Search | JOV | ARVO Journals

jov

Issues
Topics
For Authors
About
- Editorial Board

Journals Home

MANAGE ALERTS

Access Provided By:
MIT Libraries

Forgot password?

Create an Account

To View More...

Purchase this article with an account.

or

Subscribe Now

Issues
Topics
For Authors
About
- Editorial Board

Narrow View

NARROW

Content Type

Journal Articles (5)
Meeting Abstract (4)

Journal

Investigative Ophthalmology & Visual Science (8)
Journal of Vision (1)

Article Type

ARVO Annual Meeting Abstract (3)
Retina (3)
Clinical and Epidemiologic Research (1)
Genetics (1)
Vision Sciences Society Annual Meeting Abstract (1)

Topics

Genetics (4)
Retina (4)
Clinical and Epidemiologic Research (2)
Eye Anatomy and Disorders (2)
Low Vision (2)
Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology (1)
Imaging (1)
Retinal Imaging (1)
Visual Neuroscience (1)

Tags

cohort studies (3)
genes (3)
italian (3)
mutation (3)
phenotype (3)
albinism (1)
brain (1)
child (1)
cortical blindness (1)
electroretinography (1)

Specify Date Range

From: To: Apply

Showing 1 – 9 of 9

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract June 2024

Long-read RNA sequencing identifies a pathogenic retrotransposon insertion in NMNAT1 in Italian probands

Dalila Capasso; Roberta Zeuli; Marianthi Karali; Raoul Timmermans; Michael Kwint; Enza Maria Valente; Sabrina Signorini; Gavin Arno; Frans Cremers; Sandro Banfi; Susanne Roosing; Daan Panneman; Suzanne E. de Bruijn

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4937.

Retina February 2022

RPE65 -Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study

PDF

Francesco Testa; Vittoria Murro; Sabrina Signorini; Leonardo Colombo; Giancarlo Iarossi; Francesco Parmeggiani; Benedetto Falsini; Anna Paola Salvetti; Raffaella Brunetti-Pierri; Giorgia Aprile; Chiara Bertone; Agnese Suppiej; Francesco Romano; Marianthi Karali; Simone Donati; Paolo Melillo; Andrea Sodi; Luciano Quaranta; Luca Rossetti; Luca Buzzonetti; Marzio Chizzolini; Stanislao Rizzo; Giovanni Staurenghi; Sandro Banfi; Claudio Azzolini; Francesca Simonelli
TAGS: italian, rpe65 protein, cohort studies, retinal diseases, natural history, italy
Invest. Ophthalmol. Vis. Sci.. 2022; 63(2):13. https://doi.org/10.1167/iovs.63.2.13

Vision Sciences Society Annual Meeting Abstract September 2021

The ontogeny of spatial perception in sighted and blind infants

Monica Gori; Claudio Campus; Sabrina Signorini; Eleonora Rivara; Andrew Bremner

Journal of Vision. 2021; 21(9):2734. https://doi.org/10.1167/jov.21.9.2734

Retina July 2021

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

PDF

Francesco Testa; Andrea Sodi; Sabrina Signorini; Valentina Di Iorio; Vittoria Murro; Raffaella Brunetti-Pierri; Enza Maria Valente; Marianthi Karali; Paolo Melillo; Sandro Banfi; Francesca Simonelli
TAGS: cohort studies, genes, longitudinal studies, mutation, phenotype, severity of illness, pathologic nystagmus, introns, genotype, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2021; 62(9):1. https://doi.org/10.1167/iovs.62.9.1

ARVO Annual Meeting Abstract June 2017

FUNCTIONAL AND GENETIC FINDINGS IN PATIENTS AFFECTED BY JOUBERT SYNDROME: RETINAL DYSTROPHY IS CONNECTED WITH DEFINITE CAUSATIVE GENES

Caterina Toma; Giulio Ruberto; Enza Maria Valente; Sabrina Signorini; Chiara Bertone; Mauro Antonini; Paolo Emilio Bianchi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5865.

ARVO Annual Meeting Abstract June 2015

RELATIONSHIP BETWEEN GENOTYPE AND ELECTROPHISIOLOGY ASSESSED BY ELECTRORETINOGRAM AND VISUAL EVOKED POTENTIALS IN 44 YOUNG PEOPLE AFFECTED BY JOUBERT SYNDROME

Giulio Ruberto; Sabrina Signorini; Enza Maria Valente; Mauro Antonini; Federica Ferro; Carmine Tinelli; Paolo Emilio Bianchi; Umberto Balottin; Chiara Bertone

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):762.

Genetics March 2011

Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients

PDF

Annagiusi Gargiulo; Francesco Testa; Settimio Rossi; Valentina Di Iorio; Simona Fecarotta; Teresa de Berardinis; Antonello Iovine; Adriano Magli; Sabrina Signorini; Elisa Fazzi; Maria Silvana Galantuomo; Maurizio Fossarello; Sandro Montefusco; Alfredo Ciccodicola; Alberto Neri; Claudio Macaluso; Francesca Simonelli; Enrico Maria Surace
TAGS: albinism, cohort studies, genes, italian, mutation, phenotype, eye, immune reconstitution inflammatory syndrome
Invest. Ophthalmol. Vis. Sci.. 2011; 52(3):1281-1289. https://doi.org/10.1167/iovs.10-6091

Includes: Supplemental Content

Retina September 2007

Clinical and Molecular Genetics of Leber's Congenital Amaurosis: A Multicenter Study of Italian Patients

PDF

Francesca Simonelli; Carmela Ziviello; Francesco Testa; Settimio Rossi; Elisa Fazzi; Paolo Emilio Bianchi; Maurizio Fossarello; Sabrina Signorini; Chiara Bertone; Silvana Galantuomo; Francesco Brancati; Enza Maria Valente; Alfredo Ciccodicola; Ernesto Rinaldi; Alberto Auricchio; Sandro Banfi
TAGS: genes, genetics, molecular, italian, leber's amaurosis, multicenter studies, mutation, phenotype
Invest. Ophthalmol. Vis. Sci.. 2007; 48(9):4284-4290. https://doi.org/10.1167/iovs.07-0068

Includes: Supplemental Content

Clinical and Epidemiologic Research February 2006

Changes in the Optic Disc Excavation of Children Affected by Cerebral Visual Impairment: A Tomographic Analysis

PDF

Giulio Ruberto; Roberto Salati; Giovanni Milano; Chiara Bertone; Carmine Tinelli; Elisa Fazzi; Rosanna Guagliano; Sabrina Signorini; Renato Borgatti; Alessandro Bianchi; Paolo Emilio Bianchi
TAGS: brain, child, optic disk, visual impairment, tomography, cortical blindness
Invest. Ophthalmol. Vis. Sci.. 2006; 47(2):484-488. https://doi.org/10.1167/iovs.05-0529

« Previous

Advertisement

Follow @ARVOjov

JOV Home
Issues
Topics
For Authors

About
- Editorial Board

Online ISSN: 1534-7362

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

JOURNALS HOME
TOPICS
ABOUT ARVO JOURNALS

Copyright © 2025 Association for Research in Vision and Ophthalmology.

Access Provided By:
MIT Libraries

Forgot password?

To View More...

Purchase this article with an account.

Create an Account

or

Subscribe Now

×

×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×

This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy.Accept