IRIS
SIMONELLI, Francesca
 Distribuzione geografica
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Continente #
EU - Europa 17.243
NA - Nord America 6.716
AS - Asia 6.184
SA - Sud America 1.089
AF - Africa 78
OC - Oceania 22
Continente sconosciuto - Info sul continente non disponibili 20
AN - Antartide 1
Totale 31.353
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Nazione #
RU - Federazione Russa 11.226
US - Stati Uniti d'America 6.609
SG - Singapore 2.110
IE - Irlanda 1.820
CN - Cina 1.561
IT - Italia 1.023
HK - Hong Kong 947
BR - Brasile 926
UA - Ucraina 754
GB - Regno Unito 662
DE - Germania 555
VN - Vietnam 393
FR - Francia 365
KR - Corea 282
IN - India 271
SE - Svezia 252
FI - Finlandia 224
TR - Turchia 200
JP - Giappone 192
GR - Grecia 138
AR - Argentina 63
CA - Canada 55
AT - Austria 40
ID - Indonesia 38
BE - Belgio 33
BD - Bangladesh 32
EC - Ecuador 32
MX - Messico 30
CZ - Repubblica Ceca 29
IQ - Iraq 27
NL - Olanda 25
ES - Italia 24
PK - Pakistan 23
AU - Australia 21
ZA - Sudafrica 18
AE - Emirati Arabi Uniti 16
UZ - Uzbekistan 16
EU - Europa 15
PY - Paraguay 15
CO - Colombia 14
CH - Svizzera 12
MA - Marocco 12
SC - Seychelles 12
PL - Polonia 11
KE - Kenya 10
PE - Perù 10
LT - Lituania 9
SA - Arabia Saudita 9
VE - Venezuela 9
CL - Cile 8
KZ - Kazakistan 8
EG - Egitto 7
HU - Ungheria 7
LB - Libano 7
UY - Uruguay 7
PH - Filippine 6
AZ - Azerbaigian 5
DO - Repubblica Dominicana 5
DZ - Algeria 5
IL - Israele 5
IR - Iran 5
RO - Romania 5
TN - Tunisia 5
XK - ???statistics.table.value.countryCode.XK??? 5
AL - Albania 4
BO - Bolivia 4
BY - Bielorussia 4
KG - Kirghizistan 4
MD - Moldavia 4
NP - Nepal 4
PT - Portogallo 4
BH - Bahrain 3
DK - Danimarca 3
EE - Estonia 3
GT - Guatemala 3
JM - Giamaica 3
JO - Giordania 3
OM - Oman 3
PA - Panama 3
SK - Slovacchia (Repubblica Slovacca) 3
BN - Brunei Darussalam 2
CI - Costa d'Avorio 2
CR - Costa Rica 2
CU - Cuba 2
GE - Georgia 2
LK - Sri Lanka 2
MW - Malawi 2
MY - Malesia 2
AO - Angola 1
AQ - Antartide 1
CG - Congo 1
CY - Cipro 1
DM - Dominica 1
ET - Etiopia 1
GA - Gabon 1
GY - Guiana 1
HN - Honduras 1
LU - Lussemburgo 1
LV - Lettonia 1
MN - Mongolia 1
Totale 31.343
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Città #
Moscow 3.956
Dublin 1.807
Jacksonville 1.096
Santa Clara 1.029
Hong Kong 946
Chandler 939
Singapore 843
Seoul 281
Hefei 265
Princeton 248
Bengaluru 223
Boardman 197
Ashburn 195
Beijing 195
Medford 186
Roxbury 172
Dallas 157
Bremen 140
Ann Arbor 132
Ho Chi Minh City 127
Woodbridge 119
Wilmington 108
The Dalles 106
Naples 102
Caserta 95
San Mateo 89
Hanoi 84
Munich 78
Cambridge 72
Nanjing 71
New York 66
São Paulo 65
Istanbul 61
Des Moines 57
Los Angeles 55
Nuremberg 55
Rome 52
Dong Ket 44
Jinan 43
Rio de Janeiro 39
Tianjin 38
Norwalk 34
Mountain View 33
London 32
Brussels 31
Taiyuan 31
Aversa 30
Shenyang 29
Brno 28
Milan 27
Nanchang 27
Turku 27
Guangzhou 26
Düsseldorf 25
Castelfranco Emilia 24
Napoli 24
Belo Horizonte 23
Chicago 23
Tokyo 22
Vienna 21
Brasília 20
Casoria 20
Auburn Hills 19
Bologna 19
Da Nang 18
Lanzhou 18
Changsha 17
Falkenstein 17
Perth 17
Haikou 16
Helsinki 16
San Francisco 16
Toronto 16
Zhengzhou 16
Tashkent 15
Brooklyn 14
Atlanta 13
Falls Church 13
Guayaquil 13
Hangzhou 13
Houston 13
Jakarta 13
Redwood City 13
Seattle 13
Campinas 12
Columbus 12
Frankfurt am Main 12
Kunming 12
Ningbo 12
Amsterdam 11
Baghdad 11
Haiphong 11
Hebei 11
Shenzhen 11
Taizhou 11
Biên Hòa 10
Curitiba 10
Goiânia 10
Lappeenranta 10
Montreal 10
Totale 15.704
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Nome #
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs 221
Caratterizzazione clinico-genetica di pazienti italiani con Distrofia Cristallina di Bietti 200
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 180
Activation of Melanocortin Receptors MC1 and MC5 Attenuates Retinal Damage in Experimental Diabetic Retinopathy 179
A pilot study for development of a novel tool for clinical decision making to identify fallers among ophthalmic patients 174
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 173
Post-operative results of corneal collagen cross-linking for progressive keratoconus 172
AAV-mediated photoreceptor transduction of the pig cone-enriched retina 170
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 170
Identifying fallers among ophthalmic patients using classification tree methodology 162
Intravitreal Injections of Melanocortin Receptor 1, 5 Agonists Prevents Neovascularization in a VEGF165 Mouse Model of Retinopathy 162
'Target Sign' - A near infrared feature and multimodal imaging in a pluri-ethnic cohort with RDH5-related fundus albipunctatus 159
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 158
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 157
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 156
Biofeedback Rehabilitation in Patients with Stargardt disease: a randomized controlled trial 155
Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function 155
Renal phenotype in bardet-biedl syndrome: A combined defect of urinary concentration and dilution is associated with defective urinary aqp2 and umod excretion 152
Evaluation of ocular gene therapy in an italian patient affected by congenital leber amaurosis type 2 treated in both eyes 152
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: Identification of eleven novel pathogenic sequence variants 152
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 152
Association between genotype and disease progression in Italian stargardt patients: A retrospective natural history study 152
Drusen del nervo ottico e retinite pigmentosa 151
An Atypical Form of Bietti Crystalline Dystrophy 150
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 150
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 148
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene 148
A novel mutation in the RDS gene in an Italian family with pattern dystrophy 146
Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family 145
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells. 142
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 142
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 142
High levels of serum ubiquitin and proteasome in a case of HLA-B27 uveitis 141
Photorefractive Keratectomy on Purely Refractive Accommodative Esotropia. 140
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: A case report 140
CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia 140
Systemic Beta-Hydroxybutyrate Affects BDNF and Autophagy into the Retina of Diabetic Mice 139
Mitochondrial diabetes in children: seek and you will find it 139
Clinical presentation and disease course in Choroideremia patients 139
Alterazione dei livelli ematici di Malondialdeide in una famiglia con soggetti affetti da Retinite Pigmentosa 138
Recombinant vectors based on porcine adeno-associated viral serotypes transduce the murine and pig retina 136
Prevalence of macular abnormalities assessed by Optical Coherence Tomography in patients with Usher Syndrome 136
Inhibition of Ocular Aldose Reductase by a New Benzofuroxane Derivative Ameliorates Rat Endotoxic Uveitis 135
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 135
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 135
Clinical and genetic features in Italian Bietti crystalline dystrophy patients 135
A Normal EOG in Best Macular Dystrophy Associated to a Novel Novo de Novo Mutation in VMD2 Gene 135
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 135
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants 135
Wearable Improved Vision System for Color Vision Deficiency Correction 134
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration 133
Fatty acid composition of membrane phospholipids of cataractous human lenses 133
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 132
Aspetti clinici e genetici nella malattia di Best 132
Another case of organ blindness in the history of combined eye-kidney disorders wilson’s disease 132
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 131
Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients 130
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) 130
Two-year macular volume assessment in multiple sclerosis patients treated with fingolimod 130
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 129
Choroidal vascularity features in patients with choroideremia and cystoid spaces 127
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss 126
A novel mutation in the VMD2 gene in an Italian family with Best maculopathy 126
Accuracy of Formulas for Intraocular Lens Power Calculation After Myopic Refractive Surgery 125
Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population 125
Cataract formation in patients with lactose and galactose disorders 124
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome 124
Circulating miRNAs in diabetic retinopathy patients: Prognostic markers or pharmacological targets? 124
Characterization of Italian Bietti Crystalline Dystrophy Patients with CYP4V2 Mutations 123
An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration 123
Therapy of age-related exudative macular degeneration with anti-vascular endothelial growth factor drugs: An Italian real life study 123
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 122
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 122
Evaluating Intraocular Pressure After Myopic Photorefractive Keratectomy: A Comparison of Different Tonometers 121
Molecular epidemiology of Usher syndrome in Italy 121
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients 121
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 120
MicroRNA-Restricted transgene expression in the retina 120
Disturbi del metabolismo lipidico nella patogenesi della Retinite Pigmentosa 120
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 119
Autosomal recessive retinitis pigmentosa gene analysis in Italian patients 119
Automatic Detection of Genetic Diseases in Pediatric Age Using Pupillometry 119
Biofeedback rehabilitation and visual cortex response in stargardt’s disease: A randomized controlled trial 119
Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population 118
Trattamento dell'edema maculare cistoide in pazienti con retinite pigmentosa 118
Studio clinico-genetico di una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8. 118
A collaborative RESTful cloud-based tool for management of chromatic pupillometry in a clinical trial 118
Analysis of Corneal Distortion after Myopic PRK 118
Possible role of galactose-1-P-uridyl transferase activity deficiency in red blood cells in the development of the presenile and senile cataract 117
La cataratta congenita e infantile: classificazione e inquadramento 117
Lactose Metabolism Disorder as risk factor in the development of the adult human cataract 117
Analisi dei polimorfismi del gene paraoxonasi in pazienti affetti da degenerazione maculare senile 117
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations 117
Interplay between Intravitreal RvD1 and Local Endogenous Sirtuin-1 in the Protection from Endotoxin-Induced Uveitis in Rats. 116
Standard versus trans-epithelial collagen cross-linking in keratoconus patients suitable for standard collagen cross-linking 116
Melanocortin receptor agonists MCR1-5 protect photoreceptors from high-glucose damage and restore antioxidant enzymes in primary retinal cell culture 116
Standard, transepithelial and iontophoresis corneal cross-linking: clinical analysis of three surgical techniques 116
Toward a novel medical device based on chromatic pupillometry for screening and monitoring of inherited ocular disease: A pilot study 116
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 116
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients 116
Totale 13.706
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Categoria #
all - tutte 105.844
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 105.844
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.024 0 0 0 0 0 15 234 184 27 233 220 111
2021/20221.673 108 15 32 36 467 20 60 92 73 159 140 471
2022/20233.505 286 107 41 267 389 317 14 211 1.707 29 71 66
2023/20241.438 128 57 73 107 452 74 31 53 11 41 86 325
2024/20254.468 29 67 55 152 703 597 582 448 537 592 382 324
2025/202615.924 803 1.123 960 850 1.483 10.705 0 0 0 0 0 0
Totale 32.018