IRIS
DI IORIO, Valentina
 Distribuzione geografica
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Continente #
EU - Europa 1.769
NA - Nord America 1.486
AS - Asia 315
SA - Sud America 11
Continente sconosciuto - Info sul continente non disponibili 4
AF - Africa 1
OC - Oceania 1
Totale 3.587
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Nazione #
US - Stati Uniti d'America 1.478
IE - Irlanda 620
IT - Italia 325
UA - Ucraina 199
GB - Regno Unito 197
CN - Cina 175
DE - Germania 118
FR - Francia 80
SG - Singapore 77
SE - Svezia 64
GR - Grecia 53
FI - Finlandia 49
TR - Turchia 37
CZ - Repubblica Ceca 20
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
MD - Moldavia 4
NL - Olanda 4
AE - Emirati Arabi Uniti 3
PK - Pakistan 3
PL - Polonia 3
CU - Cuba 2
JP - Giappone 2
VN - Vietnam 2
AR - Argentina 1
AT - Austria 1
AU - Australia 1
CL - Cile 1
HU - Ungheria 1
ID - Indonesia 1
IR - Iran 1
KR - Corea 1
KZ - Kazakistan 1
MX - Messico 1
PE - Perù 1
PH - Filippine 1
SC - Seychelles 1
Totale 3.587
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Città #
Dublin 620
Jacksonville 316
Chandler 297
Boardman 84
Princeton 77
Roxbury 65
Bremen 59
Caserta 43
Singapore 41
Cambridge 39
Medford 38
Ann Arbor 33
Beijing 32
Wilmington 32
Woodbridge 31
Ashburn 26
Des Moines 22
Nanjing 21
Brno 20
Jinan 17
Salerno 15
Castelfranco Emilia 14
Mountain View 14
Naples 14
New York 12
San Mateo 12
Nanchang 10
Redwood City 10
Brussels 9
Rome 9
Taiyuan 9
Tianjin 9
Auburn Hills 8
Lanzhou 8
London 8
Rho 8
Chicago 7
Hebei 7
Napoli 7
Munich 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
Los Angeles 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
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
Milan 2
Munster 2
New Haven 2
Padova 2
Parma 2
Potenza 2
Rubano 2
San Benedetto del Tronto 2
Shanghai 2
São Paulo 2
Tokyo 2
Toronto 2
Torre del Greco 2
Épalinges 2
Almaty 1
Aversa 1
Totale 2.267
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Nome #
Caratterizzazione clinico-genetica di pazienti italiani con Distrofia Cristallina di Bietti 110
Sicurezza ed efficacia della terapia genica nell'Amaurosi Congenita di Leber: un anno di followup. 92
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy 82
Renal phenotype in bardet-biedl syndrome: A combined defect of urinary concentration and dilution is associated with defective urinary aqp2 and umod excretion 77
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 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
Trattamento con acetazolamide dell’edema maculare cistoide in pazienti affetti da retinite pigmentosa. 70
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
Incidence of high myopia in italian patients with retinitis pigmentosa 65
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies 64
Aspetti clinici dell’albinismo oculo-cutaneo correlato a mutazioninei geni TYR e MATP 63
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation 62
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 60
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa 60
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene 59
Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function 58
Decorso clinico della Retinite Pigmentosa nelle varie forme genetiche 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
Severo fenotipo clinico in carriers di coroideremia associato ad una nuova mutazione del gene CHM 56
Association between genotype and disease progression in Italian stargardt patients: A retrospective natural history study 56
Analisi di mutazione del gene XLRS1 in famiglie Italiane affette da retinoschisi X-linked congenita 54
A Normal EOG in Best Macular Dystrophy Associated to a Novel Novo de Novo Mutation in VMD2 Gene 52
Molecular and clinical characterization of albinism in a large cohort of Italian patients 51
High levels of serum ubiquitin and proteasome in a case of HLA-B27 uveitis 51
Correlazione tra spessore maculare ed acutezza visiva centrale in pazienti affetti da retinite pigmentosa. 49
New Insight in Retinal Phenotype of Patient with AIPL1 Mutations 49
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 49
Reproducibility of en-face Optical Coherence Tomography Imaging for Macular Atrophy Area Evaluation in Juvenile Macular Degeneration 48
Macular abnormalities in Italian patients with retinitis pigmentosa. 47
Correlazione tra l’integrità dello strato dei fotorecettori retinici e la funzione visiva in pazienti affetti da Degenerazione maculare giovanile di Stargardt 46
Macular Function and Morphologic Features in Juvenile Stargardt Disease Longitudinal Study 46
CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia 46
Applications of Optical Coherence Tomography in the Ocular Diagnosis: From the Tear Film to the Sclera 46
'Target Sign' - A near infrared feature and multimodal imaging in a pluri-ethnic cohort with RDH5-related fundus albipunctatus 46
Clinical phenotype of an Italian case of oculocutaneous albinism type 4 caused by novel mutations in the MATP gene 44
Evaluation of the effect of Acetazolamide on cystoid macular edema in retinitis pigmentosa 44
Autosomal recessive retinitis pigmentosa gene analysis in Italian patients 43
Clinical Findings in an Autosomal Dominant Italian Family With Mutation in the RP1 Gene 43
Clinical and molecular characterization of achromatopsia patients: A longitudinal study 43
Characterization of Italian Bietti Crystalline Dystrophy Patients with CYP4V2 Mutations 42
Early posterior vitreous detachment is associated with LAMA5 dominant mutation 42
Descrizione del fenotipo clinico in una famiglia italiana con retinite pigmentosa autosomica dominante associata a mutazione del gene NRL 41
Use of microperimetry in Stargardt’s juvenile macular degeneration 40
Comparison of en-face Optical Coherence Tomography and Fundus Autofluorescence for assessment of macular lesion area in Stargardt disease 40
Relation Between Macular Thickness and Central Visual Function in Patients Affected by Retinitis Pigmentosa: New Clinical Outcomes 39
En face spectral-domain optical coherence tomography for the monitoring of lesion area progression in stargardt disease 39
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells. 38
Patho-physiology of renal dysfunction in Bardet-Biedl Syndrome 38
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes 38
Visual cortex activation in patients with stargardt disease 38
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect 37
Evaluation of the effect of Acetazolamide on cystoid macular edema in retinitis pigmentosa 36
Decorso clinico della Retinite Pigmentosa nelle varie forme genetiche 36
Clinical phenotype of an Italian case of oculocutaneous albinism type 4 caused by novel mutations in the MATP gene 34
Incidence of cystoid macular edema in retinitis pigmentosa 33
Learning-based approach to segment pigment signs in fundus images for Retinitis Pigmentosa analysis 33
Biofeedback rehabilitation and visual cortex response in stargardt’s disease: A randomized controlled trial 33
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients 33
Clinical presentation and disease course in Choroideremia patients 32
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations 32
Macular Morphological and Functional Evaluation in Italian Patients with Stargardt Disease 31
Clinical and genetic study of late onset Stargardt disease 31
Choroidal vascularity features in patients with choroideremia and cystoid spaces 31
Anatomical and Functional Effects of Oral Administration of Curcuma Longa and Boswellia Serrata Combination in Patients with Treatment-Naïve Diabetic Macular Edema 30
Incidence of cystoid macular edema in usher syndrome 30
Automatic segmentation of pigment deposits in retinal fundus images of Retinitis Pigmentosa 30
New CHM Gene Mutation Associated to Severe Phenotype in Carriers of Choroideremia 29
Echographic study in italian families with X-linked juvenile retinoschisis 29
New CHM Gene Mutation Associated to Severe Phenotype in Carriers of Choroideremia 29
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 29
Sindrome di Usher e altre distrofie retiniche ereditarie associate a disturbi di pertinenza audiologica: ruolo dell'equipe multidisciplinare 28
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 27
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 23
THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus 22
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female 22
Care pathway of rpe65-related inherited retinal disorders from early symptoms to genetic counseling: A multicenter narrative medicine project in italy 21
Spectrum of disease severity in nonsyndromic patients with mutations in the CEP290 gene: A multicentric longitudinal study 20
Reply 16
Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription 14
Navigated 577-nm subthreshold micropulse retinal laser treatment for peripapillary pachychoroid syndrome 13
Photodynamic therapy as a treatment option for peripapillary pachychoroid syndrome: a pilot study 13
Clinical Applications of Optical Coherence Tomography Angiography in Inherited Retinal Diseases: An Up-to-Date Review of the Literature 11
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 8
An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment 8
Objective Outcomes to Evaluate Voretigene Neparvovec Treatment Effects in Clinical Practice 6
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy 5
Pars Plana Vitrectomy in Inherited Retinal Diseases: A Comprehensive Review of the Literature 4
Totale 3.783
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Categoria #
all - tutte 15.279
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 15.279
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020449 75 69 17 7 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
2024/202511 11 0 0 0 0 0 0 0 0 0 0 0
Totale 3.783