Autoimmune retinopathy: A Review

por Canamary, Aristófanes Mendonça, Takahashi, Walter Yukihiko, Sallum, Juliana Maria Ferraz
Publicado 2018

Retinitis Pigmentosa Due to Rp1 Biallelic Variants

por Silva, Rita Sousa, Salles, Mariana Vallim, Motta, Fabiana Louise, Sallum, Juliana Maria Ferraz
Publicado 2020

Gene panel sequencing in Brazilian patients with retinitis pigmentosa

por Costa, Kárita Antunes, Salles, Mariana Vallim, Whitebirch, Chris, Chiang, John, Sallum, Juliana Maria Ferraz
Publicado 2017

Relative frequency of inherited retinal dystrophies in Brazil

por Motta, Fabiana Louise, Martin, Renan Paulo, Filippelli-Silva, Rafael, Salles, Mariana Vallim, Sallum, Juliana Maria Ferraz
Publicado 2018

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

por Motta, Fabiana Louise, Salles, Mariana Vallim, Costa, Karita Antunes, Filippelli-Silva, Rafael, Martin, Renan Paulo, Sallum, Juliana Maria Ferraz
Publicado 2017

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

por da Palma, Mariana Matioli, Motta, Fabiana Louise, Gomes, Caio Perez, Salles, Mariana Vallim, Pesquero, João Bosco, Sallum, Juliana Maria Ferraz
Publicado 2020

Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy

por da Palma, Mariana Matioli, Motta, Fabiana Louise, Salles, Mariana Vallim, Texeira, Caio Henrique Marques, Gomes, André V., Casaroli-Marano, Ricardo, Sallum, Juliana Maria Ferraz
Publicado 2021

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease

por Salles, Mariana Vallim, Motta, Fabiana Louise, Martin, Renan, Filippelli-Silva, Rafael, Dias da Silva, Elton, Varela, Patricia, Costa, Kárita Antunes, Chiang, John PeiWen, Pesquero, João Bosco, Sallum, Juliana-Maria Ferraz
Publicado 2018

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

por Magrinelli, Francesca, Cali, Elisa, Braga, Vinícius Lopes, Yis, Uluç, Tomoum, Hoda, Shamseldin, Hanan, Raiman, Julian, Kernstock, Christoph, Rezende Filho, Flávio Moura, Barsottini, Orlando Graziani Povoas, Taylor, Robert W., Østergaard, Elsebet, Tamim, Abdullah, Schäferhoff, Karin, Sallum, Juliana Maria Ferraz, Zaki, Maha S., Kok, Fernando, Bhatia, Kailash P., Wissinger, Bernd, Sergeant, Kate, Haack, Tobias B., Horvath, Rita, Hiz, Semra, Alkuraya, Fowzan S., Houlden, Henry, Pedroso, José Luiz, Maroofian, Reza
Publicado 2022