IRIS
SCIMONE, Concetta
 Distribuzione geografica
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Continente #
EU - Europa 3.682
NA - Nord America 3.018
AS - Asia 1.903
SA - Sud America 600
Continente sconosciuto - Info sul continente non disponibili 359
AF - Africa 59
OC - Oceania 4
Totale 9.625
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Nazione #
US - Stati Uniti d'America 2.919
RU - Federazione Russa 1.805
SG - Singapore 819
CN - Cina 511
BR - Brasile 491
IE - Irlanda 425
IT - Italia 398
SE - Svezia 339
HK - Hong Kong 225
DE - Germania 178
PL - Polonia 158
VN - Vietnam 103
FR - Francia 83
GB - Regno Unito 72
FI - Finlandia 64
IN - India 47
CA - Canada 45
AR - Argentina 35
BE - Belgio 35
ID - Indonesia 31
MX - Messico 30
BD - Bangladesh 28
NL - Olanda 27
TR - Turchia 25
EC - Ecuador 23
AT - Austria 19
JP - Giappone 19
CZ - Repubblica Ceca 18
ZA - Sudafrica 18
IQ - Iraq 15
CO - Colombia 13
VE - Venezuela 13
CL - Cile 12
ES - Italia 12
PK - Pakistan 12
UA - Ucraina 12
PH - Filippine 10
LT - Lituania 9
PY - Paraguay 9
UZ - Uzbekistan 9
IL - Israele 7
MA - Marocco 7
EG - Egitto 6
TH - Thailandia 6
TN - Tunisia 6
CR - Costa Rica 5
GR - Grecia 5
JM - Giamaica 5
KE - Kenya 5
SA - Arabia Saudita 5
DO - Repubblica Dominicana 4
DZ - Algeria 4
MY - Malesia 4
PT - Portogallo 4
AE - Emirati Arabi Uniti 3
AU - Australia 3
CI - Costa d'Avorio 3
ET - Etiopia 3
GT - Guatemala 3
LV - Lettonia 3
OM - Oman 3
UY - Uruguay 3
AZ - Azerbaigian 2
BY - Bielorussia 2
EE - Estonia 2
HN - Honduras 2
HR - Croazia 2
KH - Cambogia 2
KR - Corea 2
KZ - Kazakistan 2
MD - Moldavia 2
NI - Nicaragua 2
NO - Norvegia 2
NP - Nepal 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
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
NR - Nauru 1
PR - Porto Rico 1
PS - Palestinian Territory 1
RS - Serbia 1
SI - Slovenia 1
Totale 9.266
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Città #
Ashburn 570
Moscow 547
Singapore 486
Dublin 424
Dallas 339
Chandler 323
Hong Kong 223
Messina 202
Nyköping 185
San Jose 183
Beijing 178
Warsaw 151
The Dalles 117
Los Angeles 74
New York 74
Munich 71
Bremen 60
Princeton 56
Lauterbourg 55
Medford 53
Ann Arbor 51
Jacksonville 43
Des Moines 39
São Paulo 38
Santa Clara 35
Brussels 31
Redondo Beach 30
Ho Chi Minh City 29
Orem 27
Council Bluffs 26
Boardman 25
Dearborn 24
Buffalo 22
Cambridge 22
Jakarta 21
Turku 20
Helsinki 19
Lancaster 19
Montreal 19
Brooklyn 17
Tianjin 17
Amsterdam 15
Dong Ket 15
Hanoi 15
Mexico City 15
Rio de Janeiro 15
Rome 15
Wilmington 15
Belo Horizonte 14
Jinan 14
Tokyo 14
Atlanta 13
London 13
San Francisco 13
Milan 12
Ningbo 12
Catania 11
Chennai 11
Frankfurt am Main 11
Shanghai 11
Woodbridge 11
Düsseldorf 10
Houston 10
Phoenix 10
Shenyang 10
Brasília 9
Denver 9
Guangzhou 9
Manchester 9
Nuremberg 9
Quito 9
Seattle 9
São José dos Campos 9
Toronto 9
Vienna 9
Johannesburg 8
Shenzhen 8
Stockholm 8
Washington 8
Baghdad 7
Chicago 7
Hyderabad 7
Lappeenranta 7
Olomouc 7
Porto Alegre 7
Prague 7
Ankara 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 5.498
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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 264
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: A case-control study. 240
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin 237
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. 235
GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population 211
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens 208
Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes 194
A MOLECULAR- GENETIC ANALYSIS OF FLAVIN-CONTAINING MONOOXYGENASE3 GENE (FMO3) IN AN ITALIAN CHILD WITH A TMAURIA LIKE-PHENOTYPE 187
Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa 187
Aged fingerprints for DNA profile: First report of successful typing 182
Advances in Bioinformatics, Biostatistics and Omic Sciences 182
miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions 179
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations 176
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 173
Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: A pilot study 169
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells 164
Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies 162
FMO3 allelic variants in a Mediterranean population frequency and linkage analysis. 159
Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration 156
A rare case of TMAU associated with suspected Currarino triad 156
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations 154
Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations 152
New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype? 152
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms in Italian patients with sporadic cerebral cavernous malformations: a pilot study 152
Editome landscape of CCM-derived endothelial cells 148
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance 147
Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells 146
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations 141
Gut-Brain Axis Cross-Talk and Limbic Disorders as BiologicalBasis of Secondary TMAU 141
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients 140
Two non-homologous co-regulated genes PDCD10 and SERPINI1: any possible related function? 134
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis 132
Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells 128
Oxidative Stress and the Neurovascular Unit 126
NOVEL PDCD10 PROMOTER VARIANTS IN PATIENTS WITH CEREBRAL CAVERNOUSMALFORMATIONS 125
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations 125
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 119
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs 119
Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini’s Disease and Retinal Dystrophies 118
Molecular analysis of CCM genes promoter regions 116
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline 115
Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis 112
N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells 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 111
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling 111
Pedigree analysis of a family affected by hereditary cerebral cavernous malformations novel candidate genes detected by whole genome sequencing 109
From powerhouse to regulator: The role of mitoepigenetics in mitochondrion-related cellular functions and human diseases 108
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa 107
First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation 105
PON I and GLO I Gene Polymorphisms and Their Association with Breast Cancer: A Case-Control Study in a Population from Southern Italy 104
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis 103
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment 100
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report 100
Novel Insights into RPGR Exon ORF15: Could G-Quadruplex Folding Lead to Challenging Sequencing? 95
Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations 95
NOVEL GENES INVOLVED IN ETIOPATHOGENESIS OF RETINITIS PIGMENTOSA ORPHANFORMS 88
Quantification of trimethylamine (TMA) and trimethylamine oxide (TMAO) for diagnostic and targeted diet purposes. 87
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 87
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation? 86
Transcriptome wide investigation of parent-of-origin expressed genes in mule (horse x donkey) by next-generation semiconductor-based sequencing 85
Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity 81
VARIANTS OF THE MOLECULAR CHAPERONE HSPA8 AND HSPA1A GENES IN TRIMETHYLAMINURIA: A PILOT STUDY 80
Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy. 78
The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis 77
Trimethylaminuria: do abnormal chaperons play a pathogenic role? 75
Exploring Trimethylaminuria: Genetics andMolecularMechanisms, Epidemiology, and Emerging Therapeutic Strategies 67
ON MACHINE LEARNING IN BIOMEDICINE 65
Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration 64
Human retinal secretome: A cross-link between mesenchymal and retinal cells 63
How Many Alzheimer–Perusini’s Atypical Forms Do We Still Have to Discover? 61
First report of PDCD10 somatic mutation in liver cavernous malformation 57
QMR® and Patient Blood-Derived Secretome Modulate RPE microRNA Networks Under Oxidative Stress 54
Methylome analysis of endothelial cells suggests new insights on sporadic brain arteriovenous malformation 52
Multifaceted disruption of AMPA receptor signaling by CACNG8 variants: Integrated evidence from human genetics and molecular simulation 49
Nel labirinto delle distrofie retiniche ereditarie: alla scoperta delle Terapie innovative e delle visioni del futuro 37
Mechanotransduction in development: a focus on angiogenesis 32
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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. 22
Circulating lncRNAs Remark Expression Profile of Cerebrovascular Malformation Endothelial Cells 17
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Totale 9.625
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Categoria #
all - tutte 33.099
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 33.099
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022468 0 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
2025/20264.800 206 287 431 312 396 948 636 533 587 274 94 96
2026/2027102 98 4 0 0 0 0 0 0 0 0 0 0
Totale 9.625