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Meeting Abstract (5)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (7)

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ARVO Annual Meeting Abstract (5)
Genetics (2)

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Eye Anatomy and Disorders (2)
Genetics (2)
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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

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

Pathogenic structural and non-coding variants in retinal dystrophy identified through the 100,000 genomes project

Gavin Arno; Jamie Ellingford; Fabiana Louise Motta; Kathryn Oprych; Rola Ba-Abbad; Omar Abdul Rahman Mahroo; Anthony Moore; Graeme Black; Michel Michaelides; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1755. doi:

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:

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

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 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:

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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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