IRIS
KARALI, MARIANTHI
 Distribuzione geografica
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Continente #
NA - Nord America 887
EU - Europa 840
AS - Asia 128
SA - Sud America 2
OC - Oceania 1
Totale 1.858
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Nazione #
US - Stati Uniti d'America 886
IE - Irlanda 384
IT - Italia 195
DE - Germania 64
GB - Regno Unito 62
SG - Singapore 59
UA - Ucraina 52
CN - Cina 32
BE - Belgio 21
TR - Turchia 20
FI - Finlandia 16
GR - Grecia 16
FR - Francia 9
KR - Corea 9
SE - Svezia 6
CH - Svizzera 5
CZ - Repubblica Ceca 5
IR - Iran 4
PK - Pakistan 3
RU - Federazione Russa 3
BR - Brasile 2
AT - Austria 1
AU - Australia 1
CA - Canada 1
ES - Italia 1
IN - India 1
Totale 1.858
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Città #
Dublin 384
Chandler 222
Santa Clara 109
Jacksonville 86
Roxbury 52
Cambridge 48
Princeton 44
Boardman 35
Singapore 35
Bremen 30
Brussels 21
Medford 21
Ann Arbor 14
Istanbul 13
Naples 13
Caserta 12
Munich 12
Atella 11
Castelfranco Emilia 11
Aversa 10
Des Moines 10
Wilmington 10
Seoul 9
Nanjing 7
Napoli 7
Bologna 6
New York 6
Rome 6
San Mateo 6
Beijing 5
Brno 5
Jinan 5
Maletto 5
Portici 5
Salerno 5
Helsinki 4
Mountain View 4
Rockville 4
Woodbridge 4
Ashburn 3
Gunzenhausen 3
Karachi 3
Norwalk 3
Peschiera Del Garda 3
Sarno 3
Trento 3
Cimitile 2
Collegeville 2
Düsseldorf 2
Houston 2
Lappeenranta 2
Marcq-en-Baroeul 2
Menlo Park 2
Milan 2
Pozzuoli 2
São Paulo 2
Taiyuan 2
Auburn Hills 1
Benevento 1
Borås 1
Boydton 1
Cedar Knolls 1
Cercola 1
Chicago 1
Fairfield 1
Florence 1
Frattaminore 1
Genoa 1
Gold Coast 1
Guangzhou 1
Guntur 1
Hanover 1
Hebei 1
Kish 1
Lanzhou 1
Ningbo 1
Oakland 1
Piraeus 1
Rovereto 1
San Sperate 1
Sanayi 1
Seattle 1
Shenyang 1
St Petersburg 1
Torre del Greco 1
Uppsala 1
Valencia 1
Vienna 1
Volgograd 1
Voronezh 1
Yicheng 1
Totale 1.373
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Nome #
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 67
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 67
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 65
MicroRNA-Restricted transgene expression in the retina 63
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction 63
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 63
An atlas of gene expression and gene co-regulation in the human retina 63
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 62
AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death 51
Inherited Retinal Dystrophies: The role of gene expression regulators 50
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 49
Baseline characteristics of patients with Usher Syndrome due to MYO7A mutations enrolled in a prospective natural history study 49
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 46
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (Genetics in Medicine, (2018), 10.1038/s41436-018-0345-5) 46
A high-resolution view of the human retina miRNome 46
Identification and characterization of microRNAs expressed in the mouse eye 45
miRetina database 44
A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas 43
High Resolution Gene Expression Analysis in the Human Retina 43
Pericentral Retinitis Pigmentosa is associated with a high prevalence of USH2A pathogenic variants in an Italian cohort of patients 43
miRNEye database 42
microRNAs as biomarkers in Pompe disease 40
Mir-204 Modulates Optic Cup Patterning During Medaka Fish Embryonic Eye Development 39
MiR-211 is essential for adult cone photoreceptor maintenance and visual function 37
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 37
miR-204 overexpression exerts a protective role in inherited retinal diseases 37
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients 36
Definition of the organization of the ABCA4 transcriptional unit by meta-analysis of transcriptome data 36
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations 35
A Simplified Technique for In situ Excision of Cornea and Evisceration of Retinal Tissue from Human Ocular Globe 35
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 33
MiR-204 and miR-211 and uses thereof 33
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study 33
Two cases with Fundus albipunctatus due to mutations in RPE65 gene 32
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy 32
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics 31
miR-204 is required for lens and retinal development via Meis2 targeting 30
miRNeye: a microRNA expression atlas of the mouse eye 29
Inducible gene expression systems and plant biotechnology 29
Non-coding RNAs in retinal development and function 28
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 28
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis 26
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 26
Spectrum of disease severity in nonsyndromic patients with mutations in the CEP290 gene: A multicentric longitudinal study 23
Sophisticated Gene Regulation for a Complex Physiological System: The Role of Non-coding RNAs in Photoreceptor Cells 20
Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage 18
Objective Outcomes to Evaluate Voretigene Neparvovec Treatment Effects in Clinical Practice 16
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients 14
The C. elegans HP1 homologue HPL-2 and the LIN-13 zinc finger protein form a complex implicated in vulval development 13
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome 9
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy 8
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy 7
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes 6
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy 5
Totale 1.971
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Categoria #
all - tutte 10.637
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 10.637
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202061 0 0 0 0 13 7 20 3 5 2 5 6
2020/2021162 13 0 11 22 18 1 34 16 7 16 20 4
2021/2022316 7 3 7 2 58 0 21 34 21 14 15 134
2022/2023771 73 63 6 46 85 64 1 43 364 5 11 10
2023/2024289 23 5 14 15 91 13 5 1 2 13 23 84
2024/2025188 11 15 4 39 119 0 0 0 0 0 0 0
Totale 1.971