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Lista de obras de Valentina Di Iorio

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene

article

ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study.

artículo científico publicado en 2018

Automatic segmentation of pigment deposits in retinal fundus images of Retinitis Pigmentosa

artículo científico publicado en 2018

CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia

scientific article published on 01 April 2019

Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function

artículo científico publicado en 2019

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

artículo científico publicado en 2017

En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease

artículo científico publicado en 2016

Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy

artículo científico publicado en 2011

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.

artículo científico publicado en 2017

High Levels of Serum Ubiquitin and Proteasome in a Case of HLA-B27 Uveitis.

artículo científico publicado en 2017

Macular abnormalities in Italian patients with retinitis pigmentosa. ⬇️

artículo científico publicado en 2014

Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

artículo científico publicado en 2014

Molecular and clinical characterization of albinism in a large cohort of Italian patients

artículo científico publicado en 2011

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy

artículo científico publicado en 2017

Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion.

artículo científico publicado en 2016

The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect.

artículo científico publicado en 2017

The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes

article published in 2018

The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report.

artículo científico publicado en 2012

Visual Cortex Activation in Patients With Stargardt Disease

artículo científico publicado en 2018

[Patho-physiology of renal dysfunction in Bardet-Biedl Syndrome].

artículo científico publicado en 2017

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