IRIS
ESPOSITO, GABRIELLA
 Distribuzione geografica
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Continente #
AS - Asia 3.465
NA - Nord America 3.286
EU - Europa 3.200
SA - Sud America 386
AF - Africa 92
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 1
Totale 10.434
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Nazione #
US - Stati Uniti d'America 3.157
SG - Singapore 1.605
RU - Federazione Russa 1.094
IT - Italia 1.069
CN - Cina 677
VN - Vietnam 603
BR - Brasile 317
HK - Hong Kong 231
DE - Germania 179
FR - Francia 149
NL - Olanda 141
UA - Ucraina 137
FI - Finlandia 133
GB - Regno Unito 100
IN - India 65
CA - Canada 64
JP - Giappone 61
IE - Irlanda 53
MX - Messico 43
BD - Bangladesh 36
SE - Svezia 30
KR - Corea 28
PL - Polonia 27
AR - Argentina 26
ZA - Sudafrica 23
CI - Costa d'Avorio 22
IQ - Iraq 22
AT - Austria 16
CH - Svizzera 16
ES - Italia 16
EC - Ecuador 15
PH - Filippine 15
TH - Thailandia 15
ID - Indonesia 13
MA - Marocco 11
TR - Turchia 11
BE - Belgio 10
KE - Kenya 10
PK - Pakistan 10
IR - Iran 8
JM - Giamaica 7
UZ - Uzbekistan 7
VE - Venezuela 7
CO - Colombia 6
LT - Lituania 6
TW - Taiwan 6
AE - Emirati Arabi Uniti 5
CL - Cile 5
KZ - Kazakistan 5
AZ - Azerbaigian 4
DO - Repubblica Dominicana 4
EG - Egitto 4
IL - Israele 4
JO - Giordania 4
PY - Paraguay 4
RS - Serbia 4
SY - Repubblica araba siriana 4
CG - Congo 3
CR - Costa Rica 3
ET - Etiopia 3
LB - Libano 3
MY - Malesia 3
NP - Nepal 3
PE - Perù 3
RO - Romania 3
AL - Albania 2
BG - Bulgaria 2
BH - Bahrain 2
BW - Botswana 2
GD - Grenada 2
GE - Georgia 2
MD - Moldavia 2
PS - Palestinian Territory 2
PT - Portogallo 2
SA - Arabia Saudita 2
SN - Senegal 2
TN - Tunisia 2
UY - Uruguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
AD - Andorra 1
AO - Angola 1
AU - Australia 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BY - Bielorussia 1
CW - ???statistics.table.value.countryCode.CW??? 1
CY - Cipro 1
CZ - Repubblica Ceca 1
DZ - Algeria 1
EE - Estonia 1
EU - Europa 1
GA - Gabon 1
GM - Gambi 1
GN - Guinea 1
GP - Guadalupe 1
GT - Guatemala 1
HR - Croazia 1
KH - Cambogia 1
KW - Kuwait 1
LK - Sri Lanka 1
Totale 10.417
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Città #
Singapore 742
San Jose 514
Chandler 292
Moscow 281
Ashburn 280
Hong Kong 216
Beijing 194
Ho Chi Minh City 155
Naples 151
Hanoi 145
Santa Clara 141
Napoli 132
Hefei 115
Amsterdam 108
Jacksonville 108
Los Angeles 90
Lauterbourg 85
Millbury 79
The Dalles 77
Boston 61
Princeton 58
Tokyo 56
Buffalo 54
New York 50
Rome 47
Nanjing 46
Munich 42
Dallas 39
Dong Ket 36
Milan 36
Council Bluffs 35
São Paulo 35
Frankfurt am Main 30
Helsinki 30
Des Moines 29
Da Nang 28
Wilmington 28
Denver 26
Redondo Beach 25
Turku 25
Lappeenranta 24
Seoul 22
Warsaw 21
Haiphong 20
Houston 20
Atlanta 19
Orem 19
Chennai 18
Mexico City 18
London 17
Washington 17
Lawrence 16
Phoenix 16
Woodbridge 16
Montreal 15
Nuremberg 15
Ottawa 15
Bologna 14
Chicago 14
Redwood City 14
Brooklyn 13
Düsseldorf 13
Cagliari 12
Caserta 12
Seattle 12
Tianjin 12
Baghdad 11
Boardman 11
Falkenstein 11
Manchester 11
Poplar 11
San Francisco 11
Ann Arbor 10
Catania 10
Changsha 10
Ercolano 10
Johannesburg 10
Kochi 10
Kronberg 10
Nanchang 10
Nola 10
Geneva 9
Hebei 9
Mumbai 9
Nocera Superiore 9
Palermo 9
Stockholm 9
Bacoli 8
Shenyang 8
Thái Nguyên 8
Toronto 8
Turin 8
Waanrode 8
Bari 7
Florence 7
Kunming 7
Nairobi 7
Norwalk 7
Salerno 7
Shanghai 7
Totale 5.452
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Nome #
DEGENERAZIONI RETINICHE EREDITARIE: GENETICA MOLECOLARE DELLE RETINITI PIGMENTOSE DOMINANTI E DELLA COROIDEREMIA 487
A novel mutation in RP1 is a major cause of autosomal dominant retinitis pigmentosa in Southern Italy. 195
Intranuclear Signaling Cascades Triggered by Nuclear GPCRs 179
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 172
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis 166
14-3-3 theta, a direct interactor of AF4, influences HOXA9 expression in RS4;11 leukemia cell line. 166
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. 164
Formyl-Peptide Receptor 2 Signaling Modulates SLC7A11/xCT Expression and Activity in Tumor Cells 156
Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child 154
Phosphoproteomic analysis sheds light on intracellular signaling cascades triggered by Formyl-Peptide Receptor 2 148
Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. 146
Formyl-peptide receptor 2 signalling triggers aerobic metabolism of glucose through Nox2-dependent modulation of pyruvate dehydrogenase activity 145
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients 144
Identificazione di interattori proteici di AF4, partner di traslocazione del gene MLL (Mixed Lineage Leukaemia) nelle leucemie acute 140
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance 140
14-3-3 θ over-expression increases both the cytosolic amount of AF4 and the expression levels of its target genes. 138
SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss 136
Formyl Peptide Receptor 1 Modulates Endothelial Cell Functions by NADPH Oxidase-Dependent VEGFR2 Transactivation 136
Comprehensive molecular analysis of DMD gene increases the diagnostic value of dystrophinopathies: A pilot study in a southern Italy cohort of patients 136
Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing 135
A sporadic case of hemophilia A detected by RFLP analysis 133
A sporadic case of hemophilia A detected by RFLP analysis 132
MLL-AF4 oncoprotein up-regulates fibroblast growth factor receptor 2 (FGFR2) gene expression in hematopoietic progenitor cells 130
Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature 129
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab 127
Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function 126
BBS1, BBS10 and BBS2 are major causative genes for Bardet-Biedl syndrome in Italian patients. 126
Pro-Resolving FPR2 Agonists Regulate NADPH Oxidase-Dependent Phosphorylation of HSP27, OSR1, and MARCKS and Activation of the Respective Upstream Kinases 126
MiR‐27a downregulates 14‐3‐3θ, RUNX1, AF4, and MLL‐AF4, crucial drivers of blast transformation in t(4;11) leukemia cells 124
Identification of two mutation within the transglutaminase 1 gene patients with lamellar ichthyosis. 124
Interaction with 14-3-3 θ reduces AF4 transactivation function by inhibiting its nuclear translocation 123
SET-PP2A complex as a new therapeutic target in KMT2A (MLL) rearranged AML 122
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 122
NOX2-Dependent Reactive Oxygen Species Regulate Formyl-Peptide Receptor 1-Mediated TrkA Transactivation in SH-SY5Y Cells 122
Formyl Peptide Receptor 2-Dependent cPLA2 and 5-LOX Activation Requires a Functional NADPH Oxidase 121
Hereditary fructose intolerance and celiac disease: a novel genetic association 120
Formyl-Peptide Receptor 2 Signaling Redirects Glucose and Glutamine into Anabolic Pathways in Metabolic Reprogramming of Lung Cancer Cells 119
Transglutaminase 1 Gene Mutations in Italian Patients with Autosomal Recessive Lamellar Ichthyosis 119
Regulation of inflammation and oxidative stress by formyl peptide receptors in cardiovascular disease progression 119
The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene 118
Knockdown of the BBS10 Gene Product Affects Apical Targeting of AQP2 in Renal Cells: A Possible Explanation for the Polyuria Associated with Bardet-Biedl Syndrome 118
Analisi del ruolo di interattori molecolari AF4-specifici nella funzione aberrante dell’oncoproteina chimerica MLL-AF4 117
Characterization of the interactome of the proto-oncogene AF4 116
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies 115
Protein network study of human AF4 reveals its central role in the RNA Pol II-mediated transcription and in phosphorylation-dependent regulatory mechanisms. 115
Fisiopatologia molecolare di proteine coinvolte in pathways di regolazione genica cervello-specifica attraverso l'identificazione dei loro interattori macromolecolari 113
Nuclear localization of Formyl-Peptide Receptor 2 in human cancer cells 113
NOX Dependent ROS Generation and Cell Metabolism 112
Rapid identification of beta-globin gene cluster mutations by a variety of PCR based procedures 112
A study of aldolase B gene in patients with hereditary fructose intolerance 112
Phosphorylation sites in protein kinases and phosphatases regulated by formyl peptide receptor 2 signaling 112
Molecular characterization of choroideremia-associated deletions reveals an unexpected regulation of CHM gene transcription 110
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. 108
ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study 106
Regulation of the aldolase C gene expression and studies of the aldolase B molecular alterations causing hereditary fructose intolerance 105
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene 105
Posters 102
A unique origin for the Sicilian (__)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis. 100
Interleukin-1 receptor-associated kinase 1 (IRAK1) and Heat shock protein 90 kDa alpha B1 (HSP90) are up-regulated by AF4. 99
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily 98
Analisi del ruolo funzionale di AF4, proteina coinvolta nella patogenesi molecolare della leucemia linfoblastica acuta, mediante l'identificazione di partners molecolari e geni target 97
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion 97
A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure. 97
Nuclear fgfr2 interacts with the mll-af4 oncogenic chimera and positively regulates hoxa9 gene expression in t(4;11) leukemia cells 97
A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient 96
Lamellar ichthyosis and arthrogryposis in a premature neonate 94
Rod and cone-mediated function in choroideremia carriers with mutations in the REP-1 gene 93
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1 93
Fibroblast growth factor receptor 2 (FGFR2) is a potential activator of the MLL-AF4 leukemogenic protein. 93
Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation 92
Detection of beta-thalassemia mutations using the multiplex amplification refractory mutation system (MARMS) and the denaturing gradient gel electrophoresis (DGGE) 90
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene 89
Screening fmr1 gene in patients with sporadic ataxia 89
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. 85
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 83
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants 83
Diagnosi molecolare e prenatale di coroideremia 80
Molecular genetics of inborn errors of metabolism: the case of hereditary fructose intolerance and hyperphenylalaninemia 79
From protein-protein interaction studies new potential therapeutic targets to treat the MLL-related acute lymphoblastic leukemias 78
A 15-year molecular analysis of Duchenne/Becker muscular dystrophy: genetic features in a large cohort 76
CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia 76
A unique origin for Sicilian (delta/beta)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis 75
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at the arginine 303 in human liver aldolase 74
The molecular basis of hereditary fructose intolerance in italian children 70
The molecular basis of hereditary fructose intolerance in italian children 67
Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies 66
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach 60
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy 57
Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives 53
Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs) 38
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance 36
null 34
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology 21
Spinal muscular atrophy in the era of newborn screening: how the classification could change 19
LAT1/SLC7A5-mediated amino acid uptake is regulated by redox signals triggered by formyl-peptide receptor 2 16
Regulation of Amino Acid Transporters by Cell Surface Receptors 6
Totale 10.602
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Categoria #
all - tutte 31.730
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 31.730
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202144 0 0 0 0 0 0 0 0 0 0 0 44
2021/2022472 13 1 8 31 7 13 6 18 52 28 111 184
2022/2023709 81 83 18 58 96 76 15 57 81 102 31 11
2023/2024595 29 62 79 52 35 71 17 73 19 19 91 48
2024/20252.574 119 118 29 55 61 179 243 198 191 259 934 188
2025/20265.057 546 407 466 538 970 192 571 312 516 366 149 24
Totale 10.602