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Investigative Ophthalmology & Visual Science
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April 9, 2011
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy
Francesco Testa, Enrico Maria Surace, Settimio Rossi, et al.
Journal of Neurology
|
April 14, 2009
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study
Chiara Criscuolo, Alessandro Filla, Giovanni Coppola, et al.
Orphanet Journal of Rare Diseases
|
July 31, 2023
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
Vittoria Murro, Sandro Banfi, Francesco Testa, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 13, 2002
A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation
Giuseppe Saglio, Clelia T Storlazzi, Emilia Giugliano, et al.
Orphanet Journal of Rare Diseases
|
January 30, 2013
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
Ivana Peluso, Ivan Conte, Francesco Testa, et al.
Scientific Reports
|
December 7, 2017
MiR-211 is essential for adult cone photoreceptor maintenance and visual function
Sara Barbato, Elena Marrocco, Daniela Intartaglia, et al.
American Journal of Medical Genetics. Part A
|
November 24, 2022
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy
Daniela Pasquali, Annalaura Torella, Anna Grandone, et al.
Nucleic Acids Research
|
May 29, 2016
An atlas of gene expression and gene co-regulation in the human retina
Michele Pinelli, Annamaria Carissimo, Luisa Cutillo, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 15, 2026
Uncovering mitochondrial defects in photoreceptors opens therapeutic opportunities for Stargardt disease
Simona Brillante, Mariagrazia Volpe, Anna Diana, et al.
Plos One
|
September 7, 2012
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures
Danilo Licastro, Margherita Mutarelli, Ivana Peluso, et al.
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of 14
Search research articles
Search
Showing results (81-90 of 136) with videos related to
Sort By:
Page
of 14
Investigative Ophthalmology & Visual Science
|
April 9, 2011
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy
Francesco Testa, Enrico Maria Surace, Settimio Rossi, et al.
Journal of Neurology
|
April 14, 2009
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study
Chiara Criscuolo, Alessandro Filla, Giovanni Coppola, et al.
Orphanet Journal of Rare Diseases
|
July 31, 2023
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
Vittoria Murro, Sandro Banfi, Francesco Testa, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 13, 2002
A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation
Giuseppe Saglio, Clelia T Storlazzi, Emilia Giugliano, et al.
Orphanet Journal of Rare Diseases
|
January 30, 2013
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
Ivana Peluso, Ivan Conte, Francesco Testa, et al.
Scientific Reports
|
December 7, 2017
MiR-211 is essential for adult cone photoreceptor maintenance and visual function
Sara Barbato, Elena Marrocco, Daniela Intartaglia, et al.
American Journal of Medical Genetics. Part A
|
November 24, 2022
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy
Daniela Pasquali, Annalaura Torella, Anna Grandone, et al.
Nucleic Acids Research
|
May 29, 2016
An atlas of gene expression and gene co-regulation in the human retina
Michele Pinelli, Annamaria Carissimo, Luisa Cutillo, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 15, 2026
Uncovering mitochondrial defects in photoreceptors opens therapeutic opportunities for Stargardt disease
Simona Brillante, Mariagrazia Volpe, Anna Diana, et al.
Plos One
|
September 7, 2012
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures
Danilo Licastro, Margherita Mutarelli, Ivana Peluso, et al.
Page
of 14