IRIS
DONATO, Luigi
 Distribuzione geografica
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Continente #
EU - Europa 1.299
NA - Nord America 1.127
AS - Asia 176
AF - Africa 1
Continente sconosciuto - Info sul continente non disponibili 1
Totale 2.604
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Nazione #
US - Stati Uniti d'America 1.121
IE - Irlanda 376
SE - Svezia 298
IT - Italia 238
PL - Polonia 223
CN - Cina 135
DE - Germania 61
BE - Belgio 21
GB - Regno Unito 19
VN - Vietnam 18
FI - Finlandia 15
IN - India 10
FR - Francia 9
UA - Ucraina 9
NL - Olanda 8
RU - Federazione Russa 8
JP - Giappone 7
AT - Austria 6
CA - Canada 4
SG - Singapore 3
MT - Malta 2
MX - Messico 2
TR - Turchia 2
CH - Svizzera 1
EG - Egitto 1
EU - Europa 1
GR - Grecia 1
IL - Israele 1
LT - Lituania 1
LU - Lussemburgo 1
MD - Moldavia 1
NO - Norvegia 1
Totale 2.604
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Città #
Dublin 376
Chandler 318
Warsaw 223
Nyköping 174
Messina 115
Ashburn 109
Beijing 69
Princeton 53
Bremen 52
Medford 45
Des Moines 38
New York 38
Ann Arbor 37
Jacksonville 35
Brussels 19
Dong Ket 18
Dearborn 17
Wilmington 17
Cambridge 14
Jinan 12
Woodbridge 11
Shenyang 10
Lancaster 9
Ningbo 8
Rome 8
Falls Church 7
Seattle 7
Boardman 6
Hyderabad 6
Padova 6
Vienna 6
Amsterdam 5
Troina 5
Washington 5
Ancona 4
Cagliari 4
Catania 4
Hebei 4
Nanjing 4
Norwalk 4
Pune 4
Rosolini 4
Tianjin 4
Auburn Hills 3
Carini 3
Hangzhou 3
Helsinki 3
Lago 3
Los Angeles 3
Paris 3
San Mateo 3
Stockholm 3
Taiyuan 3
Atlanta 2
Edinburgh 2
Enna 2
Ferrandina 2
Guangzhou 2
Haikou 2
Houston 2
Istanbul 2
Lanzhou 2
Lappeenranta 2
Malfa 2
Mineo 2
Mountain View 2
Ottawa 2
Palma Campania 2
Perugia 2
Piazza Armerina 2
Pietà 2
Redwood City 2
Salerno 2
Santa Teresa Di Riva 2
Singapore 2
Tokyo 2
Trento 2
Waanrode 2
Athens 1
Brooklyn 1
Cairo 1
Caldaro 1
Changsha 1
Dallas 1
Fremont 1
Fuzhou 1
Hanover 1
Hefei 1
Iowa City 1
Islington 1
Jiaxing 1
London 1
Marche 1
Mcallen 1
Memphis 1
Meppel 1
Miami 1
Milan 1
Montreal 1
Nanchang 1
Totale 2.016
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Nome #
New omics approaches improving classification and personalized retinitis pigmentosa diagnosis 176
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. 104
The Combination of New Missense Mutation with [A(TA)7TAA] Dinucleotide Repeat in UGT1A1 Gene Promoter Causes Gilbert's Syndrome 102
GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population 94
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms in Italian patients with sporadic cerebral cavernous malformations: a pilot study 94
miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions 91
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance 82
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 80
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens 77
Bioinformatic analysis of a “functional cluster” probably related to retinitis pigmentosa 75
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin 73
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations 69
Down-expression of RHO gene in Egyptian patient with three regulative region variants could lead to retinitis punctata albescens phenotype 68
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations 67
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations 58
Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa 57
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations 52
First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation 50
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 50
Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: A pilot study 50
Gut-Brain Axis Cross-Talk and Limbic Disorders as BiologicalBasis of Secondary TMAU 50
Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations 49
N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells 48
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis 46
Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells 46
Advances in Bioinformatics, Biostatistics and Omic Sciences 46
Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes 45
Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies 43
Novel Insights into RPGR Exon ORF15: Could G-Quadruplex Folding Lead to Challenging Sequencing? 42
Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations 40
Nine differentially expressed genes from a post mortem study and their association with suicidal status in a sample of suicide completers, attempters and controls 40
Novel intronic variants in unconventional gene cluster could lead to Retinitis pigmentosa phenotype 40
New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype? 39
Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells 38
Oxidative Stress and the Neurovascular Unit 38
Aged fingerprints for DNA profile: First report of successful typing 37
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis 35
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline 35
Two non-homologous co-regulated genes PDCD10 and SERPINI1: any possible related function? 35
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa 34
A rare case of TMAU associated with suspected Currarino triad 34
Quantification of trimethylamine (TMA) and trimethylamine oxide (TMAO) for diagnostic and targeted diet purposes. 33
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling 31
Editome landscape of CCM-derived endothelial cells 30
Pedigree analysis of a family affected by hereditary cerebral cavernous malformations novel candidate genes detected by whole genome sequencing 30
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs 30
Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis 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 25
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Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration 22
ON MACHINE LEARNING IN BIOMEDICINE 22
VARIANTS OF THE MOLECULAR CHAPERONE HSPA8 AND HSPA1A GENES IN TRIMETHYLAMINURIA: A PILOT STUDY 21
Trimethylaminuria: do abnormal chaperons play a pathogenic role? 20
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NOVEL GENES INVOLVED IN ETIOPATHOGENESIS OF RETINITIS PIGMENTOSA ORPHANFORMS 18
Advances in Bioinformatics, Biostatistics and Omic Sciences 16
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells 15
‘Role of neurodevelopment involved genes in psychiatric comorbidities and modulation of inflammatory processes in Alzheimer's disease’ (J. Neurol. Sci. (2016) 370 (162–166)(S0022510X16306189)(10.1016/j.jns.2016.09.053)) 12
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The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment 10
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
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Totale 2.862
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Categoria #
all - tutte 10.837
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 10.837
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201914 0 0 0 0 0 0 0 0 0 0 8 6
2019/2020254 7 4 7 4 4 27 11 16 9 86 58 21
2020/2021442 65 30 43 19 59 17 37 14 53 61 22 22
2021/2022443 1 48 21 5 17 14 25 21 8 110 28 145
2022/20231.160 72 103 56 104 101 112 13 78 471 4 41 5
2023/2024317 27 48 18 42 35 84 8 36 1 17 1 0
Totale 2.862