IRIS
GIORDANO, Mara
 Distribuzione geografica
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Continente #
NA - Nord America 4.818
EU - Europa 4.599
AS - Asia 3.296
SA - Sud America 487
Continente sconosciuto - Info sul continente non disponibili 156
AF - Africa 88
OC - Oceania 10
Totale 13.454
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Nazione #
US - Stati Uniti d'America 4.651
RU - Federazione Russa 1.083
CN - Cina 1.066
SG - Singapore 944
IE - Irlanda 813
IT - Italia 672
DE - Germania 633
SE - Svezia 414
HK - Hong Kong 402
VN - Vietnam 394
BR - Brasile 374
UA - Ucraina 293
FI - Finlandia 178
FR - Francia 173
IN - India 123
GB - Regno Unito 118
CA - Canada 91
BD - Bangladesh 77
KR - Corea 72
AR - Argentina 48
MX - Messico 39
ID - Indonesia 37
PL - Polonia 36
ES - Italia 33
IR - Iran 33
NL - Olanda 33
CZ - Repubblica Ceca 26
ZA - Sudafrica 26
BJ - Benin 25
BE - Belgio 24
IQ - Iraq 23
AT - Austria 22
TR - Turchia 21
JP - Giappone 20
EC - Ecuador 16
PK - Pakistan 14
CO - Colombia 13
LT - Lituania 12
AE - Emirati Arabi Uniti 10
VE - Venezuela 10
PY - Paraguay 9
AU - Australia 8
CL - Cile 8
PH - Filippine 8
SA - Arabia Saudita 8
JM - Giamaica 7
KE - Kenya 7
DZ - Algeria 6
EU - Europa 6
HN - Honduras 6
BG - Bulgaria 5
CR - Costa Rica 5
EG - Egitto 5
KZ - Kazakistan 5
MA - Marocco 5
PE - Perù 5
RS - Serbia 5
TN - Tunisia 5
TW - Taiwan 5
CH - Svizzera 4
MY - Malesia 4
TT - Trinidad e Tobago 4
BB - Barbados 3
BY - Bielorussia 3
CY - Cipro 3
DO - Repubblica Dominicana 3
IL - Israele 3
LB - Libano 3
MD - Moldavia 3
SV - El Salvador 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
NI - Nicaragua 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
OM - Oman 2
PA - Panama 2
SK - Slovacchia (Repubblica Slovacca) 2
TH - Thailandia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BH - Bahrain 1
BO - Bolivia 1
BS - Bahamas 1
CI - Costa d'Avorio 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
Totale 13.295
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Città #
Dublin 810
Jacksonville 501
Shenzhen 435
San Jose 425
Hong Kong 400
Ashburn 329
Singapore 292
Dearborn 225
Council Bluffs 222
Beijing 214
Los Angeles 178
Chandler 165
Wilmington 135
Ho Chi Minh City 132
Moscow 131
New York 124
Columbus 107
Lauterbourg 103
Buffalo 94
Lawrence 94
Princeton 94
Hanoi 86
Piemonte 85
Bremen 83
Dallas 71
Ann Arbor 70
San Mateo 70
Düsseldorf 65
Seoul 65
Milan 61
Turin 61
Novara 60
Orem 58
Santa Clara 55
Frankfurt am Main 50
Andover 49
São Paulo 43
Helsinki 36
Munich 36
Vercelli 32
Toronto 31
Houston 29
Montreal 27
Denver 26
Redondo Beach 26
Warsaw 26
Cotonou 25
Poplar 24
The Dalles 23
Jakarta 22
Brno 21
Cassano Magnago 19
Nuremberg 19
Phoenix 19
Atlanta 18
Brooklyn 18
Mexico City 18
Rome 18
Brussels 17
Johannesburg 17
Leawood 17
Woodbridge 17
Boardman 16
Chennai 16
Haiphong 16
Ankara 15
Monmouth Junction 15
Norwalk 15
Stockholm 15
Amsterdam 14
Boston 14
Hefei 14
Manchester 14
Tokyo 14
Chicago 13
Guangzhou 13
Moncalieri 13
St Louis 13
Charlotte 12
Da Nang 12
Philadelphia 12
Tianjin 12
Zanjan 12
Bologna 11
Falkenstein 11
Hangzhou 11
Las Vegas 11
Querétaro 10
San Francisco 10
Seattle 10
Biên Hòa 9
Borgomanero 9
Kunming 9
Nanjing 9
Porto Alegre 9
Shanghai 9
Fairfield 8
London 8
Memphis 8
Phủ Lý 8
Totale 7.273
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Nome #
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study. 568
Dermatologic surveillance in healthy carriers of CDKN2A and p.E318K MITF germline variants from melanoma-prone families: a 14 years hospital-based experience 333
Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height. 310
Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD). 271
Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity 224
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature 192
Circulating Platelet-Derived Extracellular Vesicles Are a Hallmark of Sars-Cov-2 Infection 185
Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A 180
Identification of Haptoglobin as a Readout of rhGH Therapy in GH Deficiency 173
Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity 167
Long-term sequelae are highly prevalent one year after hospitalization for severe COVID-19 159
A NOVEL DELETION IN THE GH1 GENE INCLUDING THE IVS3 BRANCH SITE RESPONSIBLE FOR AUTOSOMIC DOMINANT ISOLATED GROWTH HORMONE DEFICIENCY (IGHD-II) 153
Determinants of long COVID among adults hospitalized for SARS-CoV-2 infection: A prospective cohort study 151
Variations in the High Mobility Group-A2 Gene (HMGA2) Are Associated With Idiopathic Short Stature (ISS) 151
Decreased Gas6 and sAxl Plasma Levels Are Associated with Hair Loss in COVID-19 Survivors 148
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. 147
The First Case of the TARDBP p.G294V Mutation in a Homozygous State: Is a Single Pathogenic Allele Sufficient to Cause ALS? 146
Screening for haemoglobin disorders: The experience of the piedmont north‐eastern quadrant 144
. Linkage disequilibrium between intra-locus variants in the Aminopeptidase N gene and test of their association with coeliac disease 143
L’impatto del Long COVID è stato minore nella terza ondata della pandemia rispetto alla prima ondata in una popolazione italiana di 324 pazienti. 142
Concordance, disease progression, and heritability of coeliac disease in Italian twins 142
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. 140
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 139
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 139
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 137
Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease 135
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing 134
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature 134
Metabolomics diagnosis of covid-19 from exhaled breath condensate 134
Post-COVID-19 sequelae are associated with sustained SARS-CoV-2-specific CD4+ immune responses 132
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders 132
The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism. 132
CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes 132
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. 130
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency 130
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers 128
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease 128
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis 128
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. 125
Genetic diseases and molecular genetics. 125
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature 124
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. 124
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. 122
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 122
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 120
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. 119
A rapid method for detection of extra (TA) in the promoter of bilirubin-UDP-glucuronosyl-transferase-1 gene associated with Gilbert Syndrome 117
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population. J. Neuroimmunology, 143: 97-100, 2003 117
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. 117
A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population 116
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort 115
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency 114
Role of CES1 and ABCB1 Genetic Polymorphisms on Functional Response to Dabigatran in Patients with Atrial Fibrillation 112
An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report 111
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 111
Testing for the cytosine insertion in the VNTR of MUC-1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. 111
Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood 110
Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region 109
MOLECULAR ANALYSIS OF THE GROWTH HORMONE GENE IN ISOLATED GROWTH HORMONE DEFICIENCY: POSSIBILE INVOLVEMENT OF A PROMOTER POLYMORPHISM 108
Platelets, Protean Cells with All-Around Functions and Multifaceted Pharmacological Applications 107
The case of the solitary sick kidney 107
Towards a genetic obesity risk score in a single-center study of children and adolescents with obesity 106
Problems arising in correlating clinical and molecular data in myotonic dystrophy 106
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency 106
A variation in a Pit-1 site in the GH1 promoter induces a differential transcriptional activity 104
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population 104
Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements. 104
The changing landscape of neonatal diabetes mellitus in Italy between 2003-2022 102
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy 102
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 102
The Prevalence of Thyroid Autoimmunity in Children with Developmental Dyslexia 102
Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies 101
Purifications and properties of a novel DNA-Methyltransferase from cultured rice cells. 99
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 99
Osteopontin gene haplotypes correlate with multiple sclerosis development and progression 98
Origin of a regressed Myotonic Dystrophy allele 94
Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus 94
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes. 93
Reassessment of the specificity of lens opacities in myotonic dystrophy 90
Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene. 90
Maternal effect in multiple sclerosis 90
Research into New Molecular Mechanisms in Thrombotic Diseases Paves the Way for Innovative Therapeutic Approaches 86
Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus 86
Genes and Microbiota Interaction in Monogenic Autoimmune Disorders 86
MATERNAL EFFECT IN MULTIPLE SCLEROSIS (COMMENTARY) 85
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency 84
Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination 83
Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients 79
New polymorphisms in the IL-10 promoter region 79
Genetic defects in GH synthesis and secretion. 79
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. 78
Genetics of low stature. 78
Genetic causes of isolated and combined pituitary hormone deficiency 77
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes 76
Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis 76
IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study 74
Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders 71
ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution 71
NOVEL MUTATIONS IN THE GROWTH HORMONE GENE (GH1) UNCOVER PUTATIVE SPLICING REGULATORY ELEMENTS 71
Influence of ancestral gender on the transmission of familial amyotrophic lateral sclerosis. 69
Totale 12.630
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Categoria #
all - tutte 60.056
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 60.056
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022778 0 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
2025/20265.517 227 197 425 757 554 357 687 801 325 376 301 510
2026/2027610 258 352 0 0 0 0 0 0 0 0 0 0
Totale 13.454