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Journal Articles (3)
Meeting Abstract (3)

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Investigative Ophthalmology & Visual Science (6)

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ARVO Annual Meeting Abstract (3)
Retina (2)
Biochemistry and Molecular Biology (1)

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Genetics (3)
Retina (3)
Biochemistry and Molecular Biology (1)
Eye Anatomy and Disorders (1)

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genes (3)
electroretinography (2)
mutation (2)
phenotype (2)
candidate disease gene (1)
cohort studies (1)
family (1)
gene clusters (1)
genetics, molecular (1)
genotype (1)

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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 July 2021

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

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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.

Retina September 2007

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

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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

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Biochemistry and Molecular Biology October 2005

A Novel Locus for Autosomal Dominant Cone and Cone–Rod Dystrophies Maps to the 6p Gene Cluster of Retinal Dystrophies

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Marco Castori; Enza Maria Valente; Maurizio Clementi; Alma Patrizia Tormene; Francesco Brancati; Viviana Caputo; Bruno Dallapiccola
TAGS: gene clusters, maps, progressive cone-rod dystrophy, retinal cone, retinal dystrophies, retinitis pigmentosa, family, genes, candidate disease gene, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2005; 46(10):3539-3544. https://doi.org/10.1167/iovs.05-0331

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Online ISSN: 1552-5783

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

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