IRIS
DONATO, Luigi
 Distribuzione geografica
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Continente #
EU - Europa 1.362
NA - Nord America 1.147
AS - Asia 237
AF - Africa 1
Continente sconosciuto - Info sul continente non disponibili 1
Totale 2.748
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Nazione #
US - Stati Uniti d'America 1.139
IE - Irlanda 378
SE - Svezia 294
IT - Italia 281
PL - Polonia 223
CN - Cina 143
DE - Germania 66
SG - Singapore 43
BE - Belgio 21
GB - Regno Unito 21
FI - Finlandia 19
VN - Vietnam 18
NL - Olanda 12
FR - Francia 11
IN - India 9
UA - Ucraina 9
RU - Federazione Russa 8
JP - Giappone 7
PK - Pakistan 7
AT - Austria 6
CA - Canada 6
CZ - Repubblica Ceca 4
IL - Israele 4
MT - Malta 2
MX - Messico 2
TR - Turchia 2
TW - Taiwan 2
BG - Bulgaria 1
CH - Svizzera 1
EG - Egitto 1
EU - Europa 1
GR - Grecia 1
KR - Corea 1
LT - Lituania 1
LU - Lussemburgo 1
MD - Moldavia 1
NO - Norvegia 1
PH - Filippine 1
Totale 2.748
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Città #
Dublin 378
Chandler 311
Warsaw 223
Nyköping 170
Messina 143
Ashburn 110
Beijing 69
Princeton 53
Bremen 51
Medford 45
Des Moines 38
New York 38
Ann Arbor 37
Jacksonville 35
Singapore 24
Boardman 23
Brussels 19
Dong Ket 18
Dearborn 17
Wilmington 17
Cambridge 14
Jinan 12
Rome 11
Woodbridge 11
Shenyang 10
Amsterdam 9
Lancaster 9
Ningbo 8
Falls Church 7
Seattle 7
Helsinki 6
Padova 6
Vienna 6
Hyderabad 5
Los Angeles 5
Troina 5
Washington 5
Ancona 4
Cagliari 4
Catania 4
Hebei 4
Lahore 4
Nanjing 4
Norwalk 4
Pune 4
Rosolini 4
Tianjin 4
Auburn Hills 3
Brno 3
Carini 3
Hangzhou 3
Islamabad 3
Kfar Saba 3
Lago 3
Lappeenranta 3
Munich 3
San Mateo 3
Shanghai 3
Stockholm 3
Taiyuan 3
Abbiategrasso 2
Atlanta 2
Durham 2
Edinburgh 2
Enna 2
Ferrandina 2
Guangzhou 2
Haikou 2
Hefei 2
Houston 2
Istanbul 2
Lanzhou 2
London 2
Malfa 2
Mineo 2
Mountain View 2
Ottawa 2
Palma Campania 2
Paris 2
Perugia 2
Piazza Armerina 2
Pietà 2
Redwood City 2
Salerno 2
Santa Teresa Di Riva 2
Taipei 2
Tokyo 2
Toronto 2
Trento 2
Waanrode 2
Athens 1
Brooklyn 1
Cairo 1
Caldaro 1
Changsha 1
Dallas 1
Davao City 1
Fremont 1
Fuzhou 1
Hanover 1
Totale 2.104
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Nome #
New omics approaches improving classification and personalized retinitis pigmentosa diagnosis 179
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. 105
The Combination of New Missense Mutation with [A(TA)7TAA] Dinucleotide Repeat in UGT1A1 Gene Promoter Causes Gilbert's Syndrome 104
GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population 95
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms in Italian patients with sporadic cerebral cavernous malformations: a pilot study 95
miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions 92
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance 84
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
Bioinformatic analysis of a “functional cluster” probably related to retinitis pigmentosa 79
Down-expression of RHO gene in Egyptian patient with three regulative region variants could lead to retinitis punctata albescens phenotype 77
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin 76
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations 71
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations 70
Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa 64
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations 60
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations 56
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis 55
Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies 54
Advances in Bioinformatics, Biostatistics and Omic Sciences 54
Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells 53
Gut-Brain Axis Cross-Talk and Limbic Disorders as BiologicalBasis of Secondary TMAU 53
Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: A pilot study 52
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
N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells 50
Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations 49
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
Oxidative Stress and the Neurovascular Unit 42
Nine differentially expressed genes from a post mortem study and their association with suicidal status in a sample of suicide completers, attempters and controls 41
Novel intronic variants in unconventional gene cluster could lead to Retinitis pigmentosa phenotype 41
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline 39
Aged fingerprints for DNA profile: First report of successful typing 38
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis 36
A rare case of TMAU associated with suspected Currarino triad 36
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling 36
Two non-homologous co-regulated genes PDCD10 and SERPINI1: any possible related function? 36
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 33
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
Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration 27
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
null 23
VARIANTS OF THE MOLECULAR CHAPERONE HSPA8 AND HSPA1A GENES IN TRIMETHYLAMINURIA: A PILOT STUDY 22
ON MACHINE LEARNING IN BIOMEDICINE 22
NOVEL GENES INVOLVED IN ETIOPATHOGENESIS OF RETINITIS PIGMENTOSA ORPHANFORMS 20
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells 19
null 19
‘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)) 13
null 11
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 9
The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis 8
Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration 8
From powerhouse to regulator: The role of mitoepigenetics in mitochondrion-related cellular functions and human diseases 7
How Many Alzheimer–Perusini’s Atypical Forms Do We Still Have to Discover? 6
Methylome analysis of endothelial cells suggests new insights on sporadic brain arteriovenous malformation 3
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Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini’s Disease and Retinal Dystrophies 2
Totale 3.039
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Categoria #
all - tutte 13.146
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 13.146
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020243 0 0 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
2022/20231.146 72 100 55 100 100 110 13 75 471 4 41 5
2023/2024418 27 48 18 42 35 84 8 36 1 15 16 88
2024/202590 43 22 25 0 0 0 0 0 0 0 0 0
Totale 3.039