IRIS
KARALI, MARIANTHI
 Distribuzione geografica
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Continente #
EU - Europa 4.000
NA - Nord America 2.175
AS - Asia 1.508
SA - Sud America 262
Continente sconosciuto - Info sul continente non disponibili 166
AF - Africa 14
OC - Oceania 5
Totale 8.130
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Nazione #
RU - Federazione Russa 2.764
US - Stati Uniti d'America 2.113
SG - Singapore 473
IT - Italia 448
IE - Irlanda 387
CN - Cina 287
VN - Vietnam 268
BR - Brasile 206
HK - Hong Kong 190
GB - Regno Unito 95
KR - Corea 91
DE - Germania 87
IN - India 60
UA - Ucraina 57
JP - Giappone 34
TR - Turchia 29
FI - Finlandia 28
CA - Canada 26
BE - Belgio 24
AR - Argentina 18
GR - Grecia 17
AT - Austria 15
FR - Francia 15
CH - Svizzera 10
EC - Ecuador 10
IQ - Iraq 10
NL - Olanda 10
PK - Pakistan 9
BD - Bangladesh 8
ID - Indonesia 8
SE - Svezia 8
MX - Messico 7
PE - Perù 7
AE - Emirati Arabi Uniti 6
CO - Colombia 6
ES - Italia 6
JM - Giamaica 6
PY - Paraguay 6
CR - Costa Rica 5
CZ - Repubblica Ceca 5
GT - Guatemala 5
LT - Lituania 5
PL - Polonia 5
UZ - Uzbekistan 5
IR - Iran 4
MY - Malesia 4
VE - Venezuela 4
AU - Australia 3
AZ - Azerbaigian 3
DK - Danimarca 3
DZ - Algeria 3
KG - Kirghizistan 3
MA - Marocco 3
PA - Panama 3
PR - Porto Rico 3
SA - Arabia Saudita 3
ZA - Sudafrica 3
AL - Albania 2
BG - Bulgaria 2
BO - Bolivia 2
CL - Cile 2
EE - Estonia 2
ET - Etiopia 2
HN - Honduras 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
PH - Filippine 2
PS - Palestinian Territory 2
TH - Thailandia 2
BN - Brunei Darussalam 1
BZ - Belize 1
CY - Cipro 1
EG - Egitto 1
HR - Croazia 1
IL - Israele 1
JO - Giordania 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LV - Lettonia 1
NG - Nigeria 1
PT - Portogallo 1
RO - Romania 1
SC - Seychelles 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
UY - Uruguay 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 7.965
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Città #
Moscow 1.043
Dublin 387
San Jose 264
Chandler 222
Singapore 219
Santa Clara 208
Hong Kong 187
Ashburn 159
Council Bluffs 129
Ho Chi Minh City 92
Seoul 91
Jacksonville 86
Hanoi 66
Dallas 61
Roxbury 52
Cambridge 49
Hefei 48
Beijing 47
Princeton 46
Milan 43
Bengaluru 39
Los Angeles 38
Boardman 35
Naples 35
Bremen 30
Brussels 24
Medford 21
Aversa 20
Munich 20
Chicago 15
Ann Arbor 14
Memphis 14
New York 14
Caserta 13
Da Nang 13
Haiphong 13
Istanbul 13
Rome 13
The Dalles 13
Castelfranco Emilia 12
São Paulo 12
Atella 11
Des Moines 11
Miano 11
Helsinki 10
Rio de Janeiro 10
Wilmington 10
Atlanta 9
Biên Hòa 8
Bologna 8
San Francisco 8
Brugherio 7
Hải Dương 7
Nanjing 7
Napoli 7
Nuremberg 7
Orem 7
Ankara 6
Castellammare di Stabia 6
Jinan 6
Newark 6
Phoenix 6
Porto Alegre 6
San Diego 6
San Mateo 6
Tokyo 6
Turin 6
Vienna 6
Brno 5
Buffalo 5
Kochi 5
Lima 5
London 5
Maletto 5
Manchester 5
Phủ Lý 5
Portici 5
Remanzacco 5
Salerno 5
Salt Lake City 5
Tashkent 5
Turku 5
Campinas 4
Caprecano 4
Charlotte 4
Chennai 4
Denver 4
Falkenstein 4
Guangzhou 4
Guatemala City 4
Houston 4
Karachi 4
Modena 4
Montreal 4
Mountain View 4
Ninh Bình 4
Philadelphia 4
Rockville 4
St Petersburg 4
Warsaw 4
Totale 4.266
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Nome #
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 190
miRetina database 189
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 188
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 183
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 183
AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death 175
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs 166
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss 159
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 159
An atlas of gene expression and gene co-regulation in the human retina 156
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 151
A high-resolution view of the human retina miRNome 151
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 149
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) 146
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 145
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients 145
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients 144
Baseline characteristics of patients with Usher Syndrome due to MYO7A mutations enrolled in a prospective natural history study 144
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction 143
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations 143
MicroRNA-Restricted transgene expression in the retina 139
A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas 139
A Simplified Technique for In situ Excision of Cornea and Evisceration of Retinal Tissue from Human Ocular Globe 139
Pericentral Retinitis Pigmentosa is associated with a high prevalence of USH2A pathogenic variants in an Italian cohort of patients 139
miRNEye database 138
In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration 137
High Resolution Gene Expression Analysis in the Human Retina 137
Definition of the organization of the ABCA4 transcriptional unit by meta-analysis of transcriptome data 137
Inherited Retinal Dystrophies: The role of gene expression regulators 135
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis 131
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss 128
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study 127
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study 123
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder 123
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration 122
microRNAs as biomarkers in Pompe disease 122
Identification and characterization of microRNAs expressed in the mouse eye 121
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome 120
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort 118
Objective Outcomes to Evaluate Voretigene Neparvovec Treatment Effects in Clinical Practice 118
miR-204 overexpression exerts a protective role in inherited retinal diseases 117
MiR-211 is essential for adult cone photoreceptor maintenance and visual function 114
MiR-204 and miR-211 and uses thereof 113
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy 113
Spectrum of disease severity in nonsyndromic patients with mutations in the CEP290 gene: A multicentric longitudinal study 112
Two cases with Fundus albipunctatus due to mutations in RPE65 gene 111
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 110
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics 107
Inducible gene expression systems and plant biotechnology 105
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy 104
miR-204 is required for lens and retinal development via Meis2 targeting 104
miRNeye: a microRNA expression atlas of the mouse eye 103
Mir-204 Modulates Optic Cup Patterning During Medaka Fish Embryonic Eye Development 103
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy 101
Non-coding RNAs in retinal development and function 99
Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage 91
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes 90
The C. elegans HP1 homologue HPL-2 and the LIN-13 zinc finger protein form a complex implicated in vulval development 89
Sophisticated Gene Regulation for a Complex Physiological System: The Role of Non-coding RNAs in Photoreceptor Cells 88
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies 87
RetiGene, a comprehensive gene atlas for inherited retinal diseases 86
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy 57
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa 47
Voretigene Neparvovec Gene Therapy in Clinical Practice: A 12-Month, Single-Center, In-Depth Analysis of Beneficial and Adverse Drug Effects 22
CLUAP1 variants cause non-syndromic retinitis pigmentosa 20
Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I 20
Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series 15
Totale 8.130
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Categoria #
all - tutte 27.343
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 27.343
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022299 0 0 0 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
2024/2025948 11 15 4 39 136 110 106 141 116 99 75 96
2025/20264.642 149 258 256 221 363 2.566 251 142 164 120 91 61
2026/2027757 34 145 237 341 0 0 0 0 0 0 0 0
Totale 8.130