Lista de obras -

Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome

artículo científico publicado en 2015

Autoimmune retinopathy: A Review.

artículo científico publicado en 2018

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

artículo científico publicado en 2020

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS

scientific article published on 23 December 2018

Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report

scientific article published on 01 September 2018

Gene panel sequencing in Brazilian patients with retinitis pigmentosa.

artículo científico publicado en 2017

Human Leukocyte Antigen Class I Genes Associated With Stevens-Johnson Syndrome and Severe Ocular Complications Following Use of Cold Medicine in a Brazilian Population

artículo científico publicado en 2017

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

scientific article published on 31 March 2020

Lack of association between the 5-HTTLPR and positive screening for mental disorders among children exposed to urban violence and maltreatment.

artículo científico publicado en 2014

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

artículo científico publicado en 2017

Macular pigment optical density measured by dual-wavelength autofluorescence imaging in diabetic and nondiabetic patients: a comparative study.

artículo científico publicado en 2010

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Novel codon 15 RHO gene mutation associated with retinitis pigmentosa

article

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial

scientific article published on 13 July 2014

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

artículo científico publicado en 2019

Posterior polar cataract: genetic analysis of a large family

artículo científico publicado en 2005

Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients

scientific article published on 19 April 2018

Relative frequency of inherited retinal dystrophies in Brazil

artículo científico publicado en 2018

Retinal dystrophies and variants in PRPH2

artículo científico publicado en 2019

Retinal function in patients treated with tamoxifen.

artículo científico publicado en 2010

Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration.

artículo científico publicado en 2014

Septo-optic dysplasia with late-onset seizure: MRI and ophthalmological features

scientific article published on 01 May 2019

Simultaneous confocal scanning laser ophthalmoscopy combined with high-resolution spectral-domain optical coherence tomography: a review.

artículo científico publicado en 2011

Spectral-domain optical coherence tomography for macular edema

artículo científico publicado en 2014

TUBGCP4 - associated microcephaly and chorioretinopathy

artículo científico publicado en 2020

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

article

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

artículo científico publicado en 2017

Vision-related quality of life in children with retinopathy of prematurity

artículo científico publicado en 2015

[Unilateral retinitis pigmentosa secondary to eye injury: case report]

artículo científico publicado en 2012

Lista de obras de

Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome

Autoimmune retinopathy: A Review.

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS

Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report

Gene panel sequencing in Brazilian patients with retinitis pigmentosa.

Human Leukocyte Antigen Class I Genes Associated With Stevens-Johnson Syndrome and Severe Ocular Complications Following Use of Cold Medicine in a Brazilian Population

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

Lack of association between the 5-HTTLPR and positive screening for mental disorders among children exposed to urban violence and maltreatment.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Macular pigment optical density measured by dual-wavelength autofluorescence imaging in diabetic and nondiabetic patients: a comparative study.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

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

Novel codon 15 RHO gene mutation associated with retinitis pigmentosa

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial

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

Posterior polar cataract: genetic analysis of a large family

Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients

Relative frequency of inherited retinal dystrophies in Brazil

Retinal dystrophies and variants in PRPH2

Retinal function in patients treated with tamoxifen.

Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration.

Septo-optic dysplasia with late-onset seizure: MRI and ophthalmological features

Simultaneous confocal scanning laser ophthalmoscopy combined with high-resolution spectral-domain optical coherence tomography: a review.

Spectral-domain optical coherence tomography for macular edema

TUBGCP4 - associated microcephaly and chorioretinopathy

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

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

Vision-related quality of life in children with retinopathy of prematurity

[Unilateral retinitis pigmentosa secondary to eye injury: case report]