IRIS
GIORDANO, Mara
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 4.564
NA - Nord America 4.132
AS - Asia 3.250
SA - Sud America 484
AF - Africa 86
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 7
Totale 12.533
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 3.983
RU - Federazione Russa 1.083
CN - Cina 1.061
SG - Singapore 932
IE - Irlanda 813
IT - Italia 644
DE - Germania 633
SE - Svezia 414
HK - Hong Kong 397
VN - Vietnam 393
BR - Brasile 372
UA - Ucraina 293
FI - Finlandia 178
FR - Francia 170
IN - India 123
GB - Regno Unito 118
CA - Canada 85
KR - Corea 72
BD - Bangladesh 61
AR - Argentina 48
MX - Messico 38
ID - Indonesia 37
PL - Polonia 36
IR - Iran 33
ES - Italia 32
NL - Olanda 32
CZ - Repubblica Ceca 26
BJ - Benin 25
ZA - Sudafrica 25
BE - Belgio 24
IQ - Iraq 23
AT - Austria 22
TR - Turchia 21
EC - Ecuador 15
JP - Giappone 15
CO - Colombia 13
PK - Pakistan 13
LT - Lituania 12
AE - Emirati Arabi Uniti 10
VE - Venezuela 10
PY - Paraguay 9
AU - Australia 8
CL - Cile 8
SA - Arabia Saudita 8
JM - Giamaica 7
KE - Kenya 7
PH - Filippine 7
DZ - Algeria 6
EU - Europa 6
EG - Egitto 5
KZ - Kazakistan 5
MA - Marocco 5
PE - Perù 5
RS - Serbia 5
TN - Tunisia 5
TW - Taiwan 5
BG - Bulgaria 4
CH - Svizzera 4
CR - Costa Rica 4
MY - Malesia 4
BY - Bielorussia 3
CY - Cipro 3
DO - Repubblica Dominicana 3
HN - Honduras 3
IL - Israele 3
LB - Libano 3
MD - Moldavia 3
SV - El Salvador 3
TT - Trinidad e Tobago 3
UY - Uruguay 3
UZ - Uzbekistan 3
AM - Armenia 2
AO - Angola 2
AZ - Azerbaigian 2
ET - Etiopia 2
GR - Grecia 2
JO - Giordania 2
LI - Liechtenstein 2
MT - Malta 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
OM - Oman 2
SK - Slovacchia (Repubblica Slovacca) 2
TH - Thailandia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BB - Barbados 1
BH - Bahrain 1
BO - Bolivia 1
DK - Danimarca 1
DM - Dominica 1
EE - Estonia 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LY - Libia 1
ME - Montenegro 1
MN - Mongolia 1
MR - Mauritania 1
Totale 12.527
Salva come PNG Salva come JPEG
Città #
Dublin 810
Jacksonville 501
Shenzhen 435
Hong Kong 395
San Jose 395
Ashburn 314
Singapore 284
Dearborn 225
Beijing 213
Los Angeles 170
Chandler 165
Wilmington 134
Ho Chi Minh City 131
Moscow 131
New York 122
Lauterbourg 103
Lawrence 94
Princeton 94
Buffalo 92
Hanoi 86
Piemonte 85
Bremen 83
Council Bluffs 76
Ann Arbor 70
San Mateo 70
Dallas 67
Düsseldorf 65
Seoul 65
Novara 60
Turin 60
Orem 58
Milan 56
Frankfurt am Main 50
Andover 49
São Paulo 41
Santa Clara 39
Helsinki 36
Munich 36
Vercelli 32
Toronto 29
Redondo Beach 26
Warsaw 26
Cotonou 25
Denver 25
Houston 25
Montreal 25
Poplar 24
The Dalles 23
Jakarta 22
Brno 21
Cassano Magnago 19
Nuremberg 19
Brussels 17
Leawood 17
Mexico City 17
Phoenix 17
Woodbridge 17
Boardman 16
Chennai 16
Haiphong 16
Johannesburg 16
Rome 16
Ankara 15
Monmouth Junction 15
Norwalk 15
Stockholm 15
Amsterdam 14
Boston 14
Brooklyn 14
Hefei 14
Manchester 14
Tokyo 14
Chicago 13
Guangzhou 13
Moncalieri 13
Da Nang 12
St Louis 12
Tianjin 12
Zanjan 12
Atlanta 11
Falkenstein 11
Hangzhou 11
Bologna 10
Charlotte 10
Querétaro 10
Biên Hòa 9
Borgomanero 9
Kunming 9
Las Vegas 9
Nanjing 9
Philadelphia 9
Porto Alegre 9
Seattle 9
Shanghai 9
London 8
Phủ Lý 8
Rio de Janeiro 8
Vienna 8
Baghdad 7
Belo Horizonte 7
Totale 6.887
Salva come PNG Salva come JPEG
Nome #
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study. 566
Dermatologic surveillance in healthy carriers of CDKN2A and p.E318K MITF germline variants from melanoma-prone families: a 14 years hospital-based experience 317
Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD). 268
Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity 221
Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A 178
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature 171
Circulating Platelet-Derived Extracellular Vesicles Are a Hallmark of Sars-Cov-2 Infection 166
Identification of Haptoglobin as a Readout of rhGH Therapy in GH Deficiency 163
Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity 154
A NOVEL DELETION IN THE GH1 GENE INCLUDING THE IVS3 BRANCH SITE RESPONSIBLE FOR AUTOSOMIC DOMINANT ISOLATED GROWTH HORMONE DEFICIENCY (IGHD-II) 150
Variations in the High Mobility Group-A2 Gene (HMGA2) Are Associated With Idiopathic Short Stature (ISS) 149
Long-term sequelae are highly prevalent one year after hospitalization for severe COVID-19 143
Determinants of long COVID among adults hospitalized for SARS-CoV-2 infection: A prospective cohort study 142
The First Case of the TARDBP p.G294V Mutation in a Homozygous State: Is a Single Pathogenic Allele Sufficient to Cause ALS? 141
Decreased Gas6 and sAxl Plasma Levels Are Associated with Hair Loss in COVID-19 Survivors 140
Screening for haemoglobin disorders: The experience of the piedmont north‐eastern quadrant 140
Molecular analysis of the Growth Hormone Releasing Hormone Receptor (GHRH-R) gene in Isolated Growth Hormone Deficiency (IGHD): identification of a likely etiological mutation in the signal peptide. 139
. Linkage disequilibrium between intra-locus variants in the Aminopeptidase N gene and test of their association with coeliac disease 139
L’impatto del Long COVID è stato minore nella terza ondata della pandemia rispetto alla prima ondata in una popolazione italiana di 324 pazienti. 137
A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency 137
Concordance, disease progression, and heritability of coeliac disease in Italian twins 136
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies 136
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. 132
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing 132
Cardiovascular Risk Profile of Patients Hospitalized for Myocardial Infarction is Undestimated by Traditional Risk Factors and is Better Estimated by a Genetic Analysis Based Upon Single Nucleotide Polymorphisms: A Retrospective Study 131
Metabolomics diagnosis of covid-19 from exhaled breath condensate 131
Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease 130
CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes 129
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers 125
The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism. 125
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease 125
Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height. 125
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. 125
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency 125
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. 123
Genetic diseases and molecular genetics. 123
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis 123
Post-COVID-19 sequelae are associated with sustained SARS-CoV-2-specific CD4+ immune responses 121
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature 121
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. 118
Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene and study of their association with multiple sclerosis 118
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. 117
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. 115
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population. J. Neuroimmunology, 143: 97-100, 2003 114
Association of the (CA)(n) repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency. 113
A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population 113
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort 113
A rapid method for detection of extra (TA) in the promoter of bilirubin-UDP-glucuronosyl-transferase-1 gene associated with Gilbert Syndrome 111
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency 111
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature 110
Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood 108
Role of CES1 and ABCB1 Genetic Polymorphisms on Functional Response to Dabigatran in Patients with Atrial Fibrillation 107
Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants 107
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders 107
Testing for the cytosine insertion in the VNTR of MUC-1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. 107
Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region 107
The case of the solitary sick kidney 105
An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report 104
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population 102
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 102
MOLECULAR ANALYSIS OF THE GROWTH HORMONE GENE IN ISOLATED GROWTH HORMONE DEFICIENCY: POSSIBILE INVOLVEMENT OF A PROMOTER POLYMORPHISM 101
A variation in a Pit-1 site in the GH1 promoter induces a differential transcriptional activity 101
Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements. 101
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency 101
Platelets, Protean Cells with All-Around Functions and Multifaceted Pharmacological Applications 100
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy 98
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 98
The Prevalence of Thyroid Autoimmunity in Children with Developmental Dyslexia 98
Purifications and properties of a novel DNA-Methyltransferase from cultured rice cells. 97
Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies 96
A long contiguous stretch of homozygosity disclosed a novel stag3 biallelic pathogenic variant causing primary ovarian insufficiency: A case report and review of the literature 96
The changing landscape of neonatal diabetes mellitus in Italy between 2003-2022 95
Problems arising in correlating clinical and molecular data in myotonic dystrophy 95
Osteopontin gene haplotypes correlate with multiple sclerosis development and progression 94
Towards a genetic obesity risk score in a single-center study of children and adolescents with obesity 92
Origin of a regressed Myotonic Dystrophy allele 92
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes. 90
Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus 89
Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene. 88
Reassessment of the specificity of lens opacities in myotonic dystrophy 87
Maternal effect in multiple sclerosis 87
Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus 82
Genes and Microbiota Interaction in Monogenic Autoimmune Disorders 82
MATERNAL EFFECT IN MULTIPLE SCLEROSIS (COMMENTARY) 81
Research into New Molecular Mechanisms in Thrombotic Diseases Paves the Way for Innovative Therapeutic Approaches 79
Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination 79
Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients 76
New polymorphisms in the IL-10 promoter region 76
Genetics of low stature. 76
Genetic defects in GH synthesis and secretion. 76
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency 76
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes 74
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. 73
Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis 73
IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study 72
Genetic causes of isolated and combined pituitary hormone deficiency 72
Influence of ancestral gender on the transmission of familial amyotrophic lateral sclerosis. 67
Genetics of low stature. 67
ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution 67
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 66
Totale 11.898
Salva come PNG Salva come JPEG
Categoria #
all - tutte 56.841
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 56.841
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20216 0 0 0 0 0 0 0 0 0 0 0 6
2021/2022810 32 31 83 106 66 3 64 32 37 35 164 157
2022/20231.695 126 92 90 34 150 136 50 57 836 10 73 41
2023/20241.135 54 60 488 28 90 21 138 25 27 36 64 104
2024/20251.560 50 23 83 36 37 110 179 97 299 176 148 322
2025/20265.354 227 197 425 757 554 357 687 801 325 376 301 347
Totale 12.681