IRIS
GIORDANO, Mara
 Distribuzione geografica
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Continente #
EU - Europa 2.616
NA - Nord America 2.032
AS - Asia 831
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 7
SA - Sud America 3
AF - Africa 2
Totale 5.499
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Nazione #
US - Stati Uniti d'America 2.017
IE - Irlanda 819
CN - Cina 591
DE - Germania 502
SE - Svezia 403
IT - Italia 378
UA - Ucraina 272
FI - Finlandia 149
HK - Hong Kong 130
IN - India 77
GB - Regno Unito 32
IR - Iran 30
BE - Belgio 19
CA - Canada 15
FR - Francia 13
NL - Olanda 9
AU - Australia 8
RU - Federazione Russa 7
EU - Europa 6
CZ - Repubblica Ceca 3
BR - Brasile 2
EG - Egitto 2
ES - Italia 2
LI - Liechtenstein 2
NO - Norvegia 2
SA - Arabia Saudita 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AT - Austria 1
BG - Bulgaria 1
CH - Svizzera 1
CL - Cile 1
GR - Grecia 1
TR - Turchia 1
Totale 5.499
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Città #
Dublin 816
Jacksonville 506
Shenzhen 431
Dearborn 225
Chandler 165
Wilmington 136
Hong Kong 130
Lawrence 95
Princeton 95
Piemonte 87
Bremen 84
Beijing 80
Ann Arbor 71
San Mateo 71
Düsseldorf 68
Andover 50
Ashburn 44
Turin 42
Milan 36
Cassano Magnago 19
Leawood 17
Novara 17
Woodbridge 17
Houston 16
Monmouth Junction 15
Norwalk 15
Hefei 14
Brussels 13
Frankfurt am Main 13
Helsinki 13
Moncalieri 13
Zanjan 12
Boardman 10
Borgomanero 9
Kunming 9
Nanjing 8
Toronto 8
Bulandshahr 7
Philadelphia 7
Fairfield 6
Mülheim 6
Sacramento 6
West Jordan 6
Ardabil 5
Brisbane 5
Florence 5
Guangzhou 5
Rome 5
Waanrode 5
Bologna 4
Grafing 4
Nanchang 4
New York 4
San Diego 4
Seattle 4
Alessandria 3
Champigny-sur-marne 3
Gunzenhausen 3
Hebei 3
Henderson 3
Los Angeles 3
Redwood City 3
Shenyang 3
Strasbourg 3
Torino 3
Winnipeg 3
Amsterdam 2
Ancona 2
Augusta 2
Bollate 2
Bregnano 2
Brescia 2
Chongqing 2
Ciudad Real 2
Dallas 2
Genoa 2
Genova 2
Jenera 2
Jiaxing 2
Jinan 2
Marnate 2
Melbourne 2
Monastero di Vasco 2
Montes Claros 2
New Delhi 2
Oslo 2
Ottawa 2
Paris 2
Portland 2
Riyadh 2
Sogliano al Rubicone 2
Trecate 2
Trento 2
Twickenham 2
Vercelli 2
Vittoria 2
Wuhan 2
Xian 2
Avezzano 1
Basiano 1
Totale 3.661
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Nome #
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study. 502
Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity 127
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. 90
Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A 84
Identification of Haptoglobin as a Readout of rhGH Therapy in GH Deficiency 82
Variations in the High Mobility Group-A2 Gene (HMGA2) Are Associated With Idiopathic Short Stature (ISS) 79
. Linkage disequilibrium between intra-locus variants in the Aminopeptidase N gene and test of their association with coeliac disease 78
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers 76
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 76
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 71
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing 70
MOLECULAR ANALYSIS OF THE GROWTH HORMONE GENE IN ISOLATED GROWTH HORMONE DEFICIENCY: POSSIBILE INVOLVEMENT OF A PROMOTER POLYMORPHISM 68
Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD). 68
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 66
Origin of a regressed Myotonic Dystrophy allele 65
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. 65
Purifications and properties of a novel DNA-Methyltransferase from cultured rice cells. 64
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. 64
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease 64
Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease 63
Problems arising in correlating clinical and molecular data in myotonic dystrophy 61
A rapid method for detection of extra (TA) in the promoter of bilirubin-UDP-glucuronosyl-transferase-1 gene associated with Gilbert Syndrome 61
The case of the solitary sick kidney 61
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. 61
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency 61
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort 61
A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population 60
Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region 59
Reassessment of the specificity of lens opacities in myotonic dystrophy 58
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population. J. Neuroimmunology, 143: 97-100, 2003 58
Concordance, disease progression, and heritability of coeliac disease in Italian twins 58
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. 58
Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height. 58
Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood 58
The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism. 57
Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity 57
Genetic diseases and molecular genetics. 56
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency 56
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes. 55
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. 55
Circulating Platelet-Derived Extracellular Vesicles Are a Hallmark of Sars-Cov-2 Infection 55
Long-term sequelae are highly prevalent one year after hospitalization for severe COVID-19 55
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. 54
Screening for haemoglobin disorders: The experience of the piedmont north‐eastern quadrant 54
Osteopontin gene haplotypes correlate with multiple sclerosis development and progression 54
A NOVEL DELETION IN THE GH1 GENE INCLUDING THE IVS3 BRANCH SITE RESPONSIBLE FOR AUTOSOMIC DOMINANT ISOLATED GROWTH HORMONE DEFICIENCY (IGHD-II) 53
Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements. 53
CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes 53
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature 52
Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus 51
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 51
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. 51
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 51
Maternal effect in multiple sclerosis 50
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population 49
The First Case of the TARDBP p.G294V Mutation in a Homozygous State: Is a Single Pathogenic Allele Sufficient to Cause ALS? 49
A variation in a Pit-1 site in the GH1 promoter induces a differential transcriptional activity 48
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 47
Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes 46
Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene. 46
Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies 45
The Prevalence of Thyroid Autoimmunity in Children with Developmental Dyslexia 44
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study 43
Influence of ancestral gender on the transmission of familial amyotrophic lateral sclerosis. 42
New polymorphisms in the IL-10 promoter region 42
High levels of osteopontin associated to polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation 42
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature 42
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy 41
Genetic causes of isolated and combined pituitary hormone deficiency 41
Metabolomics diagnosis of covid-19 from exhaled breath condensate 41
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis 40
ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution 39
Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis 39
An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report 39
Testing for the cytosine insertion in the VNTR of MUC-1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. 39
Genetics of low stature. 38
Genetic defects in GH synthesis and secretion. 38
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency 38
Genetics of low stature. 37
HLA supratypes in an Italian population. 37
Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population 37
New Polymorphisms in the IL-10 promoter region 37
L’impatto del Long COVID è stato minore nella terza ondata della pandemia rispetto alla prima ondata in una popolazione italiana di 324 pazienti. 36
Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus 36
The IL12B gene does not confer susceptibility to coeliac disease 36
IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study 35
Decreased Gas6 and sAxl Plasma Levels Are Associated with Hair Loss in COVID-19 Survivors 34
Genetics of multiple sclerosis: linkage and association studies. 34
Meta and pooled analysis of European coeliac disease data 34
null 33
Homozygous tandem duplication within the gene encoding the beta subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa 33
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency. 31
MATERNAL EFFECT IN MULTIPLE SCLEROSIS (COMMENTARY) 31
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders 29
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency 27
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 26
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 26
Consumption of complement in a 26-year-old woman with severe thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination 22
COVID-19 first lockdown and outpatient hospital setting: a single center, real life study focusing on pattern changes in patients' ethnicities and treated dermatoses 22
Hereditary deficiency of the second component of complement: Early diagnosis and 21-year follow-up of a family 21
Totale 5.540
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Categoria #
all - tutte 24.644
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 24.644
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20199 0 0 0 0 0 0 0 0 0 0 3 6
2019/2020941 2 3 85 6 144 143 189 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
2023/2024957 53 59 488 26 90 21 137 25 27 18 13 0
Totale 5.633