management of children and adolescents with diabetes in Italy 13
Early visual function impairment in CADASIL 12
Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage 12
Null ABCA3 in humans: Large homozygous ABCA3 deletion, correlation to clinical-pathological findings 12
Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations. 12
DNA microarray-based solid-phase PCR on copoly (DMA-NAS-MAPS) silicon coated slides: An example of relevant clinical application 12
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation 12
Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities 12
Impaired testicular signaling of vitamin A and vitamin K contributes to the aberrant composition of the extracellular matrix in idiopathic germ cell aplasia 12
Insulin pump failures in Italian children with Type 1 diabetes: retrospective 1-year cohort study 12
Denaturing HPLC Analysis of DNA Deletions and Insertions 11
Cytogenic potential of CD133+ progenitor cells of human polycystic kidneys. 11
Comparison of clinical-radiological and molecular findings in hypochondroplasia 11
Genetics can contribute to the prognosis of the Brugada syndrome: a pilot model for risk stratification. 11
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 11
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of ß-thalassemia 11
Validation of Double Gradient Denaturing Gradient Gel Electrophoresis through Multigenic Retrospective Analysis 11
Fetal diagnosis of beta-thalassaemia by DNA analysis in Italy 11
HLA-DQ screening for risk assessment of insulin-dependent diabetes in Northern Italy 11
From chance to choice: The use of a verbal analogy in the communication of risk. 11
New molecular approaches to Alzheimer's disease 11
New-onset atrial fibrillation as first clinical manifestation of latent Brugada syndrome: Prevalence and clinical significance 11
Using Comparison Scenarios to Improve Prenatal Risk Communication 10
Totale 1.699
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Categoria #
all - tutte 44.587
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 44.587
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20206 0 0 0 0 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
2024/2025519 307 31 32 71 78 0 0 0 0 0 0 0
Totale 2.322