IRIS
GIORDANO, Mara
 Distribuzione geografica
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Continente #
EU - Europa 2.777
NA - Nord America 2.111
AS - Asia 1.102
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 7
SA - Sud America 5
AF - Africa 4
Totale 6.016
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Nazione #
US - Stati Uniti d'America 2.088
IE - Irlanda 820
CN - Cina 595
DE - Germania 527
IT - Italia 434
SE - Svezia 405
UA - Ucraina 272
HK - Hong Kong 231
FI - Finlandia 163
SG - Singapore 158
IN - India 77
GB - Regno Unito 41
IR - Iran 30
FR - Francia 28
BE - Belgio 23
CA - Canada 23
CZ - Repubblica Ceca 23
NL - Olanda 14
AU - Australia 8
RU - Federazione Russa 8
EU - Europa 6
BR - Brasile 4
CH - Svizzera 4
EG - Egitto 3
KR - Corea 3
AE - Emirati Arabi Uniti 2
BG - Bulgaria 2
ES - Italia 2
LI - Liechtenstein 2
LT - Lituania 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
SA - Arabia Saudita 2
TR - Turchia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AT - Austria 1
BD - Bangladesh 1
CL - Cile 1
EE - Estonia 1
GR - Grecia 1
LA - Repubblica Popolare Democratica del Laos 1
MA - Marocco 1
PL - Polonia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 6.016
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Città #
Dublin 817
Jacksonville 506
Shenzhen 431
Hong Kong 231
Dearborn 225
Chandler 165
Wilmington 136
Singapore 107
Lawrence 95
Princeton 95
Piemonte 87
Bremen 84
Beijing 80
Ann Arbor 71
San Mateo 71
Düsseldorf 68
Andover 50
Ashburn 47
Turin 45
Milan 41
Helsinki 25
Brno 20
Cassano Magnago 19
Frankfurt am Main 18
Novara 18
Brussels 17
Leawood 17
Woodbridge 17
Houston 16
Boardman 15
Monmouth Junction 15
Munich 15
Norwalk 15
Hefei 14
Moncalieri 13
Toronto 13
Zanjan 12
Borgomanero 9
Kunming 9
Santa Clara 9
Vercelli 9
Nanjing 8
Bulandshahr 7
Los Angeles 7
Philadelphia 7
Rome 7
Fairfield 6
Mülheim 6
Sacramento 6
West Jordan 6
Amsterdam 5
Ardabil 5
Brisbane 5
Florence 5
Guangzhou 5
Limoges 5
New York 5
Ottawa 5
Paris 5
Waanrode 5
Bologna 4
Grafing 4
Leipzig 4
Nanchang 4
San Diego 4
Seattle 4
Alessandria 3
Champigny-sur-marne 3
Gunzenhausen 3
Hebei 3
Henderson 3
Nuremberg 3
Redwood City 3
Shenyang 3
Strasbourg 3
Torino 3
Winnipeg 3
Ancona 2
Arlington 2
Augusta 2
Bollate 2
Bregnano 2
Brescia 2
Cairo 2
Chongqing 2
Ciudad Real 2
Dallas 2
Drancy 2
Espoo 2
Genoa 2
Genova 2
Jenera 2
Jiaxing 2
Jinan 2
London 2
Manchester 2
Marnate 2
Melbourne 2
Monastero di Vasco 2
Montes Claros 2
Totale 3.980
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Nome #
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study. 506
Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity 150
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. 92
Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A 89
Identification of Haptoglobin as a Readout of rhGH Therapy in GH Deficiency 88
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 83
Variations in the High Mobility Group-A2 Gene (HMGA2) Are Associated With Idiopathic Short Stature (ISS) 82
. Linkage disequilibrium between intra-locus variants in the Aminopeptidase N gene and test of their association with coeliac disease 81
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers 77
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 77
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing 76
Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD). 74
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. 73
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. 70
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 69
MOLECULAR ANALYSIS OF THE GROWTH HORMONE GENE IN ISOLATED GROWTH HORMONE DEFICIENCY: POSSIBILE INVOLVEMENT OF A PROMOTER POLYMORPHISM 68
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease 68
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort 68
Purifications and properties of a novel DNA-Methyltransferase from cultured rice cells. 67
Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease 67
Long-term sequelae are highly prevalent one year after hospitalization for severe COVID-19 67
Origin of a regressed Myotonic Dystrophy allele 66
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. 66
The case of the solitary sick kidney 65
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency 65
Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region 65
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. 65
Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity 64
The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism. 63
Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood 63
Circulating Platelet-Derived Extracellular Vesicles Are a Hallmark of Sars-Cov-2 Infection 63
Problems arising in correlating clinical and molecular data in myotonic dystrophy 62
A rapid method for detection of extra (TA) in the promoter of bilirubin-UDP-glucuronosyl-transferase-1 gene associated with Gilbert Syndrome 62
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population. J. Neuroimmunology, 143: 97-100, 2003 62
A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population 62
Genetic diseases and molecular genetics. 62
Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height. 62
A NOVEL DELETION IN THE GH1 GENE INCLUDING THE IVS3 BRANCH SITE RESPONSIBLE FOR AUTOSOMIC DOMINANT ISOLATED GROWTH HORMONE DEFICIENCY (IGHD-II) 61
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency 61
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature 61
Concordance, disease progression, and heritability of coeliac disease in Italian twins 60
Reassessment of the specificity of lens opacities in myotonic dystrophy 59
The First Case of the TARDBP p.G294V Mutation in a Homozygous State: Is a Single Pathogenic Allele Sufficient to Cause ALS? 59
CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes 58
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. 57
Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements. 57
Screening for haemoglobin disorders: The experience of the piedmont north‐eastern quadrant 57
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. 56
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes. 55
Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus 55
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 55
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. 55
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 55
Osteopontin gene haplotypes correlate with multiple sclerosis development and progression 55
Decreased Gas6 and sAxl Plasma Levels Are Associated with Hair Loss in COVID-19 Survivors 54
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population 52
Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies 52
Maternal effect in multiple sclerosis 51
A variation in a Pit-1 site in the GH1 promoter induces a differential transcriptional activity 50
The Prevalence of Thyroid Autoimmunity in Children with Developmental Dyslexia 49
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 48
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 48
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes 47
Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene. 47
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy 47
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature 47
L’impatto del Long COVID è stato minore nella terza ondata della pandemia rispetto alla prima ondata in una popolazione italiana di 324 pazienti. 45
New polymorphisms in the IL-10 promoter region 45
High levels of osteopontin associated to polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation 45
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency 45
Metabolomics diagnosis of covid-19 from exhaled breath condensate 45
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis 44
Influence of ancestral gender on the transmission of familial amyotrophic lateral sclerosis. 43
Genetic causes of isolated and combined pituitary hormone deficiency 43
An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report 43
Testing for the cytosine insertion in the VNTR of MUC-1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. 42
Genetics of low stature. 41
ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution 41
Genetics of low stature. 41
Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis 41
The IL12B gene does not confer susceptibility to coeliac disease 40
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders 39
Genetic defects in GH synthesis and secretion. 39
Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population 39
HLA supratypes in an Italian population. 38
New Polymorphisms in the IL-10 promoter region 38
Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus 37
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. 36
IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study 36
Genetics of multiple sclerosis: linkage and association studies. 35
Meta and pooled analysis of European coeliac disease data 35
Homozygous tandem duplication within the gene encoding the beta subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa 34
The changing landscape of neonatal diabetes mellitus in Italy between 2003-2022 33
null 33
MATERNAL EFFECT IN MULTIPLE SCLEROSIS (COMMENTARY) 32
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency 32
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 32
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 29
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 29
Hereditary deficiency of the second component of complement: Early diagnosis and 21-year follow-up of a family 28
Totale 5.975
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Categoria #
all - tutte 34.225
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 34.225
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020558 0 0 0 0 0 0 189 40 97 121 106 5
2020/2021623 86 8 88 7 92 18 100 5 99 18 96 6
2021/2022815 32 31 84 106 66 4 65 32 38 35 164 158
2022/20231.709 127 93 91 34 151 137 51 57 844 10 73 41
2023/20241.109 53 59 488 26 90 21 137 25 27 18 63 102
2024/2025368 47 23 81 34 36 109 38 0 0 0 0 0
Totale 6.153