IRIS
SIMONELLI, Francesca
 Distribuzione geografica
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Continente #
EU - Europa 5.390
NA - Nord America 4.778
AS - Asia 1.009
AF - Africa 21
Continente sconosciuto - Info sul continente non disponibili 15
OC - Oceania 14
SA - Sud America 11
Totale 11.238
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Nazione #
US - Stati Uniti d'America 4.759
IE - Irlanda 1.833
IT - Italia 774
UA - Ucraina 738
GB - Regno Unito 608
CN - Cina 500
DE - Germania 410
FR - Francia 333
SG - Singapore 262
SE - Svezia 253
FI - Finlandia 190
GR - Grecia 137
TR - Turchia 119
VN - Vietnam 44
KR - Corea 30
CZ - Repubblica Ceca 29
BE - Belgio 28
CA - Canada 15
EU - Europa 15
RU - Federazione Russa 15
AU - Australia 14
SC - Seychelles 12
IN - India 11
CH - Svizzera 9
ES - Italia 9
BR - Brasile 7
PK - Pakistan 7
AE - Emirati Arabi Uniti 6
AT - Austria 6
IQ - Iraq 6
IR - Iran 5
JP - Giappone 4
MD - Moldavia 4
NL - Olanda 4
RO - Romania 4
BD - Bangladesh 3
IL - Israele 3
SA - Arabia Saudita 3
CU - Cuba 2
GH - Ghana 2
MW - Malawi 2
AR - Argentina 1
CO - Colombia 1
DZ - Algeria 1
EC - Ecuador 1
EE - Estonia 1
HK - Hong Kong 1
HU - Ungheria 1
ID - Indonesia 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MA - Marocco 1
MX - Messico 1
MY - Malesia 1
NG - Nigeria 1
NP - Nepal 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
PL - Polonia 1
SI - Slovenia 1
SM - San Marino 1
TN - Tunisia 1
ZA - Sudafrica 1
Totale 11.238
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Città #
Dublin 1.821
Jacksonville 1.095
Chandler 939
Princeton 250
Boardman 199
Medford 185
Roxbury 174
Bremen 142
Singapore 138
Ann Arbor 132
Woodbridge 118
Wilmington 108
Beijing 101
Caserta 94
San Mateo 91
Cambridge 74
Nanjing 69
Ashburn 62
Des Moines 57
New York 47
Dong Ket 44
Jinan 40
Norwalk 34
Rome 34
Mountain View 33
Naples 32
Brno 29
Seoul 29
Taiyuan 29
Shenyang 28
Brussels 27
Nanchang 27
Düsseldorf 25
Castelfranco Emilia 24
Napoli 24
Tianjin 24
Auburn Hills 19
Lanzhou 18
Los Angeles 18
London 16
Haikou 15
Milan 15
Munich 15
Guangzhou 14
Aversa 13
Bologna 13
Falls Church 13
Redwood City 13
Houston 12
Kunming 12
Hebei 11
Ningbo 11
Perth 11
Zhengzhou 11
Seattle 10
Taizhou 10
Chicago 9
Fiumefreddo Bruzio 9
Helsinki 9
Lappeenranta 9
Portici 8
Washington 8
Maletto 7
Salerno 7
Atlanta 6
Changchun 6
Changsha 6
Collegeville 6
Hangzhou 6
Jiaxing 6
Rho 6
Torre del Greco 6
West Jordan 6
Andover 5
Atella 5
Avella 5
Edinburgh 5
Fairfield 5
Florence 5
Menlo Park 5
Padova 5
Pozzuoli 5
St Petersburg 5
Terracina 5
Venice 5
Casoria 4
Catania 4
New Haven 4
Ottawa 4
Peschiera Del Garda 4
Reggio Nell'emilia 4
Stockholm 4
São Paulo 4
Tokyo 4
Vienna 4
Amsterdam 3
Brampton 3
Bursa 3
Castellammare Di Stabia 3
Dubai 3
Totale 6.884
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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 130
Caratterizzazione clinico-genetica di pazienti italiani con Distrofia Cristallina di Bietti 111
Drusen del nervo ottico e retinite pigmentosa 100
Activation of Melanocortin Receptors MC1 and MC5 Attenuates Retinal Damage in Experimental Diabetic Retinopathy 82
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 82
Post-operative results of corneal collagen cross-linking for progressive keratoconus 81
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 78
Renal phenotype in bardet-biedl syndrome: A combined defect of urinary concentration and dilution is associated with defective urinary aqp2 and umod excretion 77
AAV-mediated photoreceptor transduction of the pig cone-enriched retina 76
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 75
Elective surgery system strengthening: development, measurement, and validation of the surgical preparedness index across 1632 hospitals in 119 countries 75
Glicosilazione non enzimatica delle proteine e sviluppo di cataratta nel diabete 74
Identifying fallers among ophthalmic patients using classification tree methodology 74
Recombinant vectors based on porcine adeno-associated viral serotypes transduce the murine and pig retina 73
Wearable Improved Vision System for Color Vision Deficiency Correction 73
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 72
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 72
Fatty acid composition of membrane phospholipids of cataractous human lenses 72
Biofeedback Rehabilitation in Patients with Stargardt disease: a randomized controlled trial 72
Intravitreal Injections of Melanocortin Receptor 1, 5 Agonists Prevents Neovascularization in a VEGF165 Mouse Model of Retinopathy 71
Inhibition of Ocular Aldose Reductase by a New Benzofuroxane Derivative Ameliorates Rat Endotoxic Uveitis 70
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: A case report 70
A pilot study for development of a novel tool for clinical decision making to identify fallers among ophthalmic patients 69
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 68
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 68
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 67
Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population 66
Mitochondrial diabetes in children: seek and you will find it 65
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 65
Trattamento dell'edema maculare cistoide in pazienti con retinite pigmentosa 64
Studio clinico-genetico di una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8. 64
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 63
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 63
Molecular epidemiology of Usher syndrome in Italy 62
Possible role of galactose-1-P-uridyl transferase activity deficiency in red blood cells in the development of the presenile and senile cataract 62
Photorefractive Keratectomy on Purely Refractive Accommodative Esotropia. 62
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 62
Cone-rod dystrophy phenotype associated with ABCA4 (ABCR) gene mutation 62
Evaluation of ocular gene therapy in an italian patient affected by congenital leber amaurosis type 2 treated in both eyes 62
Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family 61
MicroRNA-Restricted transgene expression in the retina 61
Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population 61
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 61
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 61
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration 60
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 60
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene 60
A novel mutation in the RDS gene in an Italian family with pattern dystrophy 60
Aspetti clinici e genetici nella malattia di Best 60
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 60
Measurement of the erythrocyte galactokinase activity in patients with presenile and senile idiopathic cataract. Preliminary study 59
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy 59
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 59
Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients 59
Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function 59
Disturbi del metabolismo lipidico nella patogenesi della Retinite Pigmentosa 58
Alterazione dei livelli ematici di Malondialdeide in una famiglia con soggetti affetti da Retinite Pigmentosa 58
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 58
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 57
An Atypical Form of Bietti Crystalline Dystrophy 57
A Normal EOG in Best Macular Dystrophy Associated to a Novel Novo de Novo Mutation in VMD2 Gene 56
Association between genotype and disease progression in Italian stargardt patients: A retrospective natural history study 56
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity 55
La cataratta congenita e infantile: classificazione e inquadramento 55
A novel mutation in the VMD2 gene in an Italian family with Best maculopathy 55
Standard versus trans-epithelial collagen cross-linking in keratoconus patients suitable for standard collagen cross-linking 55
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease 54
Mutations in IMPG1 cause vitelliform macular dystrophies 54
Related Articles, Links Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration 54
Analisi dei polimorfismi del gene paraoxonasi in pazienti affetti da degenerazione maculare senile 54
Possible role of altered levels of plasma docosahexaenoic acid in the pathogenesis of retinitis pigmentosa. Preliminary results 53
Nuova mutazione nel gene RDS/periferina in una famiglia italiana affetta da distrofia a pattern della retina 53
Galactokinase activity in patients with idiopathic presenile and senile cataract 52
Molecular and clinical characterization of albinism in a large cohort of Italian patients 51
Cataract formation in patients with lactose and galactose disorders 51
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene 51
Clinical and genetic features in Italian Bietti crystalline dystrophy patients 51
CLINICAL PRESENTATION and DISEASE COURSE of USHER SYNDROME because of MUTATIONS in MYO7A or USH2A 51
High levels of serum ubiquitin and proteasome in a case of HLA-B27 uveitis 51
Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors. 50
Expression of VEGF-A, Otx homeobox and p53 family genes in proliferative vitreoretinopathy 50
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 50
Gene therapy: AAV2 gene therapy readministration in three adults with congenital blindness 49
Development of a genotyping Microarray for usher syndrome 49
Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene 49
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 49
The ABCA4 2588G > C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe 48
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains 48
Radicali liberi e retinopatia diabetica 48
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa 48
Reproducibility of en-face Optical Coherence Tomography Imaging for Macular Atrophy Area Evaluation in Juvenile Macular Degeneration 48
La macula negli errori ereditari del metabolismo 47
Genotype-phenotype correlation in Italian families with Stargardt disease 47
Systemic human diseases as oxidative risk factors in cataractogenesis. II. Chronic renal failure 47
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome 47
Macular abnormalities in Italian patients with retinitis pigmentosa. 47
Oxidative Stress in Ocular Inflammation 47
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients 47
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2 47
Prevalence of macular abnormalities assessed by Optical Coherence Tomography in patients with Usher Syndrome 47
Totale 6.123
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Categoria #
all - tutte 50.404
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 50.404
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020920 0 0 55 19 204 39 249 78 105 81 55 35
2020/20211.873 139 14 178 220 298 15 234 184 27 233 220 111
2021/20221.682 108 15 32 36 467 20 60 92 73 159 145 475
2022/20233.530 288 107 41 267 391 317 21 211 1.720 29 72 66
2023/20241.501 128 57 73 108 460 76 31 54 11 61 110 332
2024/2025114 34 80 0 0 0 0 0 0 0 0 0 0
Totale 11.837