IRIS
DI IORIO, Valentina
 Distribuzione geografica
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Continente #
EU - Europa 1.800
NA - Nord America 1.582
AS - Asia 383
SA - Sud America 13
Continente sconosciuto - Info sul continente non disponibili 4
AF - Africa 1
OC - Oceania 1
Totale 3.784
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Nazione #
US - Stati Uniti d'America 1.574
IE - Irlanda 621
IT - Italia 348
UA - Ucraina 199
GB - Regno Unito 197
CN - Cina 176
DE - Germania 120
SG - Singapore 100
FR - Francia 80
SE - Svezia 64
TR - Turchia 61
FI - Finlandia 54
GR - Grecia 53
CZ - Repubblica Ceca 20
KR - Corea 16
BE - Belgio 9
BR - Brasile 8
CH - Svizzera 8
IN - India 7
CA - Canada 5
RO - Romania 5
RU - Federazione Russa 5
ES - Italia 4
EU - Europa 4
IL - Israele 4
IR - Iran 4
MD - Moldavia 4
NL - Olanda 4
AE - Emirati Arabi Uniti 3
AR - Argentina 3
PK - Pakistan 3
PL - Polonia 3
CU - Cuba 2
JP - Giappone 2
SA - Arabia Saudita 2
VN - Vietnam 2
AT - Austria 1
AU - Australia 1
CL - Cile 1
HU - Ungheria 1
ID - Indonesia 1
KZ - Kazakistan 1
MX - Messico 1
PE - Perù 1
PH - Filippine 1
SC - Seychelles 1
Totale 3.784
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Città #
Dublin 621
Jacksonville 316
Chandler 297
Santa Clara 93
Boardman 84
Princeton 77
Roxbury 65
Bremen 59
Singapore 57
Caserta 43
Cambridge 39
Medford 38
Ann Arbor 33
Beijing 32
Wilmington 32
Naples 31
Woodbridge 31
Ashburn 26
Istanbul 24
Des Moines 22
Nanjing 21
Brno 20
Jinan 17
Salerno 15
Seoul 15
Castelfranco Emilia 14
Mountain View 14
New York 12
San Mateo 12
Nanchang 10
Redwood City 10
Rome 10
Brussels 9
Taiyuan 9
Tianjin 9
Auburn Hills 8
Lanzhou 8
London 8
Munich 8
Rho 8
Chicago 7
Hebei 7
Napoli 7
Helsinki 6
Los Angeles 6
Ningbo 6
Shenyang 6
Collegeville 5
Falls Church 5
Kunming 5
Taizhou 5
Washington 5
Guangzhou 4
Norwalk 4
Zhengzhou 4
Brampton 3
Dubai 3
Fairfield 3
Haikou 3
Milan 3
Peschiera Del Garda 3
Petah Tikva 3
Pozzuoli 3
Reggio Nell'emilia 3
Seattle 3
Sesto San Giovanni 3
Altamura 2
Amsterdam 2
Arzano 2
Atella 2
Avellino 2
Bresso 2
Buraidah 2
Castellammare Di Stabia 2
Catania 2
Changchun 2
Citerna 2
Dong Ket 2
Duncan 2
Düsseldorf 2
Fucecchio 2
Fuzhou 2
Giugliano in Campania 2
Gravina di Catania 2
Hangzhou 2
Jiaxing 2
La Laguna 2
Lappeenranta 2
Marigliano 2
Menlo Park 2
Munster 2
New Haven 2
Padova 2
Parma 2
Potenza 2
Puerto Eldorado 2
Rubano 2
San Benedetto del Tronto 2
Shanghai 2
São Paulo 2
Totale 2.440
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Nome #
Caratterizzazione clinico-genetica di pazienti italiani con Distrofia Cristallina di Bietti 114
Sicurezza ed efficacia della terapia genica nell'Amaurosi Congenita di Leber: un anno di followup. 94
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 83
Renal phenotype in bardet-biedl syndrome: A combined defect of urinary concentration and dilution is associated with defective urinary aqp2 and umod excretion 79
Biofeedback Rehabilitation in Patients with Stargardt disease: a randomized controlled trial 75
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 74
Trattamento con acetazolamide dell’edema maculare cistoide in pazienti affetti da retinite pigmentosa. 72
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: A case report 71
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. 70
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 68
Incidence of high myopia in italian patients with retinitis pigmentosa 67
Aspetti clinici dell’albinismo oculo-cutaneo correlato a mutazioninei geni TYR e MATP 66
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 66
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 66
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 65
Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function 62
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 61
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene 61
An Atypical Form of Bietti Crystalline Dystrophy 60
Decorso clinico della Retinite Pigmentosa nelle varie forme genetiche 59
A Normal EOG in Best Macular Dystrophy Associated to a Novel Novo de Novo Mutation in VMD2 Gene 58
Severo fenotipo clinico in carriers di coroideremia associato ad una nuova mutazione del gene CHM 58
Association between genotype and disease progression in Italian stargardt patients: A retrospective natural history study 58
Analisi di mutazione del gene XLRS1 in famiglie Italiane affette da retinoschisi X-linked congenita 56
A Normal EOG in Best Macular Dystrophy Associated to a Novel Novo de Novo Mutation in VMD2 Gene 55
'Target Sign' - A near infrared feature and multimodal imaging in a pluri-ethnic cohort with RDH5-related fundus albipunctatus 55
Molecular and clinical characterization of albinism in a large cohort of Italian patients 53
High levels of serum ubiquitin and proteasome in a case of HLA-B27 uveitis 52
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 52
Correlazione tra spessore maculare ed acutezza visiva centrale in pazienti affetti da retinite pigmentosa. 51
New Insight in Retinal Phenotype of Patient with AIPL1 Mutations 51
Macular abnormalities in Italian patients with retinitis pigmentosa. 50
Reproducibility of en-face Optical Coherence Tomography Imaging for Macular Atrophy Area Evaluation in Juvenile Macular Degeneration 50
Macular Function and Morphologic Features in Juvenile Stargardt Disease Longitudinal Study 49
CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia 49
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 48
Applications of Optical Coherence Tomography in the Ocular Diagnosis: From the Tear Film to the Sclera 48
Correlazione tra l’integrità dello strato dei fotorecettori retinici e la funzione visiva in pazienti affetti da Degenerazione maculare giovanile di Stargardt 47
Evaluation of the effect of Acetazolamide on cystoid macular edema in retinitis pigmentosa 46
Clinical phenotype of an Italian case of oculocutaneous albinism type 4 caused by novel mutations in the MATP gene 45
Early posterior vitreous detachment is associated with LAMA5 dominant mutation 45
Autosomal recessive retinitis pigmentosa gene analysis in Italian patients 44
Clinical Findings in an Autosomal Dominant Italian Family With Mutation in the RP1 Gene 44
Characterization of Italian Bietti Crystalline Dystrophy Patients with CYP4V2 Mutations 43
Descrizione del fenotipo clinico in una famiglia italiana con retinite pigmentosa autosomica dominante associata a mutazione del gene NRL 42
Comparison of en-face Optical Coherence Tomography and Fundus Autofluorescence for assessment of macular lesion area in Stargardt disease 42
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells. 41
Use of microperimetry in Stargardt’s juvenile macular degeneration 41
En face spectral-domain optical coherence tomography for the monitoring of lesion area progression in stargardt disease 41
Relation Between Macular Thickness and Central Visual Function in Patients Affected by Retinitis Pigmentosa: New Clinical Outcomes 40
Patho-physiology of renal dysfunction in Bardet-Biedl Syndrome 40
Visual cortex activation in patients with stargardt disease 40
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes 39
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect 38
Evaluation of the effect of Acetazolamide on cystoid macular edema in retinitis pigmentosa 37
Decorso clinico della Retinite Pigmentosa nelle varie forme genetiche 37
Clinical phenotype of an Italian case of oculocutaneous albinism type 4 caused by novel mutations in the MATP gene 35
Biofeedback rehabilitation and visual cortex response in stargardt’s disease: A randomized controlled trial 35
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients 35
Choroidal vascularity features in patients with choroideremia and cystoid spaces 35
Anatomical and Functional Effects of Oral Administration of Curcuma Longa and Boswellia Serrata Combination in Patients with Treatment-Naïve Diabetic Macular Edema 34
Incidence of cystoid macular edema in retinitis pigmentosa 34
Clinical presentation and disease course in Choroideremia patients 34
Learning-based approach to segment pigment signs in fundus images for Retinitis Pigmentosa analysis 34
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations 34
Clinical and genetic study of late onset Stargardt disease 33
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 32
Macular Morphological and Functional Evaluation in Italian Patients with Stargardt Disease 32
Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding 32
Incidence of cystoid macular edema in usher syndrome 31
Automatic segmentation of pigment deposits in retinal fundus images of Retinitis Pigmentosa 31
New CHM Gene Mutation Associated to Severe Phenotype in Carriers of Choroideremia 30
Echographic study in italian families with X-linked juvenile retinoschisis 30
New CHM Gene Mutation Associated to Severe Phenotype in Carriers of Choroideremia 30
Sindrome di Usher e altre distrofie retiniche ereditarie associate a disturbi di pertinenza audiologica: ruolo dell'equipe multidisciplinare 29
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 27
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 25
THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus 23
Care pathway of rpe65-related inherited retinal disorders from early symptoms to genetic counseling: A multicenter narrative medicine project in italy 23
Spectrum of disease severity in nonsyndromic patients with mutations in the CEP290 gene: A multicentric longitudinal study 22
Reply 17
Objective Outcomes to Evaluate Voretigene Neparvovec Treatment Effects in Clinical Practice 15
Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription 15
Navigated 577-nm subthreshold micropulse retinal laser treatment for peripapillary pachychoroid syndrome 14
Photodynamic therapy as a treatment option for peripapillary pachychoroid syndrome: a pilot study 14
Narrative medicine to investigate the quality of life and emotional impact of inherited retinal disorders through the perspectives of patients, caregivers and clinicians: an Italian multicentre project 12
Clinical Applications of Optical Coherence Tomography Angiography in Inherited Retinal Diseases: An Up-to-Date Review of the Literature 12
An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment 10
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy 7
Pars Plana Vitrectomy in Inherited Retinal Diseases: A Comprehensive Review of the Literature 6
Totale 3.980
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Categoria #
all - tutte 18.180
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 18.180
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020281 0 0 0 0 71 22 77 20 26 31 20 14
2020/2021554 33 1 51 96 68 4 71 48 19 60 78 25
2021/2022532 14 3 8 5 149 9 15 20 15 92 41 161
2022/20231.182 85 41 16 97 139 104 7 58 577 11 24 23
2023/2024502 44 18 23 34 152 28 6 16 2 9 34 136
2024/2025208 11 23 14 56 104 0 0 0 0 0 0 0
Totale 3.980