IRIS
GIORDANO, Mara
 Distribuzione geografica
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Continente #
NA - Nord America 5.440
EU - Europa 4.687
AS - Asia 3.308
SA - Sud America 497
Continente sconosciuto - Info sul continente non disponibili 159
AF - Africa 91
OC - Oceania 10
Totale 14.192
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Nazione #
US - Stati Uniti d'America 5.208
RU - Federazione Russa 1.085
CN - Cina 1.067
SG - Singapore 946
IE - Irlanda 814
IT - Italia 711
DE - Germania 638
SE - Svezia 416
HK - Hong Kong 404
VN - Vietnam 395
BR - Brasile 381
UA - Ucraina 293
FI - Finlandia 178
FR - Francia 178
GB - Regno Unito 140
IN - India 123
CA - Canada 112
BD - Bangladesh 77
KR - Corea 72
AR - Argentina 49
MX - Messico 39
ID - Indonesia 37
PL - Polonia 36
NL - Olanda 34
ES - Italia 33
IR - Iran 33
ZA - Sudafrica 27
CZ - Repubblica Ceca 26
BJ - Benin 25
BE - Belgio 24
JP - Giappone 24
IQ - Iraq 23
AT - Austria 22
TR - Turchia 21
EC - Ecuador 17
CO - Colombia 14
CR - Costa Rica 14
PK - Pakistan 14
HN - Honduras 13
LT - Lituania 13
AE - Emirati Arabi Uniti 10
VE - Venezuela 10
JM - Giamaica 9
PY - Paraguay 9
SA - Arabia Saudita 9
AU - Australia 8
CL - Cile 8
PH - Filippine 8
TT - Trinidad e Tobago 8
CH - Svizzera 7
EE - Estonia 7
KE - Kenya 7
DZ - Algeria 6
EU - Europa 6
GT - Guatemala 6
BG - Bulgaria 5
EG - Egitto 5
KZ - Kazakistan 5
MA - Marocco 5
NI - Nicaragua 5
PE - Perù 5
PR - Porto Rico 5
RS - Serbia 5
SV - El Salvador 5
TN - Tunisia 5
TW - Taiwan 5
IL - Israele 4
MY - Malesia 4
BB - Barbados 3
BY - Bielorussia 3
CW - ???statistics.table.value.countryCode.CW??? 3
CY - Cipro 3
DO - Repubblica Dominicana 3
GP - Guadalupe 3
LB - Libano 3
MD - Moldavia 3
SC - Seychelles 3
UY - Uruguay 3
UZ - Uzbekistan 3
AM - Armenia 2
AO - Angola 2
AZ - Azerbaigian 2
DK - Danimarca 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
PA - Panama 2
SK - Slovacchia (Repubblica Slovacca) 2
TH - Thailandia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BH - Bahrain 1
BM - Bermuda 1
BO - Bolivia 1
BS - Bahamas 1
Totale 14.026
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Città #
Dublin 810
San Jose 504
Jacksonville 502
Shenzhen 435
Hong Kong 402
Ashburn 351
Singapore 293
Council Bluffs 247
Dearborn 225
Beijing 214
Los Angeles 184
Chandler 165
New York 135
Wilmington 135
Ho Chi Minh City 133
Moscow 131
Columbus 108
Lauterbourg 103
Buffalo 98
Lawrence 94
Princeton 94
Hanoi 86
Piemonte 85
Bremen 83
Dallas 76
Ann Arbor 70
San Mateo 70
Santa Clara 70
Milan 67
Düsseldorf 65
Seoul 65
Turin 62
Novara 60
Orem 59
Phoenix 53
Frankfurt am Main 50
Andover 49
São Paulo 43
Helsinki 36
Munich 36
Toronto 34
Denver 33
Vercelli 32
Houston 30
Montreal 30
Redondo Beach 26
Warsaw 26
Cotonou 25
Brooklyn 24
Chicago 24
Poplar 24
The Dalles 23
Atlanta 22
Jakarta 22
Brno 21
Rome 21
Boardman 20
Cassano Magnago 19
Nuremberg 19
Boston 18
Mexico City 18
Tokyo 18
Brussels 17
Johannesburg 17
Leawood 17
Woodbridge 17
Chennai 16
Haiphong 16
Norwalk 16
Philadelphia 16
Stockholm 16
Ankara 15
Monmouth Junction 15
St Louis 15
Amsterdam 14
Hefei 14
Manchester 14
Bologna 13
Charlotte 13
Guangzhou 13
Moncalieri 13
Da Nang 12
Las Vegas 12
San José 12
Seattle 12
Tianjin 12
Zanjan 12
Falkenstein 11
Hangzhou 11
San Francisco 11
Querétaro 10
San Pedro Sula 10
The Bronx 10
Biên Hòa 9
Borgomanero 9
Kunming 9
London 9
Memphis 9
Nanjing 9
Porto Alegre 9
Totale 7.562
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Nome #
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study. 573
Dermatologic surveillance in healthy carriers of CDKN2A and p.E318K MITF germline variants from melanoma-prone families: a 14 years hospital-based experience 346
Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height. 322
Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD). 278
Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity 229
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature 211
Circulating Platelet-Derived Extracellular Vesicles Are a Hallmark of Sars-Cov-2 Infection 195
Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A 186
Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity 183
Identification of Haptoglobin as a Readout of rhGH Therapy in GH Deficiency 181
Long-term sequelae are highly prevalent one year after hospitalization for severe COVID-19 167
Determinants of long COVID among adults hospitalized for SARS-CoV-2 infection: A prospective cohort study 166
Decreased Gas6 and sAxl Plasma Levels Are Associated with Hair Loss in COVID-19 Survivors 161
Variations in the High Mobility Group-A2 Gene (HMGA2) Are Associated With Idiopathic Short Stature (ISS) 158
A NOVEL DELETION IN THE GH1 GENE INCLUDING THE IVS3 BRANCH SITE RESPONSIBLE FOR AUTOSOMIC DOMINANT ISOLATED GROWTH HORMONE DEFICIENCY (IGHD-II) 157
Screening for haemoglobin disorders: The experience of the piedmont north‐eastern quadrant 155
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. 152
The First Case of the TARDBP p.G294V Mutation in a Homozygous State: Is a Single Pathogenic Allele Sufficient to Cause ALS? 150
L’impatto del Long COVID è stato minore nella terza ondata della pandemia rispetto alla prima ondata in una popolazione italiana di 324 pazienti. 149
. Linkage disequilibrium between intra-locus variants in the Aminopeptidase N gene and test of their association with coeliac disease 149
Concordance, disease progression, and heritability of coeliac disease in Italian twins 148
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. 147
Metabolomics diagnosis of covid-19 from exhaled breath condensate 147
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 146
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 145
The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism. 143
Post-COVID-19 sequelae are associated with sustained SARS-CoV-2-specific CD4+ immune responses 142
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature 142
Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease 142
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing 141
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature 140
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 140
CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes 139
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency 139
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. 137
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders 136
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers 134
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. 133
Genetic diseases and molecular genetics. 133
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis 133
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease 132
Role of CES1 and ABCB1 Genetic Polymorphisms on Functional Response to Dabigatran in Patients with Atrial Fibrillation 129
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 129
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. 129
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. 127
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. 126
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. 125
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population. J. Neuroimmunology, 143: 97-100, 2003 124
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 124
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency 124
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort 124
A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population 123
A rapid method for detection of extra (TA) in the promoter of bilirubin-UDP-glucuronosyl-transferase-1 gene associated with Gilbert Syndrome 122
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 120
Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region 118
An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report 117
Towards a genetic obesity risk score in a single-center study of children and adolescents with obesity 116
MOLECULAR ANALYSIS OF THE GROWTH HORMONE GENE IN ISOLATED GROWTH HORMONE DEFICIENCY: POSSIBILE INVOLVEMENT OF A PROMOTER POLYMORPHISM 115
Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood 115
Platelets, Protean Cells with All-Around Functions and Multifaceted Pharmacological Applications 114
Testing for the cytosine insertion in the VNTR of MUC-1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. 114
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency 114
Problems arising in correlating clinical and molecular data in myotonic dystrophy 112
Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements. 112
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population 111
The case of the solitary sick kidney 110
The Prevalence of Thyroid Autoimmunity in Children with Developmental Dyslexia 109
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 109
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 108
The changing landscape of neonatal diabetes mellitus in Italy between 2003-2022 107
A variation in a Pit-1 site in the GH1 promoter induces a differential transcriptional activity 107
Osteopontin gene haplotypes correlate with multiple sclerosis development and progression 107
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy 106
Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies 106
Purifications and properties of a novel DNA-Methyltransferase from cultured rice cells. 102
Origin of a regressed Myotonic Dystrophy allele 100
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes. 100
Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus 96
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency 96
Genes and Microbiota Interaction in Monogenic Autoimmune Disorders 96
Research into New Molecular Mechanisms in Thrombotic Diseases Paves the Way for Innovative Therapeutic Approaches 95
Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene. 94
Maternal effect in multiple sclerosis 94
Reassessment of the specificity of lens opacities in myotonic dystrophy 92
Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus 91
Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination 87
MATERNAL EFFECT IN MULTIPLE SCLEROSIS (COMMENTARY) 86
Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients 84
Genetic defects in GH synthesis and secretion. 84
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. 83
Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders 82
Genetics of low stature. 82
New polymorphisms in the IL-10 promoter region 81
Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis 80
Genetic causes of isolated and combined pituitary hormone deficiency 79
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes 78
IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study 76
Influence of ancestral gender on the transmission of familial amyotrophic lateral sclerosis. 75
ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution 75
NOVEL MUTATIONS IN THE GROWTH HORMONE GENE (GH1) UNCOVER PUTATIVE SPLICING REGULATORY ELEMENTS 74
Totale 13.322
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Categoria #
all - tutte 64.130
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 64.130
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022664 0 0 0 106 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
2026/20271.348 258 433 299 358 0 0 0 0 0 0 0 0
Totale 14.192