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Meeting Abstract (12)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (14)

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ARVO Annual Meeting Abstract (12)
Genetics (2)

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Eye Anatomy and Disorders (2)
Genetics (2)
Retina (1)

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genes (2)
alleles (1)
choroideremia (1)
eye (1)
family (1)
genotype-phenotype associations (1)
rna splicing (1)
segregation analysis (1)
stargardt's disease (1)

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ARVO Annual Meeting Abstract June 2020

Human Leukocyte Antigen Class I and II Genes Associated Dipyrone induced Stevens-Johnson Syndrome and Severe Ocular Complications in a Brazilian Population

Tais Hitomi Wakamatsu; Mayumi Ueta; Arashi Inoue; Kárita Antunes Costa; Juliana Maria Ferraz Sallum; Lais Yumi Sakano; José Álvaro Pereira Gomes; Shigeru Kinoshita

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):385. doi:

ARVO Annual Meeting Abstract June 2020

Syndromic Inherited Retinal Dystrophies

Mariana Matioli da Palma; Fabiana Louise Motta; Mariana V Salles; Juliana Maria Ferraz Sallum

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):940. doi:

Genetics February 2020

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

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Mariana Matioli da Palma; Fabiana Louise Motta; Caio Perez Gomes; Mariana Vallim Salles; João Bosco Pesquero; Juliana Maria Ferraz Sallum
TAGS: choroideremia, genes, rna splicing, eye
Invest. Ophthalmol. Vis. Sci.. 2020; 61(2):38. doi: https://doi.org/10.1167/iovs.61.2.38

ARVO Annual Meeting Abstract July 2019

Inherited Retinal Disease due to PRPH2 gene pathogenic variants

Mariana Matioli da Palma; Fabiana Louise Motta; Mariana V Salles; Juliana M F Sallum

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2942. doi:

ARVO Annual Meeting Abstract July 2018

Retinitis Pigmentosa due to RP1 variants, phenotype and genotype aspects

Ana Rita Sousa e silva; Mariana Vallim Salles; Fabiana Motta; Juliana M F Sallum

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1830. doi:

Genetics November 2017

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype–Phenotype Correlation

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Mariana Vallim Salles; Fabiana Louise Motta; Elton Dias da Silva; Patricia Varela; Kárita Antunes Costa; Rafael Filippelli-Silva; Renan Paulo Martin; John (Pei-Wen) Chiang; João Bosco Pesquero; Juliana Maria Ferraz Sallum
TAGS: alleles, genes, genotype-phenotype associations, stargardt's disease, segregation analysis, family
Invest. Ophthalmol. Vis. Sci.. 2017; 58(13):5723-5730. doi: https://doi.org/10.1167/iovs.17-22398

ARVO Annual Meeting Abstract June 2017

Segregation analyze in Stargardt patients’ families: investigation of complex allele in ABCA4 gene

Mariana V Salles; Fabiana Louise Motta; Karita Antunes Costa; John Chiang; João Bosco Pesquero; Juliana M F Sallum

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2775. doi:

ARVO Annual Meeting Abstract June 2017

Validating splice altering ‘variants of uncertain significance’ in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene

Justin Branch; Zachary Soens; Yumei Li; Keqing wang; mingchu xu; David G Birch; Fernanda Belga Ottoni Porto; Juliana M F Sallum; Peiquan Zhao; Ruifang Sui; Robert K Koenekoop; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5582. doi:

ARVO Annual Meeting Abstract June 2017

The Phenotype-Genotype Correlation in Brazilian CRB1 Patients

Fabiana Louise Motta; Mariana V Salles; Karita Antunes Costa; Rafael Filippelli da Silva; Renan Paulo Martin; Juliana M F Sallum

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2766. doi:

ARVO Annual Meeting Abstract September 2016

Genetic Testing Based on Next Generation Sequencing (NGS) for Retinitis Pigmentosa (RP) in Brazilian Patients

Juliana M F Sallum; Karita Antunes Costa; MARIANA SALLES; John Pei - wen Chiang

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3156. doi:

ARVO Annual Meeting Abstract September 2016

HLA class I genes associated with Cold Medicine related Stevens-Johnson Syndrome with Severe Ocular Complications in the Brazilian population.

Tais Hitomi Wakamatsu; Mayumi Ueta; Katsushi Tokunaga; Yukinori Okada; Renata Ruoco Loureiro; Karita Antunes Costa; Juliana M F Sallum; José Milhomens; Chie Sotozono; Jose Alvaro Pereira Gomes; Shigeru Kinoshita

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3880. doi:

ARVO Annual Meeting Abstract June 2015

Association of HLA-B*44:03 with Stevens-Johnson syndrome in Brazilian patients

Tais Hitomi Wakamatsu; Mayumi Ueta; Renata Ruoco Loureiro; Kárita Antunes Costa; Juliana M F Sallum; Chie Sotozono; Shigeru Kinoshita; José Alvaro Pereira Gomes

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5993. doi:

ARVO Annual Meeting Abstract April 2014

Progressive Expansion of the Hyperautofluorescent Ring in Cone-Rod Dystrophy

Luiz Henrique Lima; Juliana M F Sallum; Vivienne C Greenstein; Stephen H Tsang

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1419. doi:

ARVO Annual Meeting Abstract April 2014

ABCA4 gene screening by next-generation sequencing in Brazilian Stargardt patients

Mariana Vallim Salles; Karita A Costa; Fabiana L Motta; Elton D Silva; Patricia V Teixeira; Joao Bosco Pesquero; Juliana M F Sallum

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1424. doi:

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Online ISSN: 1552-5783

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

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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