IRIS
ESPOSITO, GABRIELLA
 Distribuzione geografica
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Continente #
EU - Europa 2.978
AS - Asia 2.709
NA - Nord America 2.482
SA - Sud America 368
AF - Africa 69
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 1
Totale 8.609
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Nazione #
US - Stati Uniti d'America 2.386
SG - Singapore 1.515
RU - Federazione Russa 1.091
IT - Italia 1.004
CN - Cina 612
BR - Brasile 306
HK - Hong Kong 202
VN - Vietnam 192
DE - Germania 161
NL - Olanda 136
UA - Ucraina 135
FI - Finlandia 121
GB - Regno Unito 88
IE - Irlanda 53
FR - Francia 52
IN - India 50
CA - Canada 42
MX - Messico 38
SE - Svezia 30
PL - Polonia 27
AR - Argentina 24
KR - Corea 23
CI - Costa d'Avorio 21
ZA - Sudafrica 20
BD - Bangladesh 17
AT - Austria 14
CH - Svizzera 14
EC - Ecuador 13
JP - Giappone 13
ES - Italia 12
IQ - Iraq 11
TR - Turchia 11
BE - Belgio 10
ID - Indonesia 10
IR - Iran 8
VE - Venezuela 7
CO - Colombia 6
LT - Lituania 6
MA - Marocco 6
PK - Pakistan 6
AE - Emirati Arabi Uniti 5
KE - Kenya 5
KZ - Kazakistan 5
DO - Repubblica Dominicana 4
JM - Giamaica 4
RS - Serbia 4
UZ - Uzbekistan 4
AZ - Azerbaigian 3
CL - Cile 3
EG - Egitto 3
IL - Israele 3
PE - Perù 3
PY - Paraguay 3
RO - Romania 3
SY - Repubblica araba siriana 3
AL - Albania 2
BG - Bulgaria 2
BW - Botswana 2
CR - Costa Rica 2
GD - Grenada 2
MD - Moldavia 2
MY - Malesia 2
NP - Nepal 2
PT - Portogallo 2
SA - Arabia Saudita 2
SN - Senegal 2
UY - Uruguay 2
AD - Andorra 1
AO - Angola 1
AU - Australia 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BY - Bielorussia 1
CG - Congo 1
CY - Cipro 1
CZ - Repubblica Ceca 1
EE - Estonia 1
ET - Etiopia 1
EU - Europa 1
GA - Gabon 1
GM - Gambi 1
GN - Guinea 1
GP - Guadalupe 1
GT - Guatemala 1
HR - Croazia 1
JO - Giordania 1
KH - Cambogia 1
LK - Sri Lanka 1
LU - Lussemburgo 1
LV - Lettonia 1
MK - Macedonia 1
ML - Mali 1
MN - Mongolia 1
NG - Nigeria 1
PA - Panama 1
PH - Filippine 1
PR - Porto Rico 1
PS - Palestinian Territory 1
SD - Sudan 1
Totale 8.605
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Città #
Singapore 671
Chandler 292
Moscow 280
Ashburn 233
Hong Kong 201
Beijing 187
Naples 135
Santa Clara 133
Napoli 132
Hefei 115
Amsterdam 105
Jacksonville 105
San Jose 84
Los Angeles 83
Millbury 79
Boston 61
Princeton 58
Ho Chi Minh City 55
Buffalo 50
Nanjing 45
Munich 42
Rome 41
Hanoi 39
Dallas 36
Dong Ket 36
New York 36
São Paulo 35
Milan 33
Des Moines 29
Wilmington 28
Helsinki 27
The Dalles 26
Redondo Beach 25
Turku 25
Denver 24
Seoul 21
Warsaw 21
Houston 19
Chennai 17
Frankfurt am Main 16
Lawrence 16
Mexico City 16
Washington 16
Woodbridge 16
Atlanta 15
Lappeenranta 15
London 15
Ottawa 15
Bologna 14
Phoenix 14
Redwood City 14
Düsseldorf 13
Tokyo 13
Cagliari 12
Caserta 12
Montreal 12
Tianjin 12
Brooklyn 11
Falkenstein 11
Nuremberg 11
Poplar 11
Ann Arbor 10
Boardman 10
Changsha 10
Chicago 10
Ercolano 10
Johannesburg 10
Kochi 10
Kronberg 10
Nanchang 10
Nola 10
Orem 10
Baghdad 9
Geneva 9
Hebei 9
Nocera Superiore 9
Palermo 9
Seattle 9
Stockholm 9
Bacoli 8
Manchester 8
Shenyang 8
Waanrode 8
Bari 7
Catania 7
Florence 7
Haiphong 7
Kunming 7
Lauterbourg 7
Mumbai 7
Norwalk 7
Salerno 7
San Francisco 7
Vienna 7
Ankara 6
Aversa 6
Berlin 6
Campinas 6
Frignano 6
Indiana 6
Totale 4.282
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Nome #
DEGENERAZIONI RETINICHE EREDITARIE: GENETICA MOLECOLARE DELLE RETINITI PIGMENTOSE DOMINANTI E DELLA COROIDEREMIA 446
A novel mutation in RP1 is a major cause of autosomal dominant retinitis pigmentosa in Southern Italy. 155
Intranuclear Signaling Cascades Triggered by Nuclear GPCRs 151
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. 147
14-3-3 theta, a direct interactor of AF4, influences HOXA9 expression in RS4;11 leukemia cell line. 146
Formyl-Peptide Receptor 2 Signaling Modulates SLC7A11/xCT Expression and Activity in Tumor Cells 145
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis 130
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 129
Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. 125
A sporadic case of hemophilia A detected by RFLP analysis 122
Formyl-peptide receptor 2 signalling triggers aerobic metabolism of glucose through Nox2-dependent modulation of pyruvate dehydrogenase activity 121
Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child 121
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients 121
Phosphoproteomic analysis sheds light on intracellular signaling cascades triggered by Formyl-Peptide Receptor 2 119
Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature 117
Formyl Peptide Receptor 1 Modulates Endothelial Cell Functions by NADPH Oxidase-Dependent VEGFR2 Transactivation 115
SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss 112
Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing 112
A sporadic case of hemophilia A detected by RFLP analysis 109
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance 109
Comprehensive molecular analysis of DMD gene increases the diagnostic value of dystrophinopathies: A pilot study in a southern Italy cohort of patients 109
Formyl-Peptide Receptor 2 Signaling Redirects Glucose and Glutamine into Anabolic Pathways in Metabolic Reprogramming of Lung Cancer Cells 107
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 107
Analisi del ruolo di interattori molecolari AF4-specifici nella funzione aberrante dell’oncoproteina chimerica MLL-AF4 107
MiR‐27a downregulates 14‐3‐3θ, RUNX1, AF4, and MLL‐AF4, crucial drivers of blast transformation in t(4;11) leukemia cells 106
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab 105
Identification of two mutation within the transglutaminase 1 gene patients with lamellar ichthyosis. 105
MLL-AF4 oncoprotein up-regulates fibroblast growth factor receptor 2 (FGFR2) gene expression in hematopoietic progenitor cells 105
14-3-3 θ over-expression increases both the cytosolic amount of AF4 and the expression levels of its target genes. 105
Pro-Resolving FPR2 Agonists Regulate NADPH Oxidase-Dependent Phosphorylation of HSP27, OSR1, and MARCKS and Activation of the Respective Upstream Kinases 105
The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene 104
Identificazione di interattori proteici di AF4, partner di traslocazione del gene MLL (Mixed Lineage Leukaemia) nelle leucemie acute 104
Interaction with 14-3-3 θ reduces AF4 transactivation function by inhibiting its nuclear translocation 101
Nuclear localization of Formyl-Peptide Receptor 2 in human cancer cells 101
Hereditary fructose intolerance and celiac disease: a novel genetic association 100
Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function 100
Characterization of the interactome of the proto-oncogene AF4 100
NOX Dependent ROS Generation and Cell Metabolism 99
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 99
Regulation of inflammation and oxidative stress by formyl peptide receptors in cardiovascular disease progression 99
SET-PP2A complex as a new therapeutic target in KMT2A (MLL) rearranged AML 98
NOX2-Dependent Reactive Oxygen Species Regulate Formyl-Peptide Receptor 1-Mediated TrkA Transactivation in SH-SY5Y Cells 98
Transglutaminase 1 Gene Mutations in Italian Patients with Autosomal Recessive Lamellar Ichthyosis 97
BBS1, BBS10 and BBS2 are major causative genes for Bardet-Biedl syndrome in Italian patients. 97
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies 96
Fisiopatologia molecolare di proteine coinvolte in pathways di regolazione genica cervello-specifica attraverso l'identificazione dei loro interattori macromolecolari 95
A study of aldolase B gene in patients with hereditary fructose intolerance 94
ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study 94
Analisi del ruolo funzionale di AF4, proteina coinvolta nella patogenesi molecolare della leucemia linfoblastica acuta, mediante l'identificazione di partners molecolari e geni target 90
Protein network study of human AF4 reveals its central role in the RNA Pol II-mediated transcription and in phosphorylation-dependent regulatory mechanisms. 89
Phosphorylation sites in protein kinases and phosphatases regulated by formyl peptide receptor 2 signaling 89
Molecular characterization of choroideremia-associated deletions reveals an unexpected regulation of CHM gene transcription 89
Rapid identification of beta-globin gene cluster mutations by a variety of PCR based procedures 87
A unique origin for the Sicilian (__)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis. 87
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. 87
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene 87
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion 86
Regulation of the aldolase C gene expression and studies of the aldolase B molecular alterations causing hereditary fructose intolerance 85
Formyl Peptide Receptor 2-Dependent cPLA2 and 5-LOX Activation Requires a Functional NADPH Oxidase 84
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene 84
Posters 84
Nuclear fgfr2 interacts with the mll-af4 oncogenic chimera and positively regulates hoxa9 gene expression in t(4;11) leukemia cells 84
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. 83
Rod and cone-mediated function in choroideremia carriers with mutations in the REP-1 gene 82
Interleukin-1 receptor-associated kinase 1 (IRAK1) and Heat shock protein 90 kDa alpha B1 (HSP90) are up-regulated by AF4. 81
Lamellar ichthyosis and arthrogryposis in a premature neonate 81
Screening fmr1 gene in patients with sporadic ataxia 80
Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation 80
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1 79
Fibroblast growth factor receptor 2 (FGFR2) is a potential activator of the MLL-AF4 leukemogenic protein. 77
A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient 76
Detection of beta-thalassemia mutations using the multiplex amplification refractory mutation system (MARMS) and the denaturing gradient gel electrophoresis (DGGE) 74
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily 72
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 70
A 15-year molecular analysis of Duchenne/Becker muscular dystrophy: genetic features in a large cohort 69
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 67
A unique origin for Sicilian (delta/beta)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis 67
CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia 66
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. 64
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at the arginine 303 in human liver aldolase 63
Molecular genetics of inborn errors of metabolism: the case of hereditary fructose intolerance and hyperphenylalaninemia 62
Diagnosi molecolare e prenatale di coroideremia 61
The molecular basis of hereditary fructose intolerance in italian children 59
From protein-protein interaction studies new potential therapeutic targets to treat the MLL-related acute lymphoblastic leukemias 59
Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies 56
The molecular basis of hereditary fructose intolerance in italian children 55
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy 42
null 34
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach 29
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance 28
Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives 24
Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs) 21
Spinal muscular atrophy in the era of newborn screening: how the classification could change 11
Totale 8.773
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Categoria #
all - tutte 27.485
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 27.485
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021178 0 0 0 0 0 0 38 14 33 17 32 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
2025/20263.228 546 407 466 538 970 192 109 0 0 0 0 0
Totale 8.773