IRIS
FRISSO, GIULIA
 Distribuzione geografica
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Continente #
EU - Europa 7.439
NA - Nord America 6.590
AS - Asia 6.282
SA - Sud America 785
Continente sconosciuto - Info sul continente non disponibili 341
AF - Africa 141
OC - Oceania 15
Totale 21.593
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Nazione #
US - Stati Uniti d'America 6.313
IT - Italia 3.896
SG - Singapore 2.643
RU - Federazione Russa 1.788
CN - Cina 1.210
VN - Vietnam 1.176
BR - Brasile 637
HK - Hong Kong 480
NL - Olanda 389
FR - Francia 263
DE - Germania 254
GB - Regno Unito 151
CA - Canada 148
FI - Finlandia 139
JP - Giappone 137
BD - Bangladesh 131
UA - Ucraina 130
IN - India 126
IE - Irlanda 94
SE - Svezia 67
MX - Messico 63
PL - Polonia 63
AR - Argentina 55
KR - Corea 53
ES - Italia 47
ZA - Sudafrica 45
TH - Thailandia 37
ID - Indonesia 36
PH - Filippine 36
AT - Austria 34
CI - Costa d'Avorio 33
IQ - Iraq 33
TR - Turchia 28
EC - Ecuador 27
BE - Belgio 26
AE - Emirati Arabi Uniti 18
CH - Svizzera 18
CO - Colombia 18
TW - Taiwan 18
PK - Pakistan 17
VE - Venezuela 17
LT - Lituania 16
JM - Giamaica 15
AU - Australia 14
MA - Marocco 13
IL - Israele 11
PT - Portogallo 11
SA - Arabia Saudita 11
CL - Cile 10
EG - Egitto 10
GT - Guatemala 9
MY - Malesia 9
RO - Romania 9
CR - Costa Rica 8
LB - Libano 8
UY - Uruguay 8
UZ - Uzbekistan 8
ET - Etiopia 7
GE - Georgia 7
KZ - Kazakistan 7
TN - Tunisia 7
AZ - Azerbaigian 6
JO - Giordania 6
GR - Grecia 5
IR - Iran 5
PE - Perù 5
DZ - Algeria 4
HN - Honduras 4
LV - Lettonia 4
NI - Nicaragua 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
PR - Porto Rico 3
PY - Paraguay 3
RS - Serbia 3
TT - Trinidad e Tobago 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
Totale 21.217
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Città #
Singapore 1.260
San Jose 1.060
Ashburn 550
Hong Kong 459
Naples 427
Moscow 424
Chandler 406
Beijing 395
Ho Chi Minh City 294
Hanoi 279
Rome 277
Santa Clara 264
Amsterdam 253
Milan 246
Council Bluffs 238
Hefei 214
Los Angeles 195
Lauterbourg 131
The Dalles 131
Millbury 118
Tokyo 113
Dallas 112
Dong Ket 112
New York 107
Napoli 105
Boston 87
Princeton 84
Jacksonville 82
Palermo 68
Buffalo 65
São Paulo 65
Des Moines 64
Bologna 59
Phoenix 58
Wilmington 58
Da Nang 56
Florence 55
Nanjing 55
Redondo Beach 54
Lawrence 46
Munich 45
Houston 44
Orem 41
Seoul 41
Turin 41
Chicago 40
Denver 38
Brooklyn 37
Frankfurt am Main 36
Catania 35
Ottawa 35
Warsaw 35
Haiphong 34
Seattle 34
Montreal 32
Nuremberg 31
Stockholm 30
Bari 29
San Francisco 28
Mumbai 27
Toronto 26
Atlanta 25
London 25
Manchester 25
Mexico City 25
Augusta 24
Nanchang 24
Johannesburg 23
Helsinki 22
Chennai 21
Lappeenranta 21
Boardman 20
Falls Church 20
Padova 20
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
Genoa 14
Hebei 14
Kronberg 14
Perugia 14
Washington 14
Baltimore 13
Jiaxing 13
Pescara 13
Venice 13
Bangkok 12
Totale 10.566
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Nome #
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.685
Screening delle mutazioni del gene MYH7 in una popolazione pediatrica affetta da cardiomiopatia ipertrofica 1.646
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature 232
The Biological Role of Vitamins in Athletes’ Muscle, Heart and Microbiota 229
Mild dehydration in dyspeptic athletes is able to increase gastrointestinal symptoms: Protective effects of an appropriate hydration 228
Mutation screening of dynein genes in patients affected by primary ciliary diskinesia or Kartagener syndrome 216
Laboratory medicine: health evaluation in elite athletes 201
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center 190
HNP-1 and HBD-1 as biomarkers for the immune systems of elite basketball athletes 185
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 184
A child cohort study from South Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy 178
Exercise, immune system, nutrition, respiratory and cardiovascular diseases during COVID-19: A complex combination 173
How Does Physical Activity Modulate Hormone Responses? 170
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies 169
Athlete's Passport: Prevention of Infections, Inflammations, Injuries and Cardiovascular Diseases 166
Evaluation of Antioxidant Defence Systems and Inflammatory Status in Basketball Elite Athletes 165
Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity 164
Hypermethioninemia in Campania: Results from 10 years of newborn screening 164
Urinary biomarkers: Diagnostic tools for monitoring athletes’ health status 161
Yield and clinical significance of genetic screening in elite and amateur athletes 160
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 160
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 159
Cardiac ion channel genes analysis in LQTS or Brugada families of Southern Italy revealed nineteen mutations, including nine novel ones 158
Sarcomeric versus Non-Sarcomeric HCM 156
Thrombosis and Thrombotic Risk in Athletes 156
Digenic heterozygosity in KCNQ1 and KCNH2 genes causes severe long QT phenotype 156
Genotype-phenotype correlation: A triple DNA mutational event in a boy entering sport conveys an additional pathogenicity risk 156
Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers 155
Mutation screening in sarcomeric genes in Italian HCM paediatric population 155
Diagnostic and Therapeutic Potential for HNP-1, HBD-1 and HBD-4 in Pregnant Women with COVID-19 153
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 151
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization 151
DNA Sequence Capture and High Throughput Sequencing Technology: a Novel Approach to Identify a Large Number of Hypertrophic Cardiomyopathy-causing Genes 150
A real benefit of an extended neonatal screening 150
DNA sequence capture and high-throughput sequencing technology: a novel approach to identify a large number of hypertrophic cardiomyopathy-causing genes 147
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 147
Childhood obesity: an overview of laboratory medicine, exercise and microbiome 146
Dietary thiols: A potential supporting strategy against oxidative stress in heart failure and muscular damage during sports activity 145
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 145
The Impact of Physical Exercise on Obesity in a Cohort of Southern Italian Obese Children: Improvement in Cardiovascular Risk and Immune System Biomarkers 141
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches 141
Methicillin-Resistant Staphylococcus aureus: Risk for General Infection and Endocarditis Among Athletes 141
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project 140
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from southern Italy. 140
Rapid detection of short tandem repeat (STRs) alleles for linkage analysis and for localization of intragenic recombination in the dystrophin gene. 139
Molecular analysis has allowed the definitive diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) 139
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome 139
Episodi ricorrenti d rabdomiolisi secondari a difetto della beta-ossidazione degli acidi grassi. 138
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. 136
Molecular diagnosis of Brugada syndrome via next-generation sequencing of a multigene panel in a young athlete 136
DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies 135
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 135
Characterization of cholesterol biosynthesis defects: a new case of sterol-C4-methyl oxidase deficiency in Italy 134
Analisi molecolare di geni di malattie ereditarie: dalla diagnosi anche prenatale alla struttura proteica 133
Correlation between phenotype and CTG repeats in myotonic dystrophy patients from southern Italy. 131
Preliminary study on the role of human defensins, interleukins and PCSK9 in early and late preeclampsia 131
Biochemical and genetic characterization of a cholesterol biosynthesis defect: a new case of sterol-C4-methyl oxidase defect in a young Italian male 130
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 129
A new case of Congenital Hyperinsulinemic Hypoglycemia due to M/SCHAD deficiency: the contribution of metabolic and molecular diagnosis for the management 126
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 125
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 124
Impact of molecular diagnostics in an asymptomatic amateur athlete found to be affected by hypertrophic cardiomyopathy 122
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency 121
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 121
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method 120
Pattern of dystrophin gene macrodeletions in Duchenne and Becker muscular dystrophy patients form southern Italy. 120
Integrated Approach to Highlighting the Molecular Bases of a Deep Vein Thrombosis Event in an Elite Basketball Athlete 119
Association of H558R Polymorphism In SCN5A Gene With Familial Dilated Cardiomyopathy 119
Multidisciplinary in-depth investigation in a young athlete suffering from syncope caused by myocardial bridge 119
Desmosomes in heart and skin: friends or foes? 118
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 118
Mitochondrial M.T4216C (P.Y304h) and M.A4917G, (P.N150D) variations In a young patient with Maternally Inherited Diabetes and Deafness 118
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 118
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 118
The novel hh1 n1472del mutation in a long QT patient shows mixed biophysical properties 117
Genetic Pre-Participation Screening in Selected Athletes: A New Tool for the Prevention of Sudden Cardiac Death? 117
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 117
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes 116
The CEINGE Biobank of biological samples: storage and management 116
A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females 115
Effects of the covid-19 pandemic on job activity, dietary behaviours and physical activity habits of university population of Naples, federico ii-Italy 115
An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test 114
Cardiac ion channel genes analysis in LQTS families of southern Italy revealed eight mutations, including three novel ones 113
Mitochondrial mutation in adult patient with Hypertrophic Cardiomyopathy and renal failure 113
Cardiac organoids towards iPSC exploitation for a novel personalized medicine approach to arrhythmogenic Cardiomyopathy 111
Characterization of Hypertrophic Cardiomyopathy Caused by Mutations in Four and a Half Lim Domains 1 Gene 111
Vitamine in "Nutrizione Umana" 111
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 110
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 107
Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy. 105
A common polymorphism in SCN5A gene is associated with dilated cardiomyopathy 105
Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors 104
The hidden fragility in the heart of the athletes: A review of genetic biomarkers 103
Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations 101
Cardiomyopathies & Heart failure 2008. When and who: genetic testing” 101
Prenatal diagnosis of inherited diseases: 20 years? experience of an Italian Regional Reference Centre 101
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. 100
Ruolo dell'analisi genetica in cardiologia: le cardiomiopatie 100
Genetic Pre-Participation Screening in Selected Athletes: How can help for the Prevention of Sudden Cardiac Death? 100
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy 100
Totale 16.899
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Categoria #
all - tutte 62.084
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 62.084
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022986 0 0 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
2026/2027897 319 389 189 0 0 0 0 0 0 0 0 0
Totale 21.593