Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia

por Amaral, Rebeca A. S., Motta, Fabiana L., Zin, Olivia A., da Palma, Mariana M., Rodrigues, Gabriela D., Sallum, Juliana M. F.
Publicado 2023

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review

por Sallum, Juliana M. F., Kaur, Vinay Preet, Shaikh, Javed, Banhazi, Judit, Spera, Claudio, Aouadj, Celia, Viriato, Daniel, Fischer, M. Dominik
Publicado 2022

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

por Motta, Fabiana L., Martin, Renan P., Porto, Fernanda B. O., Wohler, Elizabeth S., Resende, Rosane G., Gomes, Caio P., Pesquero, João B., Sallum, Juliana M. F.
Publicado 2019

RNA-based therapies in inherited retinal diseases

por Girach, Aniz, Audo, Isabelle, Birch, David G., Huckfeldt, Rachel M., Lam, Byron L., Leroy, Bart P., Michaelides, Michel, Russell, Stephen R., Sallum, Juliana M.F., Stingl, Katarina, Tsang, Stephen H., Yang, Paul
Publicado 2022

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia

por Zin, Olivia A., Neves, Luiza M., Motta, Fabiana L., Horovitz, Dafne D. G., Guida, Leticia, Gomes, Leonardo H. F., Cunha, Daniela P., Rodrigues, Ana Paula S., Zin, Andrea A., Sallum, Juliana M. F., Vasconcelos, Zilton F. M.
Publicado 2021

Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families

por Zin, Olivia A., Neves, Luiza M., Cunha, Daniela P., Motta, Fabiana L., Agonigi, Bruna N. S., Horovitz, Dafne D. G., Almeida, Daltro C., Malacarne, Jocieli, Rodrigues, Ana Paula S., Carvalho, Adriana B., Rivello, Cinthia A., Espariz, Rita, Zin, Andrea A., Sallum, Juliana M. F., Vasconcelos, Zilton F. M.
Publicado 2023

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil

por de Melo, Mônica Barbosa, Mandal, Anil K., Tavares, Ivan M., Ali, Mohammed Hasnat, Kabra, Meha, de Vasconcellos, José Paulo Cabral, Senthil, Sirisha, Sallum, Juliana M. F., Kaur, Inderjeet, Betinjane, Alberto J., Moura, Christiane R., Paula, Jayter S., Costa, Karita A., Sarfarazi, Mansoor, Paolera, Mauricio Della, Finzi, Simone, Ferraz, Victor E. F., Costa, Vital P., Belfort, Rubens, Chakrabarti, Subhabrata
Publicado 2015