IRIS
FRISSO, GIULIA
 Distribuzione geografica
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Continente #
EU - Europa 3.783
NA - Nord America 2.580
AS - Asia 1.201
AF - Africa 31
SA - Sud America 17
OC - Oceania 13
Totale 7.625
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Nazione #
IT - Italia 2.895
US - Stati Uniti d'America 2.543
SG - Singapore 478
NL - Olanda 288
HK - Hong Kong 276
CN - Cina 274
VN - Vietnam 113
UA - Ucraina 105
FI - Finlandia 93
IE - Irlanda 89
DE - Germania 81
GB - Regno Unito 53
FR - Francia 44
IN - India 38
CA - Canada 35
SE - Svezia 34
CI - Costa d'Avorio 30
RU - Federazione Russa 24
PL - Polonia 18
BE - Belgio 14
AU - Australia 13
CH - Svizzera 10
AR - Argentina 8
RO - Romania 8
IR - Iran 5
PT - Portogallo 5
BR - Brasile 4
JP - Giappone 4
LV - Lettonia 4
NO - Norvegia 4
CZ - Repubblica Ceca 3
ES - Italia 3
CL - Cile 2
EC - Ecuador 2
GR - Grecia 2
IL - Israele 2
PH - Filippine 2
TW - Taiwan 2
AL - Albania 1
AT - Austria 1
BY - Bielorussia 1
CO - Colombia 1
CY - Cipro 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
KG - Kirghizistan 1
KZ - Kazakistan 1
MA - Marocco 1
MY - Malesia 1
PA - Panama 1
PK - Pakistan 1
SA - Arabia Saudita 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
Totale 7.625
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Città #
Chandler 406
Singapore 399
Hong Kong 276
Naples 259
Amsterdam 236
Santa Clara 211
Rome 200
Milan 159
Ashburn 130
Millbury 118
Dong Ket 112
Napoli 105
Princeton 81
Jacksonville 80
Boston 70
Beijing 67
Des Moines 62
Wilmington 57
Nanjing 55
Bologna 50
Lawrence 46
Palermo 45
Florence 36
Turin 33
Ottawa 31
Catania 25
Nanchang 23
Falls Church 20
Seattle 20
Augusta 19
Houston 18
Oristano 18
Redwood City 18
Woodbridge 18
Padova 17
Shenyang 17
Bari 16
Boardman 16
Cagliari 14
Dublin 14
Hebei 14
Kronberg 14
Mumbai 14
Jiaxing 12
Norwalk 12
Genoa 11
Los Angeles 11
Fairfield 10
San Mateo 10
Trento 10
Washington 10
Baltimore 9
Brescia 9
Caserta 9
Helsinki 9
Modena 9
Pescara 9
Venice 9
Ann Arbor 8
Bolzano 8
Casoria 8
Council Bluffs 8
Formia 8
Kunming 8
Lappeenranta 8
London 8
Alcamo 7
Boscotrecase 7
Chennai 7
Custonaci 7
Guangzhou 7
Moscow 7
New York 7
Salerno 7
Verona 7
Castellammare Di Stabia 6
Dearborn 6
Eboli 6
Ercolano 6
Leuven 6
Manduria 6
Melito di Napoli 6
Monmouth Junction 6
Mountain View 6
Quarto 6
Siena 6
Tianjin 6
Torre del Greco 6
Bergamo 5
Capua 5
Chieti 5
Guidonia Montecelio 5
Hangzhou 5
Hanover 5
Indiana 5
Lissone 5
Marano Di Napoli 5
Monza 5
Mugnano di Napoli 5
Nocera Superiore 5
Totale 4.053
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Nome #
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.310
Screening delle mutazioni del gene MYH7 in una popolazione pediatrica affetta da cardiomiopatia ipertrofica 1.154
Mutation screening of dynein genes in patients affected by primary ciliary diskinesia or Kartagener syndrome 141
The Biological Role of Vitamins in Athletes’ Muscle, Heart and Microbiota 94
Laboratory medicine: health evaluation in elite athletes 80
Cardiac ion channel genes analysis in LQTS or Brugada families of Southern Italy revealed nineteen mutations, including nine novel ones 73
Association of H558R Polymorphism In SCN5A Gene With Familial Dilated Cardiomyopathy 72
A child cohort study from South Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy 67
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 65
Mitochondrial M.T4216C (P.Y304h) and M.A4917G, (P.N150D) variations In a young patient with Maternally Inherited Diabetes and Deafness 64
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature 63
Athlete's Passport: Prevention of Infections, Inflammations, Injuries and Cardiovascular Diseases 62
HNP-1 and HBD-1 as biomarkers for the immune systems of elite basketball athletes 60
Episodi ricorrenti d rabdomiolisi secondari a difetto della beta-ossidazione degli acidi grassi. 59
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 59
Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity 59
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 58
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 57
Digenic heterozygosity in KCNQ1 and KCNH2 genes causes severe long QT phenotype 56
Exercise, immune system, nutrition, respiratory and cardiovascular diseases during COVID-19: A complex combination 56
Analisi molecolare di geni di malattie ereditarie: dalla diagnosi anche prenatale alla struttura proteica 55
Alterazioni della forma R del gene della piruvato chinasi: presenza di una nuova mutazione (G 1523) e bassa frequenza della A 1529 in un campione dell'Italia meridionale 55
Hypermethioninemia in Campania: Results from 10 years of newborn screening 54
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies 53
Mutation screening in sarcomeric genes in Italian HCM paediatric population 52
Contemporary genetic testing in inherited cardiac disease: Tools, ethical issues, and clinical applications 51
Mild dehydration in dyspeptic athletes is able to increase gastrointestinal symptoms: Protective effects of an appropriate hydration 51
A real benefit of an extended neonatal screening 51
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 50
Molecular diagnosis of Brugada syndrome via next-generation sequencing of a multigene panel in a young athlete 50
Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity 49
Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy. 48
A 15-year molecular analysis of Duchenne/Becker muscular dystrophy: genetic features in a large cohort 48
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches 48
Characterization of cholesterol biosynthesis defects: a new case of sterol-C4-methyl oxidase deficiency in Italy 48
Molecular analysis has allowed the definitive diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) 48
A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females 47
A larger spectrum of intragenic STRs improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from Southern Italy. J. Mol. Diagn. 47
Correlation between phenotype and CTG repeats in myotonic dystrophy patients from southern Italy. 47
Urinary biomarkers: Diagnostic tools for monitoring athletes’ health status 47
Analysis of macrodeletions in the dystrophin gene in patients from southern Italy and correlation between genotype and phenotype. The presence/absence of the III hinge region of the dystrophin protein affects the phenotype. 45
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization 45
Methicillin-Resistant Staphylococcus aureus: Risk for General Infection and Endocarditis Among Athletes 45
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency 44
Childhood obesity: an overview of laboratory medicine, exercise and microbiome 44
Yield and clinical significance of genetic screening in elite and amateur athletes 44
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 44
A common polymorphism in SCN5A gene is associated with dilated cardiomyopathy 43
Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy 43
A new case of Congenital Hyperinsulinemic Hypoglycemia due to M/SCHAD deficiency: the contribution of metabolic and molecular diagnosis for the management 43
A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy 43
A Quantitative Polymerase Chain Reaction (PCR) Assay Completely Discriminates between Duchenne and Becker Muscular Dystrophy Deletion Carriers and Normal Females. 42
The novel hh1 n1472del mutation in a long QT patient shows mixed biophysical properties 42
DNA sequence capture and high-throughput sequencing technology: a novel approach to identify a large number of hypertrophic cardiomyopathy-causing genes 42
Biochemical and genetic characterization of a cholesterol biosynthesis defect: a new case of sterol-C4-methyl oxidase defect in a young Italian male 42
Dietary thiols: A potential supporting strategy against oxidative stress in heart failure and muscular damage during sports activity 41
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 41
The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology 40
Genetic Pre-Participation Screening in Selected Athletes: How can help for the Prevention of Sudden Cardiac Death? 40
Interpretation of Non-Coding Variants In Inherited Cardiomyopathies Associated To Sudden Death 40
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome 40
The hidden fragility in the heart of the athletes: A review of genetic biomarkers 40
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from southern Italy. 39
The CEINGE Biobank of biological samples: storage and management 39
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 39
Genotype-phenotype correlation: A triple DNA mutational event in a boy entering sport conveys an additional pathogenicity risk 39
Polymorphism p.402Y>H in the complememt factor H protein is a risk factor for age related macular degeneration in an Italian population. 38
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 38
Allelic Complexity in Long QT Syndrome: A Family-Case Study 38
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 38
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 37
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 37
Cardiac organoids towards iPSC exploitation for a novel personalized medicine approach to arrhythmogenic Cardiomyopathy 35
The Impact of Physical Exercise on Obesity in a Cohort of Southern Italian Obese Children: Improvement in Cardiovascular Risk and Immune System Biomarkers 35
Cardiac ion channel genes analysis in LQTS families of southern Italy revealed eight mutations, including three novel ones 35
Cardiomyopathies & Heart failure 2008. When and who: genetic testing” 35
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 35
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy 35
Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination 35
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 34
Dystrophinopathy in a young boy with Klinefelter’s syndrome. 34
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 33
Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy 32
Mitochondrial Mutational Event In An Adult Patient With Renal Failure And Cardiomyopathy 32
Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder. 32
Impact of molecular diagnostics in an asymptomatic amateur athlete found to be affected by hypertrophic cardiomyopathy 32
Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors 32
Impact of physical activity on cognitive functions: A new field for research and management of cystic fibrosis 32
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 32
Mitochondrial mutation in adult patient with Hypertrophic Cardiomyopathy and renal failure 31
DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies 31
Novel mutations and structural implications in R-type pyruvate chinase-deficient patients from Southern Italy 30
Pattern of dystrophin gene macrodeletions in Duchenne and Becker muscular dystrophy patients form southern Italy. 30
Genetic Pre-Participation Screening in Selected Athletes: A New Tool for the Prevention of Sudden Cardiac Death? 30
Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C 30
Sudden cardiac death in young athletes: Literature review of molecular basis 30
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 30
Effects of the covid-19 pandemic on job activity, dietary behaviours and physical activity habits of university population of Naples, federico ii-Italy 30
Rapid detection of short tandem repeat (STRs) alleles for linkage analysis and for localization of intragenic recombination in the dystrophin gene. 29
DNA Sequence Capture and High Throughput Sequencing Technology: a Novel Approach to Identify a Large Number of Hypertrophic Cardiomyopathy-causing Genes 29
Totale 6.923
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Categoria #
all - tutte 27.855
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 27.855
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020289 0 0 0 0 0 0 19 19 13 59 75 104
2020/2021766 33 30 70 59 47 74 65 24 66 28 116 154
2021/20221.060 50 24 38 51 41 41 28 54 116 82 225 310
2022/20231.569 141 116 48 94 162 123 45 178 217 276 116 53
2023/20241.549 105 156 215 146 108 116 79 113 71 139 175 126
2024/20251.717 267 314 107 109 209 313 398 0 0 0 0 0
Totale 7.941