IRIS
SCIMONE, Concetta
 Distribuzione geografica
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Continente #
EU - Europa 1.413
NA - Nord America 1.224
AS - Asia 415
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
SA - Sud America 1
Totale 3.056
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Nazione #
US - Stati Uniti d'America 1.216
IE - Irlanda 419
SE - Svezia 333
IT - Italia 273
SG - Singapore 190
CN - Cina 159
PL - Polonia 136
DE - Germania 84
FI - Finlandia 39
BE - Belgio 34
GB - Regno Unito 32
ID - Indonesia 18
NL - Olanda 15
VN - Vietnam 15
IN - India 12
FR - Francia 10
CZ - Repubblica Ceca 9
RU - Federazione Russa 8
UA - Ucraina 8
JP - Giappone 7
CA - Canada 5
MX - Messico 3
PH - Filippine 3
PK - Pakistan 3
TH - Thailandia 3
AT - Austria 2
AU - Australia 2
IL - Israele 2
LT - Lituania 2
PT - Portogallo 2
TW - Taiwan 2
BG - Bulgaria 1
BY - Bielorussia 1
CL - Cile 1
EU - Europa 1
GR - Grecia 1
KR - Corea 1
LU - Lussemburgo 1
MD - Moldavia 1
NO - Norvegia 1
SI - Slovenia 1
Totale 3.056
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Città #
Dublin 419
Chandler 323
Nyköping 185
Messina 158
Singapore 153
Warsaw 136
Ashburn 106
Beijing 73
Bremen 60
Princeton 56
Medford 53
Ann Arbor 50
Jacksonville 42
New York 39
Des Moines 38
Brussels 30
Boardman 25
Dearborn 24
Cambridge 22
Helsinki 18
Jakarta 18
Lancaster 18
Dong Ket 15
Wilmington 15
Jinan 14
Ningbo 11
Woodbridge 11
Amsterdam 10
Munich 10
Shenyang 10
Rome 8
Catania 6
Hyderabad 6
Norwalk 6
Padova 6
San Mateo 6
Seattle 6
Washington 6
Los Angeles 5
Pune 5
Ancona 4
Brno 4
Nanjing 4
Prague 4
Shanghai 4
Tianjin 4
Waanrode 4
Changsha 3
Falls Church 3
Hangzhou 3
Hat Yai 3
Hebei 3
Hefei 3
Islamabad 3
Lago 3
Lappeenranta 3
San Giovanni La Punta 3
Stockholm 3
Taiyuan 3
Abbiategrasso 2
Atlanta 2
Borghetto Santo Spirito 2
Brooklyn 2
Durham 2
Edinburgh 2
Enna 2
Ferrandina 2
Lanzhou 2
Lisbon 2
London 2
Manila 2
Milan 2
Mineo 2
Odesa 2
Palagiano 2
Paris 2
Perugia 2
Piazza Armerina 2
Redwood City 2
Salerno 2
Shijiazhuang 2
Taipei 2
Tel Aviv 2
Tokyo 2
Toronto 2
Trento 2
Vienna 2
Athens 1
Auburn Hills 1
Baltimore 1
Caldaro 1
Clearwater 1
Dallas 1
Davao City 1
Fremont 1
Fuzhou 1
Guangzhou 1
Houston 1
Iowa City 1
Islington 1
Totale 2.335
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Nome #
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. 109
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: A case-control study. 98
GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population 98
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms in Italian patients with sporadic cerebral cavernous malformations: a pilot study 96
miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions 94
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance 90
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 86
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens 82
Down-expression of RHO gene in Egyptian patient with three regulative region variants could lead to retinitis punctata albescens phenotype 82
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin 80
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations 72
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations 72
FMO3 allelic variants in a Mediterranean population frequency and linkage analysis. 67
A MOLECULAR- GENETIC ANALYSIS OF FLAVIN-CONTAINING MONOOXYGENASE3 GENE (FMO3) IN AN ITALIAN CHILD WITH A TMAURIA LIKE-PHENOTYPE 67
Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa 66
Advances in Bioinformatics, Biostatistics and Omic Sciences 66
Molecular analysis of CCM genes promoter regions 61
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations 61
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations 61
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis 58
Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies 56
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 55
Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells 55
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report 54
Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: A pilot study 54
Gut-Brain Axis Cross-Talk and Limbic Disorders as BiologicalBasis of Secondary TMAU 54
N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells 54
Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes 54
First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation 52
Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations 51
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients 49
New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype? 49
Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations 46
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa 46
Novel Insights into RPGR Exon ORF15: Could G-Quadruplex Folding Lead to Challenging Sequencing? 45
Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells 43
A rare case of TMAU associated with suspected Currarino triad 43
Aged fingerprints for DNA profile: First report of successful typing 43
Oxidative Stress and the Neurovascular Unit 43
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 42
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline 42
NOVEL PDCD10 PROMOTER VARIANTS IN PATIENTS WITH CEREBRAL CAVERNOUSMALFORMATIONS 40
Editome landscape of CCM-derived endothelial cells 39
Pedigree analysis of a family affected by hereditary cerebral cavernous malformations novel candidate genes detected by whole genome sequencing 39
Quantification of trimethylamine (TMA) and trimethylamine oxide (TMAO) for diagnostic and targeted diet purposes. 38
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling 38
Two non-homologous co-regulated genes PDCD10 and SERPINI1: any possible related function? 38
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation? 37
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis 37
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs 33
Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis 32
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 32
Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration 31
Transcriptome wide investigation of parent-of-origin expressed genes in mule (horse x donkey) by next-generation semiconductor-based sequencing 30
PON I and GLO I Gene Polymorphisms and Their Association with Breast Cancer: A Case-Control Study in a Population from Southern Italy 29
Trimethylaminuria: do abnormal chaperons play a pathogenic role? 26
ON MACHINE LEARNING IN BIOMEDICINE 24
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VARIANTS OF THE MOLECULAR CHAPERONE HSPA8 AND HSPA1A GENES IN TRIMETHYLAMINURIA: A PILOT STUDY 23
NOVEL GENES INVOLVED IN ETIOPATHOGENESIS OF RETINITIS PIGMENTOSA ORPHANFORMS 23
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells 22
Human retinal secretome: A cross-link between mesenchymal and retinal cells 18
The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis 17
From powerhouse to regulator: The role of mitoepigenetics in mitochondrion-related cellular functions and human diseases 14
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment 13
How Many Alzheimer–Perusini’s Atypical Forms Do We Still Have to Discover? 11
Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration 11
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Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini’s Disease and Retinal Dystrophies 4
Methylome analysis of endothelial cells suggests new insights on sporadic brain arteriovenous malformation 4
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Totale 3.336
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Categoria #
all - tutte 15.415
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 15.415
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020199 0 0 0 0 0 25 12 7 5 79 54 17
2020/2021399 50 25 40 20 60 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
2024/2025318 46 22 54 117 79 0 0 0 0 0 0 0
Totale 3.336