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List of works by Juliana M F Sallum

Association of age and macular pigment optical density using dual-wavelength autofluorescence imaging ⬇️

scientific article published on April 4, 2013

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

scientific article published on 01 May 2015

Autoimmune retinopathy: A Review.

scientific article

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

scientific article published on 31 August 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

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis ⬇️

scientific article published on July 29, 2012

Gene panel sequencing in Brazilian patients with retinitis pigmentosa.

scientific article

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

scientific article

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.

scientific article published on 7 April 2014

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in November 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

Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients ⬇️

scientific article published on October 1, 2013

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

scientific article published on 24 December 2019

Posterior polar cataract: genetic analysis of a large family

scientific article

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

scientific article published in Scientific Reports

Retinal dystrophies and variants in PRPH2

scientific article published on 01 March 2019

Retinal function in patients treated with tamoxifen.

scientific article published in April 2010

Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration

scientific article published in October 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.

scientific article

Spectral-domain optical coherence tomography for macular edema

scientific article

TUBGCP4 - associated microcephaly and chorioretinopathy

scientific article published on 09 April 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.

scientific article

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

scientific article published in August 2015

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

scientific article published on 01 May 2012

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