IRIS
SCIMONE, Concetta
 Distribuzione geografica
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Continente #
NA - Nord America 2.277
EU - Europa 1.770
AS - Asia 1.405
SA - Sud America 537
AF - Africa 43
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.036
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Nazione #
US - Stati Uniti d'America 2.215
SG - Singapore 618
BR - Brasile 455
IE - Irlanda 420
IT - Italia 354
CN - Cina 349
SE - Svezia 339
HK - Hong Kong 210
DE - Germania 166
PL - Polonia 155
VN - Vietnam 80
FI - Finlandia 64
GB - Regno Unito 61
RU - Federazione Russa 46
BE - Belgio 35
AR - Argentina 28
CA - Canada 27
FR - Francia 26
IN - India 25
ID - Indonesia 23
MX - Messico 23
NL - Olanda 23
TR - Turchia 19
CZ - Repubblica Ceca 18
EC - Ecuador 17
ZA - Sudafrica 17
JP - Giappone 16
AT - Austria 15
BD - Bangladesh 10
CL - Cile 10
IQ - Iraq 10
UA - Ucraina 10
ES - Italia 9
UZ - Uzbekistan 9
VE - Venezuela 9
CO - Colombia 7
LT - Lituania 7
PK - Pakistan 7
PY - Paraguay 7
EG - Egitto 5
GR - Grecia 5
IL - Israele 5
TN - Tunisia 5
CR - Costa Rica 4
PH - Filippine 4
DO - Repubblica Dominicana 3
DZ - Algeria 3
JM - Giamaica 3
KE - Kenya 3
LV - Lettonia 3
PT - Portogallo 3
TH - Thailandia 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
AU - Australia 2
BY - Bielorussia 2
CI - Costa d'Avorio 2
KH - Cambogia 2
KR - Corea 2
MA - Marocco 2
MD - Moldavia 2
NO - Norvegia 2
SA - Arabia Saudita 2
SN - Senegal 2
TW - Taiwan 2
AO - Angola 1
AZ - Azerbaigian 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CG - Congo 1
CH - Svizzera 1
DJ - Gibuti 1
EU - Europa 1
HN - Honduras 1
HR - Croazia 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LU - Lussemburgo 1
MN - Mongolia 1
NG - Nigeria 1
NR - Nauru 1
PA - Panama 1
SI - Slovenia 1
Totale 6.036
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Città #
Dublin 420
Dallas 332
Singapore 325
Ashburn 323
Chandler 323
Hong Kong 208
Messina 195
Nyköping 185
Beijing 163
Warsaw 148
The Dalles 78
Munich 71
New York 61
Bremen 60
Los Angeles 60
Princeton 56
Medford 53
Ann Arbor 50
Jacksonville 42
Des Moines 38
São Paulo 35
Brussels 31
Redondo Beach 30
Boardman 25
Dearborn 24
Ho Chi Minh City 24
Cambridge 22
Turku 20
Buffalo 19
Helsinki 19
Jakarta 19
Lancaster 18
Brooklyn 16
Dong Ket 15
Wilmington 15
Amsterdam 14
Hanoi 14
Jinan 14
Moscow 14
Rome 14
Belo Horizonte 13
Rio de Janeiro 13
Ningbo 12
Santa Clara 12
Catania 11
London 11
Montreal 11
Tokyo 11
Woodbridge 11
Atlanta 10
Düsseldorf 10
Shenyang 10
Tianjin 10
Brasília 9
Mexico City 9
San Francisco 9
Seattle 9
São José dos Campos 9
Vienna 9
Johannesburg 8
Phoenix 8
Stockholm 8
Denver 7
Lappeenranta 7
Lauterbourg 7
Nuremberg 7
Olomouc 7
Porto Alegre 7
Prague 7
Quito 7
Toronto 7
Washington 7
Ankara 6
Chennai 6
Hyderabad 6
Milan 6
Norwalk 6
Orem 6
Padova 6
San Mateo 6
Tashkent 6
Baghdad 5
Changsha 5
Columbus 5
Contagem 5
Guayaquil 5
Houston 5
Manaus 5
Poplar 5
Portsmouth 5
Pune 5
Salvador 5
Shanghai 5
Syracuse 5
Ancona 4
Biên Hòa 4
Brno 4
Canoas 4
Chicago 4
Curitiba 4
Totale 4.029
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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 180
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. 171
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: A case-control study. 159
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin 154
GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population 145
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens 141
miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions 137
A MOLECULAR- GENETIC ANALYSIS OF FLAVIN-CONTAINING MONOOXYGENASE3 GENE (FMO3) IN AN ITALIAN CHILD WITH A TMAURIA LIKE-PHENOTYPE 128
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 127
Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes 127
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms in Italian patients with sporadic cerebral cavernous malformations: a pilot study 123
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations 119
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations 118
Advances in Bioinformatics, Biostatistics and Omic Sciences 117
Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa 115
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance 115
FMO3 allelic variants in a Mediterranean population frequency and linkage analysis. 114
Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies 111
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations 110
New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype? 110
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells 108
Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: A pilot study 104
Aged fingerprints for DNA profile: First report of successful typing 101
Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells 100
Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations 99
Editome landscape of CCM-derived endothelial cells 99
A rare case of TMAU associated with suspected Currarino triad 99
Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration 98
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients 98
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations 95
Molecular analysis of CCM genes promoter regions 92
Gut-Brain Axis Cross-Talk and Limbic Disorders as BiologicalBasis of Secondary TMAU 91
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis 89
Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells 88
N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells 88
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline 85
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 84
Oxidative Stress and the Neurovascular Unit 84
First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation 83
Two non-homologous co-regulated genes PDCD10 and SERPINI1: any possible related function? 82
NOVEL PDCD10 PROMOTER VARIANTS IN PATIENTS WITH CEREBRAL CAVERNOUSMALFORMATIONS 81
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 80
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report 78
Pedigree analysis of a family affected by hereditary cerebral cavernous malformations novel candidate genes detected by whole genome sequencing 74
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa 74
Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations 73
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs 72
PON I and GLO I Gene Polymorphisms and Their Association with Breast Cancer: A Case-Control Study in a Population from Southern Italy 71
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling 71
Novel Insights into RPGR Exon ORF15: Could G-Quadruplex Folding Lead to Challenging Sequencing? 70
Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis 68
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis 68
Quantification of trimethylamine (TMA) and trimethylamine oxide (TMAO) for diagnostic and targeted diet purposes. 65
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 65
Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini’s Disease and Retinal Dystrophies 64
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment 62
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation? 60
Transcriptome wide investigation of parent-of-origin expressed genes in mule (horse x donkey) by next-generation semiconductor-based sequencing 60
NOVEL GENES INVOLVED IN ETIOPATHOGENESIS OF RETINITIS PIGMENTOSA ORPHANFORMS 57
From powerhouse to regulator: The role of mitoepigenetics in mitochondrion-related cellular functions and human diseases 52
Trimethylaminuria: do abnormal chaperons play a pathogenic role? 50
ON MACHINE LEARNING IN BIOMEDICINE 48
Human retinal secretome: A cross-link between mesenchymal and retinal cells 46
VARIANTS OF THE MOLECULAR CHAPERONE HSPA8 AND HSPA1A GENES IN TRIMETHYLAMINURIA: A PILOT STUDY 46
The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis 42
Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration 38
How Many Alzheimer–Perusini’s Atypical Forms Do We Still Have to Discover? 37
Methylome analysis of endothelial cells suggests new insights on sporadic brain arteriovenous malformation 30
First report of PDCD10 somatic mutation in liver cavernous malformation 30
Exploring Trimethylaminuria: Genetics andMolecularMechanisms, Epidemiology, and Emerging Therapeutic Strategies 28
Mechanotransduction in development: a focus on angiogenesis 24
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Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy. 20
Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity 17
Nel labirinto delle distrofie retiniche ereditarie: alla scoperta delle Terapie innovative e delle visioni del futuro 16
QMR® and Patient Blood-Derived Secretome Modulate RPE microRNA Networks Under Oxidative Stress 13
Multifaceted disruption of AMPA receptor signaling by CACNG8 variants: Integrated evidence from human genetics and molecular simulation 12
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Totale 6.388
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Categoria #
all - tutte 25.478
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 25.478
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021204 0 0 0 0 0 16 35 11 36 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
2025/20261.665 206 287 431 312 396 33 0 0 0 0 0 0
Totale 6.388