IRIS
FRISSO, GIULIA
 Distribuzione geografica
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Continente #
EU - Europa 7.352
AS - Asia 6.237
NA - Nord America 5.955
SA - Sud America 775
AF - Africa 139
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 3
Totale 20.476
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Nazione #
US - Stati Uniti d'America 5.715
IT - Italia 3.814
SG - Singapore 2.640
RU - Federazione Russa 1.788
CN - Cina 1.200
VN - Vietnam 1.176
BR - Brasile 632
HK - Hong Kong 476
NL - Olanda 389
FR - Francia 262
DE - Germania 254
GB - Regno Unito 149
FI - Finlandia 139
JP - Giappone 132
UA - Ucraina 130
CA - Canada 125
IN - India 123
BD - Bangladesh 122
IE - Irlanda 94
SE - Svezia 67
MX - Messico 63
PL - Polonia 63
AR - Argentina 54
KR - Corea 53
ES - Italia 45
ZA - Sudafrica 45
TH - Thailandia 35
AT - Austria 34
PH - Filippine 34
CI - Costa d'Avorio 33
IQ - Iraq 33
ID - Indonesia 32
TR - Turchia 28
EC - Ecuador 27
BE - Belgio 26
AE - Emirati Arabi Uniti 18
CH - Svizzera 18
TW - Taiwan 18
CO - Colombia 17
PK - Pakistan 17
LT - Lituania 16
AU - Australia 14
JM - Giamaica 14
VE - Venezuela 14
MA - Marocco 13
IL - Israele 11
PT - Portogallo 11
SA - Arabia Saudita 11
CL - Cile 10
EG - Egitto 10
MY - Malesia 9
RO - Romania 9
LB - Libano 8
UY - Uruguay 8
UZ - Uzbekistan 8
ET - Etiopia 7
KZ - Kazakistan 7
TN - Tunisia 7
AZ - Azerbaigian 6
CR - Costa Rica 6
GE - Georgia 6
JO - Giordania 6
GR - Grecia 5
GT - Guatemala 5
IR - Iran 5
PE - Perù 5
DZ - Algeria 4
HN - Honduras 4
LV - Lettonia 4
NO - Norvegia 4
NP - Nepal 4
OM - Oman 4
AL - Albania 3
BF - Burkina Faso 3
BG - Bulgaria 3
BY - Bielorussia 3
CZ - Repubblica Ceca 3
DK - Danimarca 3
DM - Dominica 3
DO - Repubblica Dominicana 3
HU - Ungheria 3
KG - Kirghizistan 3
LC - Santa Lucia 3
PA - Panama 3
PY - Paraguay 3
RS - Serbia 3
BA - Bosnia-Erzegovina 2
BB - Barbados 2
BH - Bahrain 2
BO - Bolivia 2
BW - Botswana 2
CW - ???statistics.table.value.countryCode.CW??? 2
CY - Cipro 2
GN - Guinea 2
GY - Guiana 2
HR - Croazia 2
HT - Haiti 2
KE - Kenya 2
KW - Kuwait 2
NI - Nicaragua 2
Totale 20.445
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Città #
Singapore 1.260
San Jose 894
Ashburn 518
Hong Kong 456
Moscow 424
Naples 416
Chandler 406
Beijing 392
Ho Chi Minh City 294
Hanoi 279
Rome 270
Amsterdam 253
Santa Clara 243
Milan 241
Hefei 214
Los Angeles 191
Lauterbourg 131
The Dalles 131
Millbury 118
Council Bluffs 114
Dong Ket 112
Tokyo 108
Dallas 106
Napoli 105
New York 103
Boston 85
Jacksonville 82
Princeton 82
Palermo 66
Buffalo 64
Des Moines 63
São Paulo 62
Wilmington 58
Bologna 57
Da Nang 56
Nanjing 55
Redondo Beach 54
Florence 53
Lawrence 46
Munich 45
Seoul 41
Chicago 40
Houston 40
Orem 40
Turin 40
Denver 37
Frankfurt am Main 36
Brooklyn 35
Warsaw 35
Catania 34
Haiphong 34
Ottawa 33
Seattle 33
Montreal 31
Nuremberg 31
Stockholm 30
Bari 28
Mexico City 25
Mumbai 25
Atlanta 24
Augusta 24
London 24
Manchester 24
Nanchang 24
Phoenix 24
San Francisco 24
Johannesburg 23
Helsinki 22
Toronto 22
Chennai 21
Lappeenranta 21
Falls Church 20
Padova 20
Boardman 19
Shenyang 19
Biên Hòa 18
Dublin 18
Oristano 18
Poplar 18
Redwood City 18
Rio de Janeiro 18
Woodbridge 18
Ankara 17
Cagliari 17
Turku 17
Ann Arbor 16
Monza 16
Vienna 16
Belo Horizonte 14
Can Tho 14
Hebei 14
Kronberg 14
Perugia 14
Washington 14
Baltimore 13
Genoa 13
Jiaxing 13
Pescara 13
Bolzano 12
Brasília 12
Totale 10.095
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Nome #
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.649
Screening delle mutazioni del gene MYH7 in una popolazione pediatrica affetta da cardiomiopatia ipertrofica 1.633
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature 227
The Biological Role of Vitamins in Athletes’ Muscle, Heart and Microbiota 224
Mutation screening of dynein genes in patients affected by primary ciliary diskinesia or Kartagener syndrome 214
HNP-1 and HBD-1 as biomarkers for the immune systems of elite basketball athletes 181
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 177
A child cohort study from South Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy 173
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center 171
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies 168
Exercise, immune system, nutrition, respiratory and cardiovascular diseases during COVID-19: A complex combination 168
Laboratory medicine: health evaluation in elite athletes 166
Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity 161
Athlete's Passport: Prevention of Infections, Inflammations, Injuries and Cardiovascular Diseases 161
Hypermethioninemia in Campania: Results from 10 years of newborn screening 159
Urinary biomarkers: Diagnostic tools for monitoring athletes’ health status 158
How Does Physical Activity Modulate Hormone Responses? 156
Yield and clinical significance of genetic screening in elite and amateur athletes 156
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 155
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 155
Mild dehydration in dyspeptic athletes is able to increase gastrointestinal symptoms: Protective effects of an appropriate hydration 154
Genotype-phenotype correlation: A triple DNA mutational event in a boy entering sport conveys an additional pathogenicity risk 154
Evaluation of Antioxidant Defence Systems and Inflammatory Status in Basketball Elite Athletes 153
Cardiac ion channel genes analysis in LQTS or Brugada families of Southern Italy revealed nineteen mutations, including nine novel ones 153
Thrombosis and Thrombotic Risk in Athletes 151
Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers 150
Diagnostic and Therapeutic Potential for HNP-1, HBD-1 and HBD-4 in Pregnant Women with COVID-19 149
Digenic heterozygosity in KCNQ1 and KCNH2 genes causes severe long QT phenotype 148
A real benefit of an extended neonatal screening 147
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 146
Mutation screening in sarcomeric genes in Italian HCM paediatric population 146
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization 146
DNA Sequence Capture and High Throughput Sequencing Technology: a Novel Approach to Identify a Large Number of Hypertrophic Cardiomyopathy-causing Genes 144
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 144
DNA sequence capture and high-throughput sequencing technology: a novel approach to identify a large number of hypertrophic cardiomyopathy-causing genes 140
Dietary thiols: A potential supporting strategy against oxidative stress in heart failure and muscular damage during sports activity 140
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 140
The Impact of Physical Exercise on Obesity in a Cohort of Southern Italian Obese Children: Improvement in Cardiovascular Risk and Immune System Biomarkers 138
Molecular analysis has allowed the definitive diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) 138
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from southern Italy. 137
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches 137
Rapid detection of short tandem repeat (STRs) alleles for linkage analysis and for localization of intragenic recombination in the dystrophin gene. 136
Methicillin-Resistant Staphylococcus aureus: Risk for General Infection and Endocarditis Among Athletes 136
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. 135
Episodi ricorrenti d rabdomiolisi secondari a difetto della beta-ossidazione degli acidi grassi. 135
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome 135
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project 134
Sarcomeric versus Non-Sarcomeric HCM 134
Characterization of cholesterol biosynthesis defects: a new case of sterol-C4-methyl oxidase deficiency in Italy 132
Molecular diagnosis of Brugada syndrome via next-generation sequencing of a multigene panel in a young athlete 132
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 131
Analisi molecolare di geni di malattie ereditarie: dalla diagnosi anche prenatale alla struttura proteica 130
Correlation between phenotype and CTG repeats in myotonic dystrophy patients from southern Italy. 129
DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies 129
Biochemical and genetic characterization of a cholesterol biosynthesis defect: a new case of sterol-C4-methyl oxidase defect in a young Italian male 129
Childhood obesity: an overview of laboratory medicine, exercise and microbiome 129
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 126
A new case of Congenital Hyperinsulinemic Hypoglycemia due to M/SCHAD deficiency: the contribution of metabolic and molecular diagnosis for the management 124
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 123
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 121
Preliminary study on the role of human defensins, interleukins and PCSK9 in early and late preeclampsia 121
Association of H558R Polymorphism In SCN5A Gene With Familial Dilated Cardiomyopathy 119
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency 119
Pattern of dystrophin gene macrodeletions in Duchenne and Becker muscular dystrophy patients form southern Italy. 118
Mitochondrial M.T4216C (P.Y304h) and M.A4917G, (P.N150D) variations In a young patient with Maternally Inherited Diabetes and Deafness 118
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method 117
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 117
Impact of molecular diagnostics in an asymptomatic amateur athlete found to be affected by hypertrophic cardiomyopathy 117
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 117
Desmosomes in heart and skin: friends or foes? 116
Integrated Approach to Highlighting the Molecular Bases of a Deep Vein Thrombosis Event in an Elite Basketball Athlete 116
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 116
Genetic Pre-Participation Screening in Selected Athletes: A New Tool for the Prevention of Sudden Cardiac Death? 115
The novel hh1 n1472del mutation in a long QT patient shows mixed biophysical properties 114
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 114
Multidisciplinary in-depth investigation in a young athlete suffering from syncope caused by myocardial bridge 114
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes 113
A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females 113
The CEINGE Biobank of biological samples: storage and management 113
An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test 112
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 112
Cardiac ion channel genes analysis in LQTS families of southern Italy revealed eight mutations, including three novel ones 111
Mitochondrial mutation in adult patient with Hypertrophic Cardiomyopathy and renal failure 110
Effects of the covid-19 pandemic on job activity, dietary behaviours and physical activity habits of university population of Naples, federico ii-Italy 110
Cardiac organoids towards iPSC exploitation for a novel personalized medicine approach to arrhythmogenic Cardiomyopathy 106
Characterization of Hypertrophic Cardiomyopathy Caused by Mutations in Four and a Half Lim Domains 1 Gene 106
Vitamine in "Nutrizione Umana" 106
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 104
Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy. 104
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 104
A common polymorphism in SCN5A gene is associated with dilated cardiomyopathy 102
Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors 102
The hidden fragility in the heart of the athletes: A review of genetic biomarkers 101
Cardiomyopathies & Heart failure 2008. When and who: genetic testing” 100
Genetic Pre-Participation Screening in Selected Athletes: How can help for the Prevention of Sudden Cardiac Death? 99
Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations 98
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. 98
Ruolo dell'analisi genetica in cardiologia: le cardiomiopatie 98
Prenatal diagnosis of inherited diseases: 20 years? experience of an Italian Regional Reference Centre 98
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy 97
Totale 16.332
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Categoria #
all - tutte 57.610
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 57.610
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2023/20241.548 105 156 215 146 108 116 79 113 71 139 175 125
2024/20255.018 266 314 107 108 206 312 537 324 427 511 1.507 399
2025/20269.455 927 730 974 1.029 1.565 373 1.010 537 1.056 682 306 266
2026/2027114 114 0 0 0 0 0 0 0 0 0 0 0
Totale 20.810