IRIS
FRISSO, GIULIA
 Distribuzione geografica
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Continente #
EU - Europa 3.051
NA - Nord America 2.125
AS - Asia 398
AF - Africa 30
SA - Sud America 9
OC - Oceania 8
Totale 5.621
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Nazione #
IT - Italia 2.280
US - Stati Uniti d'America 2.089
NL - Olanda 245
CN - Cina 228
VN - Vietnam 112
UA - Ucraina 103
IE - Irlanda 86
FI - Finlandia 85
DE - Germania 70
GB - Regno Unito 44
FR - Francia 37
IN - India 35
CA - Canada 34
SE - Svezia 34
CI - Costa d'Avorio 30
PL - Polonia 18
BE - Belgio 11
SG - Singapore 9
AU - Australia 8
RO - Romania 8
AR - Argentina 6
CH - Svizzera 6
IR - Iran 5
NO - Norvegia 4
PT - Portogallo 4
ES - Italia 3
BR - Brasile 2
CZ - Repubblica Ceca 2
GR - Grecia 2
HK - Hong Kong 2
IL - Israele 2
JP - Giappone 2
LV - Lettonia 2
RU - Federazione Russa 2
AL - Albania 1
BY - Bielorussia 1
CL - Cile 1
CY - Cipro 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
KZ - Kazakistan 1
PA - Panama 1
PK - Pakistan 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 5.621
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Città #
Chandler 406
Amsterdam 236
Naples 179
Rome 149
Ashburn 119
Millbury 118
Dong Ket 112
Napoli 105
Milan 92
Princeton 81
Jacksonville 80
Boston 70
Beijing 67
Des Moines 62
Wilmington 57
Nanjing 54
Lawrence 46
Bologna 33
Ottawa 30
Florence 29
Palermo 27
Nanchang 23
Catania 21
Falls Church 20
Turin 20
Augusta 19
Houston 18
Oristano 18
Redwood City 18
Woodbridge 18
Shenyang 17
Bari 15
Hebei 14
Kronberg 14
Mumbai 14
Boardman 13
Jiaxing 12
Norwalk 12
Dublin 11
Padova 11
Fairfield 10
San Mateo 10
Trento 10
Washington 10
Ann Arbor 8
Bolzano 8
Caserta 8
Alcamo 7
Baltimore 7
Boscotrecase 7
Chennai 7
Council Bluffs 7
Custonaci 7
Kunming 7
Lappeenranta 7
Modena 7
Salerno 7
Seattle 7
Casoria 6
Castellammare Di Stabia 6
Dearborn 6
Eboli 6
Ercolano 6
Genoa 6
Manduria 6
Monmouth Junction 6
Mountain View 6
New York 6
Quarto 6
Siena 6
Tianjin 6
Bergamo 5
Brescia 5
Capua 5
Chieti 5
Formia 5
Guangzhou 5
Guidonia Montecelio 5
Hangzhou 5
Hanover 5
Indiana 5
Lissone 5
Marano Di Napoli 5
Monza 5
Nocera Superiore 5
Parma 5
Pesaro 5
Sesto San Giovanni 5
Torino 5
Torre del Greco 5
Treviso 5
Verona 5
Aversa 4
Cagliari 4
Campi Bisenzio 4
Changsha 4
Corbara 4
Garbagnate Milanese 4
Leawood 4
Legnano 4
Totale 2.816
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Nome #
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.044
Screening delle mutazioni del gene MYH7 in una popolazione pediatrica affetta da cardiomiopatia ipertrofica 826
Mutation screening of dynein genes in patients affected by primary ciliary diskinesia or Kartagener syndrome 132
The Biological Role of Vitamins in Athletes’ Muscle, Heart and Microbiota 72
Cardiac ion channel genes analysis in LQTS or Brugada families of Southern Italy revealed nineteen mutations, including nine novel ones 63
Laboratory medicine: health evaluation in elite athletes 63
Association of H558R Polymorphism In SCN5A Gene With Familial Dilated Cardiomyopathy 60
Mitochondrial M.T4216C (P.Y304h) and M.A4917G, (P.N150D) variations In a young patient with Maternally Inherited Diabetes and Deafness 56
A child cohort study from South Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy 54
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 53
Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity 52
HNP-1 and HBD-1 as biomarkers for the immune systems of elite basketball athletes 51
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 50
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature 50
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 46
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 46
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 46
Analisi molecolare di geni di malattie ereditarie: dalla diagnosi anche prenatale alla struttura proteica 45
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 45
Hypermethioninemia in Campania: Results from 10 years of newborn screening 45
Athlete's Passport: Prevention of Infections, Inflammations, Injuries and Cardiovascular Diseases 45
Exercise, immune system, nutrition, respiratory and cardiovascular diseases during COVID-19: A complex combination 44
A 15-year molecular analysis of Duchenne/Becker muscular dystrophy: genetic features in a large cohort 43
Digenic heterozygosity in KCNQ1 and KCNH2 genes causes severe long QT phenotype 43
Contemporary genetic testing in inherited cardiac disease: Tools, ethical issues, and clinical applications 42
Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy. 41
Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity 41
Correlation between phenotype and CTG repeats in myotonic dystrophy patients from southern Italy. 41
Episodi ricorrenti d rabdomiolisi secondari a difetto della beta-ossidazione degli acidi grassi. 41
Molecular diagnosis of Brugada syndrome via next-generation sequencing of a multigene panel in a young athlete 41
A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females 40
Mutation screening in sarcomeric genes in Italian HCM paediatric population 40
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. 39
Molecular analysis has allowed the definitive diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) 39
Mild dehydration in dyspeptic athletes is able to increase gastrointestinal symptoms: Protective effects of an appropriate hydration 39
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. 38
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches 38
Characterization of cholesterol biosynthesis defects: a new case of sterol-C4-methyl oxidase deficiency in Italy 38
A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy 38
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies 37
A real benefit of an extended neonatal screening 37
A Quantitative Polymerase Chain Reaction (PCR) Assay Completely Discriminates between Duchenne and Becker Muscular Dystrophy Deletion Carriers and Normal Females. 36
Childhood obesity: an overview of laboratory medicine, exercise and microbiome 36
Yield and clinical significance of genetic screening in elite and amateur athletes 36
Biochemical and genetic characterization of a cholesterol biosynthesis defect: a new case of sterol-C4-methyl oxidase defect in a young Italian male 35
Methicillin-Resistant Staphylococcus aureus: Risk for General Infection and Endocarditis Among Athletes 35
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 35
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 35
A common polymorphism in SCN5A gene is associated with dilated cardiomyopathy 34
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency 34
Polymorphism p.402Y>H in the complememt factor H protein is a risk factor for age related macular degeneration in an Italian population. 33
A new case of Congenital Hyperinsulinemic Hypoglycemia due to M/SCHAD deficiency: the contribution of metabolic and molecular diagnosis for the management 33
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization 33
DNA sequence capture and high-throughput sequencing technology: a novel approach to identify a large number of hypertrophic cardiomyopathy-causing genes 32
The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology 32
Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy 32
Genetic Pre-Participation Screening in Selected Athletes: How can help for the Prevention of Sudden Cardiac Death? 32
Dietary thiols: A potential supporting strategy against oxidative stress in heart failure and muscular damage during sports activity 32
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 31
The CEINGE Biobank of biological samples: storage and management 31
The novel hh1 n1472del mutation in a long QT patient shows mixed biophysical properties 31
Allelic Complexity in Long QT Syndrome: A Family-Case Study 31
Urinary biomarkers: Diagnostic tools for monitoring athletes’ health status 31
Genotype-phenotype correlation: A triple DNA mutational event in a boy entering sport conveys an additional pathogenicity risk 29
The hidden fragility in the heart of the athletes: A review of genetic biomarkers 29
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from southern Italy. 28
Cardiac ion channel genes analysis in LQTS families of southern Italy revealed eight mutations, including three novel ones 28
Cardiomyopathies & Heart failure 2008. When and who: genetic testing” 28
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 28
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome 28
Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination 28
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 27
Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder. 27
Interpretation of Non-Coding Variants In Inherited Cardiomyopathies Associated To Sudden Death 27
Novel deletion at promoters M and P of the human dystrophin gene linked to an atypical phenotype 26
Dystrophinopathy in a young boy with Klinefelter’s syndrome. 26
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 26
Cardiac organoids towards iPSC exploitation for a novel personalized medicine approach to arrhythmogenic Cardiomyopathy 25
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 24
Novel mutations and structural implications in R-type pyruvate chinase-deficient patients from Southern Italy 24
Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy 24
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 24
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 24
A Child cohort study from South Italy enlarges the genetic spectrum of Hypertrophic cardiomyopathy. 23
DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies 23
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 23
Pattern of dystrophin gene macrodeletions in Duchenne and Becker muscular dystrophy patients form southern Italy. 22
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy 22
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 22
Genetic pre-participation screening in selected athletes: a new tool for the prevention of sudden cardiac death? 21
Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors 21
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 20
Molecular Analysis of Pyruvate Kinase Deficiency in Southern Italian Patients. 20
DNA Sequence Capture and High Throughput Sequencing Technology: a Novel Approach to Identify a Large Number of Hypertrophic Cardiomyopathy-causing Genes 20
Mitochondrial mutation in adult patient with Hypertrophic Cardiomyopathy and renal failure 20
Mitochondrial Mutational Event In An Adult Patient With Renal Failure And Cardiomyopathy 20
Sudden cardiac death in young athletes: Literature review of molecular basis 20
Impact of physical activity on cognitive functions: A new field for research and management of cystic fibrosis 20
Ruolo dell'analisi genetica in cardiologia: le cardiomiopatie 19
Rapid detection of short tandem repeat (STRs) alleles for linkage analysis and for localization of intragenic recombination in the dystrophin gene. 19
Totale 5.359
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Categoria #
all - tutte 17.230
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 17.230
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201941 0 0 0 0 0 0 0 0 0 13 10 18
2019/2020513 126 10 24 12 37 15 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
2023/20241.221 105 156 215 146 108 116 79 113 71 112 0 0
Totale 5.896