IRIS
SIMONELLI, Francesca
 Distribuzione geografica
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Continente #
EU - Europa 5.370
NA - Nord America 4.769
AS - Asia 965
AF - Africa 19
Continente sconosciuto - Info sul continente non disponibili 15
OC - Oceania 14
SA - Sud America 11
Totale 11.163
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Nazione #
US - Stati Uniti d'America 4.751
IE - Irlanda 1.831
IT - Italia 764
UA - Ucraina 737
GB - Regno Unito 608
CN - Cina 500
DE - Germania 409
FR - Francia 333
SG - Singapore 254
SE - Svezia 253
FI - Finlandia 188
GR - Grecia 137
TR - Turchia 119
VN - Vietnam 44
CZ - Repubblica Ceca 29
BE - Belgio 28
EU - Europa 15
RU - Federazione Russa 15
AU - Australia 14
CA - Canada 14
SC - Seychelles 12
IN - India 11
CH - Svizzera 9
ES - Italia 8
BR - Brasile 7
PK - Pakistan 7
IQ - Iraq 6
AE - Emirati Arabi Uniti 4
JP - Giappone 4
MD - Moldavia 4
NL - Olanda 4
RO - Romania 4
AT - Austria 3
BD - Bangladesh 3
IL - Israele 3
SA - Arabia Saudita 3
CU - Cuba 2
GH - Ghana 2
IR - Iran 2
KR - Corea 2
MW - Malawi 2
AR - Argentina 1
CO - Colombia 1
DZ - Algeria 1
EC - Ecuador 1
EE - Estonia 1
HU - Ungheria 1
ID - Indonesia 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MX - Messico 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 11.163
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Città #
Dublin 1.819
Jacksonville 1.095
Chandler 939
Princeton 250
Boardman 199
Medford 185
Roxbury 174
Bremen 142
Singapore 133
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
Taiyuan 29
Shenyang 28
Brussels 27
Nanchang 27
Düsseldorf 25
Castelfranco Emilia 24
Napoli 24
Tianjin 24
Auburn Hills 19
Lanzhou 18
London 16
Haikou 15
Guangzhou 14
Los Angeles 14
Munich 14
Aversa 13
Bologna 13
Falls Church 13
Milan 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
Lappeenranta 9
Helsinki 8
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
Amsterdam 3
Brampton 3
Bursa 3
Castellammare Di Stabia 3
Dubai 3
Erbil 3
Gunzenhausen 3
Totale 6.842
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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 110
Drusen del nervo ottico e retinite pigmentosa 100
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
Activation of Melanocortin Receptors MC1 and MC5 Attenuates Retinal Damage in Experimental Diabetic Retinopathy 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 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
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial 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
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: A case report 70
Intravitreal Injections of Melanocortin Receptor 1, 5 Agonists Prevents Neovascularization in a VEGF165 Mouse Model of Retinopathy 70
Inhibition of Ocular Aldose Reductase by a New Benzofuroxane Derivative Ameliorates Rat Endotoxic Uveitis 69
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
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
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot 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 64
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
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 64
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families 63
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
Evaluation of ocular gene therapy in an italian patient affected by congenital leber amaurosis type 2 treated in both eyes 62
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 62
Elective surgery system strengthening: development, measurement, and validation of the surgical preparedness index across 1632 hospitals in 119 countries 62
Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family 61
Molecular epidemiology of Usher syndrome in Italy 61
MicroRNA-Restricted transgene expression in the retina 61
Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population 61
Cone-rod dystrophy phenotype associated with ABCA4 (ABCR) gene mutation 61
Intrafamilial heterogeneity of congenital optic disc pit maculopathy 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 novel mutation in the RDS gene in an Italian family with pattern dystrophy 60
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 60
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 60
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene 59
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
Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients 59
Aspetti clinici e genetici nella malattia di Best 59
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 58
Disturbi del metabolismo lipidico nella patogenesi della Retinite Pigmentosa 58
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease 58
Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function 58
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 57
Alterazione dei livelli ematici di Malondialdeide in una famiglia con soggetti affetti da Retinite Pigmentosa 57
An Atypical Form of Bietti Crystalline Dystrophy 56
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
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa 50
Expression of VEGF-A, Otx homeobox and p53 family genes in proliferative vitreoretinopathy 49
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
Prevalence of macular abnormalities assessed by Optical Coherence Tomography in patients with Usher Syndrome 47
The decrease of free epsilon-amino groups in senile and diabetic cataracts 46
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa 46
Totale 6.087
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Categoria #
all - tutte 48.075
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 48.075
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.377 232 225 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
2024/202534 34 0 0 0 0 0 0 0 0 0 0 0
Totale 11.757