IRIS
SIMONELLI, Francesca
 Distribuzione geografica
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Continente #
NA - Nord America 5.794
EU - Europa 5.495
AS - Asia 1.246
AF - Africa 15
Continente sconosciuto - Info sul continente non disponibili 15
OC - Oceania 15
SA - Sud America 14
Totale 12.594
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Nazione #
US - Stati Uniti d'America 5.766
IE - Irlanda 1.817
IT - Italia 871
UA - Ucraina 738
GB - Regno Unito 613
CN - Cina 542
DE - Germania 417
SG - Singapore 395
FR - Francia 334
SE - Svezia 248
FI - Finlandia 194
TR - Turchia 179
GR - Grecia 137
VN - Vietnam 44
BE - Belgio 32
KR - Corea 30
CZ - Repubblica Ceca 29
CA - Canada 24
HK - Hong Kong 16
RU - Federazione Russa 16
AU - Australia 15
EU - Europa 15
SC - Seychelles 12
IN - India 10
BR - Brasile 9
CH - Svizzera 9
HU - Ungheria 7
ES - Italia 6
PK - Pakistan 5
AE - Emirati Arabi Uniti 4
AR - Argentina 4
AT - Austria 4
IR - Iran 4
JP - Giappone 4
MD - Moldavia 4
NL - Olanda 4
RO - Romania 4
IL - Israele 3
IQ - Iraq 3
LT - Lituania 3
BY - Bielorussia 2
CU - Cuba 2
MW - Malawi 2
SA - Arabia Saudita 2
AL - Albania 1
BD - Bangladesh 1
DK - Danimarca 1
EC - Ecuador 1
EE - Estonia 1
ID - Indonesia 1
KG - Kirghizistan 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MX - Messico 1
PA - Panama 1
PH - Filippine 1
PL - Polonia 1
SM - San Marino 1
ZA - Sudafrica 1
Totale 12.594
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Città #
Dublin 1.805
Jacksonville 1.095
Santa Clara 1.005
Chandler 939
Princeton 248
Singapore 245
Boardman 197
Medford 185
Roxbury 172
Bremen 140
Ann Arbor 132
Woodbridge 118
Wilmington 108
Beijing 101
Caserta 94
San Mateo 89
Naples 76
Cambridge 72
Nanjing 70
Ashburn 63
Istanbul 61
Des Moines 57
New York 48
Dong Ket 44
Rome 44
Jinan 40
Norwalk 34
Mountain View 33
Brussels 31
Seoul 29
Taiyuan 29
Brno 28
Shenyang 28
Nanchang 27
Düsseldorf 25
Aversa 24
Castelfranco Emilia 24
Munich 24
Napoli 24
Tianjin 24
London 20
Los Angeles 20
Auburn Hills 19
Lanzhou 18
Guangzhou 16
Milan 16
Haikou 15
Helsinki 15
Hong Kong 15
Bologna 13
Falls Church 13
Redwood City 13
Houston 12
Kunming 12
Zhengzhou 12
Hebei 11
Ningbo 11
Perth 11
Salerno 10
Seattle 10
Taizhou 10
Toronto 10
Chicago 9
Fiumefreddo Bruzio 9
Lappeenranta 9
Portici 8
Washington 8
Changsha 7
Jiaxing 7
Maletto 7
Atlanta 6
Catania 6
Changchun 6
Collegeville 6
Hangzhou 6
Ottawa 6
Rho 6
São Paulo 6
Torre del Greco 6
Atella 5
Avella 5
Edinburgh 5
Fairfield 5
Florence 5
Marcianise 5
Menlo Park 5
Padova 5
Pozzuoli 5
St Petersburg 5
Terracina 5
Venice 5
Andover 4
Casoria 4
Dubai 4
Frankfurt am Main 4
New Haven 4
Peschiera Del Garda 4
Reggio Nell'emilia 4
Shanghai 4
Tokyo 4
Totale 8.148
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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 135
Caratterizzazione clinico-genetica di pazienti italiani con Distrofia Cristallina di Bietti 118
Drusen del nervo ottico e retinite pigmentosa 104
Activation of Melanocortin Receptors MC1 and MC5 Attenuates Retinal Damage in Experimental Diabetic Retinopathy 87
Post-operative results of corneal collagen cross-linking for progressive keratoconus 86
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 85
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 85
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 83
Recombinant vectors based on porcine adeno-associated viral serotypes transduce the murine and pig retina 82
AAV-mediated photoreceptor transduction of the pig cone-enriched retina 81
Renal phenotype in bardet-biedl syndrome: A combined defect of urinary concentration and dilution is associated with defective urinary aqp2 and umod excretion 81
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 80
Identifying fallers among ophthalmic patients using classification tree methodology 80
Fatty acid composition of membrane phospholipids of cataractous human lenses 79
Wearable Improved Vision System for Color Vision Deficiency Correction 79
Biofeedback Rehabilitation in Patients with Stargardt disease: a randomized controlled trial 78
Inhibition of Ocular Aldose Reductase by a New Benzofuroxane Derivative Ameliorates Rat Endotoxic Uveitis 77
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 77
Glicosilazione non enzimatica delle proteine e sviluppo di cataratta nel diabete 77
Intravitreal Injections of Melanocortin Receptor 1, 5 Agonists Prevents Neovascularization in a VEGF165 Mouse Model of Retinopathy 77
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 76
A pilot study for development of a novel tool for clinical decision making to identify fallers among ophthalmic patients 76
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 75
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: A case report 73
Mitochondrial diabetes in children: seek and you will find it 73
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 72
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 71
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 71
Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population 70
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 70
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 69
Studio clinico-genetico di una famiglia con retinite pigmentosa autosomica dominante associata ad una nuova mutazione nel gene PRPF8. 69
Evaluation of ocular gene therapy in an italian patient affected by congenital leber amaurosis type 2 treated in both eyes 69
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 69
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy 68
Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population 68
Trattamento dell'edema maculare cistoide in pazienti con retinite pigmentosa 68
Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family 67
Possible role of galactose-1-P-uridyl transferase activity deficiency in red blood cells in the development of the presenile and senile cataract 67
Cone-rod dystrophy phenotype associated with ABCA4 (ABCR) gene mutation 67
Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function 67
Molecular epidemiology of Usher syndrome in Italy 66
Photorefractive Keratectomy on Purely Refractive Accommodative Esotropia. 66
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration 65
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene 65
MicroRNA-Restricted transgene expression in the retina 65
A novel mutation in the RDS gene in an Italian family with pattern dystrophy 65
Aspetti clinici e genetici nella malattia di Best 65
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 65
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy 64
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 64
Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients 64
Alterazione dei livelli ematici di Malondialdeide in una famiglia con soggetti affetti da Retinite Pigmentosa 64
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 63
Measurement of the erythrocyte galactokinase activity in patients with presenile and senile idiopathic cataract. Preliminary study 63
An Atypical Form of Bietti Crystalline Dystrophy 63
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 63
Association between genotype and disease progression in Italian stargardt patients: A retrospective natural history study 63
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 63
Disturbi del metabolismo lipidico nella patogenesi della Retinite Pigmentosa 62
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity 61
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 61
A novel mutation in the VMD2 gene in an Italian family with Best maculopathy 61
A Normal EOG in Best Macular Dystrophy Associated to a Novel Novo de Novo Mutation in VMD2 Gene 60
Analisi dei polimorfismi del gene paraoxonasi in pazienti affetti da degenerazione maculare senile 60
'Target Sign' - A near infrared feature and multimodal imaging in a pluri-ethnic cohort with RDH5-related fundus albipunctatus 60
La cataratta congenita e infantile: classificazione e inquadramento 59
Mutations in IMPG1 cause vitelliform macular dystrophies 59
Related Articles, Links Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration 59
Standard versus trans-epithelial collagen cross-linking in keratoconus patients suitable for standard collagen cross-linking 59
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease 58
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene 58
Nuova mutazione nel gene RDS/periferina in una famiglia italiana affetta da distrofia a pattern della retina 58
Possible role of altered levels of plasma docosahexaenoic acid in the pathogenesis of retinitis pigmentosa. Preliminary results 57
Molecular and clinical characterization of albinism in a large cohort of Italian patients 56
Development of a genotyping Microarray for usher syndrome 56
Lactose Metabolism Disorder as risk factor in the development of the adult human cataract 56
Clinical and genetic features in Italian Bietti crystalline dystrophy patients 56
CLINICAL PRESENTATION and DISEASE COURSE of USHER SYNDROME because of MUTATIONS in MYO7A or USH2A 56
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 55
Cataract formation in patients with lactose and galactose disorders 55
Macular abnormalities in Italian patients with retinitis pigmentosa. 55
Galactokinase activity in patients with idiopathic presenile and senile cataract 55
Deficit di Galattosio-1-P-Uridil Transferasi e sviluppo di cataratta nel diabete 55
High levels of serum ubiquitin and proteasome in a case of HLA-B27 uveitis 55
The ABCA4 2588G > C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe 54
Expression of VEGF-A, Otx homeobox and p53 family genes in proliferative vitreoretinopathy 54
Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene 54
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa 54
Prevalence of macular abnormalities assessed by Optical Coherence Tomography in patients with Usher Syndrome 54
Two-year macular volume assessment in multiple sclerosis patients treated with fingolimod 54
Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors. 53
La macula negli errori ereditari del metabolismo 53
Gene therapy: AAV2 gene therapy readministration in three adults with congenital blindness 53
Genotype-phenotype correlation in Italian families with Stargardt disease 53
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome 53
Oxidative Stress in Ocular Inflammation 53
CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia 53
Radicali liberi e retinopatia diabetica 52
Reproducibility of en-face Optical Coherence Tomography Imaging for Macular Atrophy Area Evaluation in Juvenile Macular Degeneration 52
Totale 6.663
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Categoria #
all - tutte 59.565
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 59.565
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020642 0 0 0 0 0 39 249 78 105 81 55 35
2020/20211.873 139 14 178 220 298 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
2024/20251.588 29 67 55 152 703 582 0 0 0 0 0 0
Totale 13.214