IRIS
GIORDANO, Mara
 Distribuzione geografica
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Continente #
EU - Europa 3.439
NA - Nord America 3.019
AS - Asia 2.491
SA - Sud America 431
AF - Africa 63
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 7
Totale 9.460
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Nazione #
US - Stati Uniti d'America 2.918
IE - Irlanda 811
SG - Singapore 799
CN - Cina 798
DE - Germania 619
IT - Italia 561
SE - Svezia 415
HK - Hong Kong 368
BR - Brasile 348
UA - Ucraina 292
RU - Federazione Russa 212
VN - Vietnam 200
FI - Finlandia 178
IN - India 103
GB - Regno Unito 101
KR - Corea 70
CA - Canada 62
FR - Francia 62
AR - Argentina 39
ID - Indonesia 35
IR - Iran 33
PL - Polonia 33
MX - Messico 29
BJ - Benin 26
CZ - Repubblica Ceca 26
NL - Olanda 26
BE - Belgio 23
BD - Bangladesh 21
ES - Italia 21
AT - Austria 20
ZA - Sudafrica 18
TR - Turchia 16
IQ - Iraq 12
LT - Lituania 12
EC - Ecuador 11
JP - Giappone 10
CO - Colombia 9
AE - Emirati Arabi Uniti 8
AU - Australia 8
PY - Paraguay 7
EU - Europa 6
CL - Cile 5
DZ - Algeria 5
EG - Egitto 5
VE - Venezuela 5
BG - Bulgaria 4
CH - Svizzera 4
PE - Perù 4
PK - Pakistan 4
RS - Serbia 4
SA - Arabia Saudita 4
BY - Bielorussia 3
DO - Repubblica Dominicana 3
TN - Tunisia 3
AZ - Azerbaigian 2
HU - Ungheria 2
KE - Kenya 2
LI - Liechtenstein 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
SK - Slovacchia (Repubblica Slovacca) 2
TT - Trinidad e Tobago 2
UY - Uruguay 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
BH - Bahrain 1
BO - Bolivia 1
DM - Dominica 1
EE - Estonia 1
ET - Etiopia 1
GR - Grecia 1
HN - Honduras 1
IL - Israele 1
JM - Giamaica 1
JO - Giordania 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
MA - Marocco 1
MD - Moldavia 1
RO - Romania 1
SN - Senegal 1
SV - El Salvador 1
TW - Taiwan 1
Totale 9.460
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Città #
Dublin 808
Jacksonville 501
Shenzhen 431
Hong Kong 368
Singapore 228
Dearborn 225
Beijing 202
Ashburn 198
Chandler 165
Wilmington 134
Los Angeles 108
Lawrence 94
Princeton 94
Moscow 88
Piemonte 85
Bremen 83
Ho Chi Minh City 76
Ann Arbor 70
San Mateo 70
Seoul 66
Düsseldorf 65
Novara 62
Milan 53
Turin 52
New York 50
Andover 49
Buffalo 47
Hanoi 44
Dallas 42
Frankfurt am Main 41
São Paulo 39
Helsinki 36
Munich 36
Vercelli 30
Cotonou 26
Redondo Beach 26
Warsaw 24
Poplar 23
Jakarta 22
Brno 21
Houston 21
Santa Clara 20
Toronto 20
Cassano Magnago 19
Denver 19
Nuremberg 19
Montreal 18
Brussels 17
Leawood 17
Woodbridge 17
Boardman 16
Stockholm 16
Monmouth Junction 15
Norwalk 15
Hefei 14
Mexico City 14
Boston 13
Moncalieri 13
Orem 13
Ankara 12
Johannesburg 12
Zanjan 12
Chennai 11
Phoenix 11
Tianjin 11
Amsterdam 10
Brooklyn 10
Haiphong 10
Tokyo 10
Borgomanero 9
Kunming 9
Manchester 9
Nanjing 9
Porto Alegre 9
Querétaro 9
Rio de Janeiro 9
Atlanta 8
Biên Hòa 8
Falkenstein 8
Seattle 8
Bulandshahr 7
Fairfield 7
Leipzig 7
London 7
New Delhi 7
Omegna 7
Philadelphia 7
Rome 7
The Dalles 7
Vienna 7
Wroclaw 7
Bexley 6
Brasília 6
Chicago 6
Curitiba 6
Guangzhou 6
Mülheim 6
Ottawa 6
Phủ Lý 6
Sacramento 6
Totale 5.533
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Nome #
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study. 527
Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD). 246
Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity 198
Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A 136
Identification of Haptoglobin as a Readout of rhGH Therapy in GH Deficiency 129
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 120
A NOVEL DELETION IN THE GH1 GENE INCLUDING THE IVS3 BRANCH SITE RESPONSIBLE FOR AUTOSOMIC DOMINANT ISOLATED GROWTH HORMONE DEFICIENCY (IGHD-II) 117
The First Case of the TARDBP p.G294V Mutation in a Homozygous State: Is a Single Pathogenic Allele Sufficient to Cause ALS? 116
Variations in the High Mobility Group-A2 Gene (HMGA2) Are Associated With Idiopathic Short Stature (ISS) 114
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 111
Circulating Platelet-Derived Extracellular Vesicles Are a Hallmark of Sars-Cov-2 Infection 111
Screening for haemoglobin disorders: The experience of the piedmont north‐eastern quadrant 110
Concordance, disease progression, and heritability of coeliac disease in Italian twins 109
Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity 109
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. 107
. Linkage disequilibrium between intra-locus variants in the Aminopeptidase N gene and test of their association with coeliac disease 107
Long-term sequelae are highly prevalent one year after hospitalization for severe COVID-19 107
Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease 106
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing 106
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease 104
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency 104
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers 103
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. 103
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature 103
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. 102
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. 101
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. 101
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 101
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 97
Decreased Gas6 and sAxl Plasma Levels Are Associated with Hair Loss in COVID-19 Survivors 95
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. 95
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. 93
Determinants of long COVID among adults hospitalized for SARS-CoV-2 infection: A prospective cohort study 92
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population. J. Neuroimmunology, 143: 97-100, 2003 92
The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism. 92
Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region 92
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort 92
A rapid method for detection of extra (TA) in the promoter of bilirubin-UDP-glucuronosyl-transferase-1 gene associated with Gilbert Syndrome 90
Metabolomics diagnosis of covid-19 from exhaled breath condensate 90
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis 90
Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height. 89
CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes 88
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency 88
A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population 88
An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report 86
Testing for the cytosine insertion in the VNTR of MUC-1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. 86
L’impatto del Long COVID è stato minore nella terza ondata della pandemia rispetto alla prima ondata in una popolazione italiana di 324 pazienti. 85
The case of the solitary sick kidney 85
Purifications and properties of a novel DNA-Methyltransferase from cultured rice cells. 84
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. 84
MOLECULAR ANALYSIS OF THE GROWTH HORMONE GENE IN ISOLATED GROWTH HORMONE DEFICIENCY: POSSIBILE INVOLVEMENT OF A PROMOTER POLYMORPHISM 82
Genetic diseases and molecular genetics. 82
Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood 82
Origin of a regressed Myotonic Dystrophy allele 81
A variation in a Pit-1 site in the GH1 promoter induces a differential transcriptional activity 81
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population 80
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature 80
Problems arising in correlating clinical and molecular data in myotonic dystrophy 79
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 79
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 79
Osteopontin gene haplotypes correlate with multiple sclerosis development and progression 79
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency 78
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders 77
Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements. 77
The Prevalence of Thyroid Autoimmunity in Children with Developmental Dyslexia 76
Reassessment of the specificity of lens opacities in myotonic dystrophy 75
Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene. 75
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes. 73
Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies 73
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 71
Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus 71
Maternal effect in multiple sclerosis 68
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 68
Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus 64
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy 64
Genetic defects in GH synthesis and secretion. 64
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature 63
Platelets, Protean Cells with All-Around Functions and Multifaceted Pharmacological Applications 63
Genetics of low stature. 63
MATERNAL EFFECT IN MULTIPLE SCLEROSIS (COMMENTARY) 60
IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study 60
Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination 59
Post-COVID-19 sequelae are associated with sustained SARS-CoV-2-specific CD4+ immune responses 58
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes 58
New polymorphisms in the IL-10 promoter region 58
Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis 58
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency 58
Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity 57
Influence of ancestral gender on the transmission of familial amyotrophic lateral sclerosis. 56
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. 55
Genetic causes of isolated and combined pituitary hormone deficiency 55
Towards a genetic obesity risk score in a single-center study of children and adolescents with obesity 54
Research into New Molecular Mechanisms in Thrombotic Diseases Paves the Way for Innovative Therapeutic Approaches 54
Role of CES1 and ABCB1 Genetic Polymorphisms on Functional Response to Dabigatran in Patients with Atrial Fibrillation 53
Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients 53
Dermatologic surveillance in healthy carriers of CDKN2A and p.E318K MITF germline variants from melanoma-prone families: a 14 years hospital-based experience 53
Genetics of low stature. 53
ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution 53
The changing landscape of neonatal diabetes mellitus in Italy between 2003-2022 52
Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population 52
Totale 8.997
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Categoria #
all - tutte 49.265
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 49.265
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021339 0 0 0 0 0 18 99 5 98 18 95 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
2024/20251.582 50 23 83 36 37 110 179 105 305 177 149 328
2025/20262.259 231 200 428 768 566 66 0 0 0 0 0 0
Totale 9.608