IRIS
SCIMONE, Concetta
 Distribuzione geografica
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Continente #
EU - Europa 3.646
NA - Nord America 2.796
AS - Asia 1.837
SA - Sud America 597
AF - Africa 59
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.940
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Nazione #
US - Stati Uniti d'America 2.724
RU - Federazione Russa 1.805
SG - Singapore 804
BR - Brasile 490
CN - Cina 478
IE - Irlanda 424
IT - Italia 372
SE - Svezia 339
HK - Hong Kong 224
DE - Germania 178
PL - Polonia 157
VN - Vietnam 101
FR - Francia 83
GB - Regno Unito 70
FI - Finlandia 64
IN - India 46
BE - Belgio 35
AR - Argentina 34
CA - Canada 29
ID - Indonesia 29
MX - Messico 28
TR - Turchia 25
NL - Olanda 24
BD - Bangladesh 23
EC - Ecuador 23
AT - Austria 19
CZ - Repubblica Ceca 18
JP - Giappone 18
ZA - Sudafrica 18
IQ - Iraq 15
CO - Colombia 13
CL - Cile 12
ES - Italia 12
PK - Pakistan 12
VE - Venezuela 12
UA - Ucraina 11
LT - Lituania 9
PH - Filippine 9
PY - Paraguay 9
UZ - Uzbekistan 9
IL - Israele 7
MA - Marocco 7
EG - Egitto 6
TN - Tunisia 6
GR - Grecia 5
KE - Kenya 5
SA - Arabia Saudita 5
TH - Thailandia 5
CR - Costa Rica 4
DO - Repubblica Dominicana 4
DZ - Algeria 4
PT - Portogallo 4
AU - Australia 3
CI - Costa d'Avorio 3
ET - Etiopia 3
JM - Giamaica 3
LV - Lettonia 3
OM - Oman 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
BY - Bielorussia 2
HR - Croazia 2
KH - Cambogia 2
KR - Corea 2
KZ - Kazakistan 2
MD - Moldavia 2
MY - Malesia 2
NO - Norvegia 2
PA - Panama 2
SN - Senegal 2
TW - Taiwan 2
AL - Albania 1
AO - Angola 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CG - Congo 1
CH - Svizzera 1
DJ - Gibuti 1
EU - Europa 1
GA - Gabon 1
GE - Georgia 1
HN - Honduras 1
KG - Kirghizistan 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LU - Lussemburgo 1
MN - Mongolia 1
NG - Nigeria 1
NI - Nicaragua 1
NP - Nepal 1
NR - Nauru 1
PS - Palestinian Territory 1
RS - Serbia 1
SI - Slovenia 1
SY - Repubblica araba siriana 1
Totale 8.940
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Città #
Moscow 547
Ashburn 534
Singapore 482
Dublin 424
Dallas 334
Chandler 323
Hong Kong 222
Messina 196
Nyköping 185
Beijing 175
Warsaw 150
San Jose 140
The Dalles 117
Munich 71
New York 70
Los Angeles 67
Bremen 60
Princeton 56
Lauterbourg 55
Medford 53
Ann Arbor 51
Jacksonville 43
Des Moines 39
São Paulo 38
Brussels 31
Redondo Beach 30
Ho Chi Minh City 28
Orem 27
Boardman 25
Dearborn 24
Council Bluffs 23
Cambridge 22
Jakarta 21
Buffalo 20
Turku 20
Helsinki 19
Lancaster 18
Santa Clara 18
Brooklyn 17
Tianjin 17
Amsterdam 15
Dong Ket 15
Hanoi 15
Rio de Janeiro 15
Wilmington 15
Belo Horizonte 14
Jinan 14
Mexico City 14
Rome 14
Tokyo 13
London 12
Montreal 12
Ningbo 12
Atlanta 11
Catania 11
Chennai 11
Frankfurt am Main 11
Shanghai 11
Woodbridge 11
Düsseldorf 10
San Francisco 10
Shenyang 10
Brasília 9
Guangzhou 9
Manchester 9
Milan 9
Nuremberg 9
Phoenix 9
Quito 9
Seattle 9
São José dos Campos 9
Vienna 9
Denver 8
Houston 8
Johannesburg 8
Shenzhen 8
Stockholm 8
Baghdad 7
Hyderabad 7
Lappeenranta 7
Olomouc 7
Porto Alegre 7
Prague 7
Toronto 7
Washington 7
Ankara 6
Chicago 6
Norwalk 6
Padova 6
Poplar 6
Pune 6
San Mateo 6
Tashkent 6
Changsha 5
Columbus 5
Contagem 5
Curitiba 5
Guayaquil 5
Istanbul 5
Manaus 5
Totale 5.337
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Nome #
Down-expression of RHO gene in Egyptian patient with three regulative region variants could lead to retinitis punctata albescens phenotype 260
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin 235
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: A case-control study. 234
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. 232
GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population 208
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens 203
Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes 191
A MOLECULAR- GENETIC ANALYSIS OF FLAVIN-CONTAINING MONOOXYGENASE3 GENE (FMO3) IN AN ITALIAN CHILD WITH A TMAURIA LIKE-PHENOTYPE 185
Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa 181
miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions 179
Advances in Bioinformatics, Biostatistics and Omic Sciences 178
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations 171
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 171
Aged fingerprints for DNA profile: First report of successful typing 171
Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: A pilot study 168
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells 161
Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies 159
FMO3 allelic variants in a Mediterranean population frequency and linkage analysis. 155
A rare case of TMAU associated with suspected Currarino triad 153
Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations 150
Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration 149
New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype? 146
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms in Italian patients with sporadic cerebral cavernous malformations: a pilot study 146
Editome landscape of CCM-derived endothelial cells 145
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations 144
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance 143
Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells 142
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations 139
Gut-Brain Axis Cross-Talk and Limbic Disorders as BiologicalBasis of Secondary TMAU 138
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients 134
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis 129
Two non-homologous co-regulated genes PDCD10 and SERPINI1: any possible related function? 129
Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells 125
NOVEL PDCD10 PROMOTER VARIANTS IN PATIENTS WITH CEREBRAL CAVERNOUSMALFORMATIONS 123
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations 122
Oxidative Stress and the Neurovascular Unit 120
Molecular analysis of CCM genes promoter regions 115
Next generation semiconductor based sequencing of the donkey (Equus asinus) genome provided comparative sequence data against the horse genome and a few millions of single nucleotide polymorphisms 115
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs 115
Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini’s Disease and Retinal Dystrophies 113
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline 112
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data 108
Pedigree analysis of a family affected by hereditary cerebral cavernous malformations novel candidate genes detected by whole genome sequencing 108
N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells 107
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling 106
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa 105
Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis 104
First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation 101
PON I and GLO I Gene Polymorphisms and Their Association with Breast Cancer: A Case-Control Study in a Population from Southern Italy 99
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis 99
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report 96
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment 94
Novel Insights into RPGR Exon ORF15: Could G-Quadruplex Folding Lead to Challenging Sequencing? 93
Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations 93
From powerhouse to regulator: The role of mitoepigenetics in mitochondrion-related cellular functions and human diseases 90
Quantification of trimethylamine (TMA) and trimethylamine oxide (TMAO) for diagnostic and targeted diet purposes. 87
NOVEL GENES INVOLVED IN ETIOPATHOGENESIS OF RETINITIS PIGMENTOSA ORPHANFORMS 86
New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies 85
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation? 81
Transcriptome wide investigation of parent-of-origin expressed genes in mule (horse x donkey) by next-generation semiconductor-based sequencing 77
Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity 76
The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis 76
VARIANTS OF THE MOLECULAR CHAPERONE HSPA8 AND HSPA1A GENES IN TRIMETHYLAMINURIA: A PILOT STUDY 76
Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy. 75
Trimethylaminuria: do abnormal chaperons play a pathogenic role? 74
ON MACHINE LEARNING IN BIOMEDICINE 63
Exploring Trimethylaminuria: Genetics andMolecularMechanisms, Epidemiology, and Emerging Therapeutic Strategies 59
Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration 58
Human retinal secretome: A cross-link between mesenchymal and retinal cells 56
First report of PDCD10 somatic mutation in liver cavernous malformation 52
How Many Alzheimer–Perusini’s Atypical Forms Do We Still Have to Discover? 52
Methylome analysis of endothelial cells suggests new insights on sporadic brain arteriovenous malformation 47
Multifaceted disruption of AMPA receptor signaling by CACNG8 variants: Integrated evidence from human genetics and molecular simulation 47
QMR® and Patient Blood-Derived Secretome Modulate RPE microRNA Networks Under Oxidative Stress 47
Nel labirinto delle distrofie retiniche ereditarie: alla scoperta delle Terapie innovative e delle visioni del futuro 36
Mechanotransduction in development: a focus on angiogenesis 31
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Circulating lncRNAs Remark Expression Profile of Cerebrovascular Malformation Endothelial Cells 13
Combined exome and RNA-seq analysis in patients with rare non-syndromic inherited brain arteriovenous malformation suggests a novel function for PTPN13 in arterial specification. 11
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Totale 9.295
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Categoria #
all - tutte 29.950
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 29.950
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021106 0 0 0 0 0 0 0 0 0 60 25 21
2021/2022471 3 44 22 11 13 10 28 26 8 122 30 154
2022/20231.248 83 106 56 106 111 115 13 84 523 2 43 6
2023/2024416 27 54 14 48 38 90 3 25 1 14 16 86
2024/20251.705 46 22 54 117 85 60 90 330 370 115 166 250
2025/20264.572 206 287 431 312 396 948 636 533 587 236 0 0
Totale 9.295