IRIS
SCIMONE, Concetta
 Distribuzione geografica
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Continente #
EU - Europa 1.363
NA - Nord America 1.223
AS - Asia 227
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
SA - Sud America 1
Totale 2.817
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Nazione #
US - Stati Uniti d'America 1.216
IE - Irlanda 416
SE - Svezia 337
IT - Italia 244
CN - Cina 148
PL - Polonia 136
DE - Germania 79
SG - Singapore 37
BE - Belgio 34
GB - Regno Unito 31
FI - Finlandia 27
VN - Vietnam 15
NL - Olanda 13
IN - India 12
FR - Francia 11
CZ - Repubblica Ceca 9
RU - Federazione Russa 8
UA - Ucraina 8
JP - Giappone 7
CA - Canada 5
PH - Filippine 3
PK - Pakistan 3
AT - Austria 2
AU - Australia 2
MX - Messico 2
PT - Portogallo 2
CL - Cile 1
EU - Europa 1
GR - Grecia 1
IL - Israele 1
KR - Corea 1
LT - Lituania 1
LU - Lussemburgo 1
MD - Moldavia 1
NO - Norvegia 1
SI - Slovenia 1
Totale 2.817
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Città #
Dublin 416
Chandler 330
Nyköping 189
Messina 142
Warsaw 136
Ashburn 106
Beijing 72
Bremen 61
Princeton 56
Medford 53
Ann Arbor 50
Jacksonville 42
New York 39
Des Moines 38
Brussels 30
Boardman 26
Dearborn 24
Cambridge 22
Singapore 22
Lancaster 18
Dong Ket 15
Wilmington 15
Jinan 14
Ningbo 11
Woodbridge 11
Shenyang 10
Amsterdam 8
Hyderabad 7
Helsinki 6
Norwalk 6
Padova 6
San Mateo 6
Seattle 6
Washington 6
Pune 5
Rome 5
Ancona 4
Brno 4
Catania 4
Munich 4
Nanjing 4
Prague 4
Tianjin 4
Waanrode 4
Falls Church 3
Hangzhou 3
Hebei 3
Hefei 3
Islamabad 3
Lago 3
Lappeenranta 3
Paris 3
San Giovanni La Punta 3
Shanghai 3
Stockholm 3
Abbiategrasso 2
Atlanta 2
Borghetto Santo Spirito 2
Brooklyn 2
Changsha 2
Durham 2
Edinburgh 2
Enna 2
Ferrandina 2
Lanzhou 2
Lisbon 2
Los Angeles 2
Manila 2
Mineo 2
Odesa 2
Perugia 2
Piazza Armerina 2
Redwood City 2
Salerno 2
Taiyuan 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
Jiaxing 1
Leechburg 1
Ljubljana 1
London 1
Longyan 1
Malfa 1
Mcallen 1
Melbourne 1
Totale 2.143
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Nome #
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. 104
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms in Italian patients with sporadic cerebral cavernous malformations: a pilot study 95
GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population 94
miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions 91
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: A case-control study. 90
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance 82
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens 80
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 80
Down-expression of RHO gene in Egyptian patient with three regulative region variants could lead to retinitis punctata albescens phenotype 75
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin 75
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations 70
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations 70
FMO3 allelic variants in a Mediterranean population frequency and linkage analysis. 65
A MOLECULAR- GENETIC ANALYSIS OF FLAVIN-CONTAINING MONOOXYGENASE3 GENE (FMO3) IN AN ITALIAN CHILD WITH A TMAURIA LIKE-PHENOTYPE 64
Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa 64
Molecular analysis of CCM genes promoter regions 59
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations 58
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations 56
Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies 54
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis 54
Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells 53
Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: A pilot study 52
Gut-Brain Axis Cross-Talk and Limbic Disorders as BiologicalBasis of Secondary TMAU 52
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report 51
First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation 51
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 51
Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations 49
Advances in Bioinformatics, Biostatistics and Omic Sciences 49
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients 48
N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells 48
Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes 47
New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype? 46
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa 45
Novel Insights into RPGR Exon ORF15: Could G-Quadruplex Folding Lead to Challenging Sequencing? 43
Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations 42
Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells 42
NOVEL PDCD10 PROMOTER VARIANTS IN PATIENTS WITH CEREBRAL CAVERNOUSMALFORMATIONS 39
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 39
Oxidative Stress and the Neurovascular Unit 39
Aged fingerprints for DNA profile: First report of successful typing 38
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation? 36
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis 36
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline 36
Two non-homologous co-regulated genes PDCD10 and SERPINI1: any possible related function? 36
A rare case of TMAU associated with suspected Currarino triad 35
Quantification of trimethylamine (TMA) and trimethylamine oxide (TMAO) for diagnostic and targeted diet purposes. 34
Pedigree analysis of a family affected by hereditary cerebral cavernous malformations novel candidate genes detected by whole genome sequencing 32
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling 32
Editome landscape of CCM-derived endothelial cells 31
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs 31
Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis 28
Transcriptome wide investigation of parent-of-origin expressed genes in mule (horse x donkey) by next-generation semiconductor-based sequencing 28
PON I and GLO I Gene Polymorphisms and Their Association with Breast Cancer: A Case-Control Study in a Population from Southern Italy 28
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 27
Trimethylaminuria: do abnormal chaperons play a pathogenic role? 24
Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration 23
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VARIANTS OF THE MOLECULAR CHAPERONE HSPA8 AND HSPA1A GENES IN TRIMETHYLAMINURIA: A PILOT STUDY 22
ON MACHINE LEARNING IN BIOMEDICINE 22
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells 19
NOVEL GENES INVOLVED IN ETIOPATHOGENESIS OF RETINITIS PIGMENTOSA ORPHANFORMS 18
Advances in Bioinformatics, Biostatistics and Omic Sciences 17
null 11
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment 10
Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration 8
Human retinal secretome: A cross-link between mesenchymal and retinal cells 8
How Many Alzheimer–Perusini’s Atypical Forms Do We Still Have to Discover? 6
From powerhouse to regulator: The role of mitoepigenetics in mitochondrion-related cellular functions and human diseases 5
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Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini’s Disease and Retinal Dystrophies 2
Totale 3.075
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Categoria #
all - tutte 12.884
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 12.884
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020211 7 1 1 3 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
2022/20231.262 83 109 57 110 112 117 13 87 523 2 43 6
2023/2024419 27 54 14 48 38 90 3 25 1 16 16 87
2024/202540 40 0 0 0 0 0 0 0 0 0 0 0
Totale 3.075