Juliana Maria Ferraz Sallum
Juliana Maria Ferraz Sallum
Professora da Pós graduação Oftalmologia da UNIFESP
Verified email at - Homepage
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Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
PW Chiang, J Wang, Y Chen, Q Fu, J Zhong, Y Chen, X Yi, R Wu, H Gan, ...
Nature Genetics 44 (9), 972-974, 2012
Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12. 2-12.3
JB Kerrison, VJ Arnould, JMF Sallum, MR Vagefi, MM Barmada, Y Li, ...
Archives of ophthalmology 117 (6), 805-810, 1999
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ...
Genetics in Medicine 22 (7), 1235-1246, 2020
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial
RK Koenekoop, R Sui, J Sallum, LI van den Born, R Ajlan, A Khan, ...
The Lancet 384 (9953), 1513-1520, 2014
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene
DC Chung, M Bertelsen, B Lorenz, ME Pennesi, BP Leroy, CP Hamel, ...
American journal of ophthalmology 199, 58-70, 2019
Treatment of cystoid macular edema related to retinitis pigmentosa with intravitreal triamcinolone acetonide
VS Saraiva, JMF Sallum, ME Farah
Ophthalmic Surgery, Lasers and Imaging Retina 34 (5), 398-400, 2003
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
S Kmoch, J Majewski, V Ramamurthy, S Cao, S Fahiminiya, H Ren, ...
Nature communications 6 (1), 5614, 2015
Pegcetacoplan for the treatment of geographic atrophy secondary to age-related macular degeneration (OAKS and DERBY): two multicentre, randomised, double-masked, sham …
JS Heier, EM Lad, FG Holz, PJ Rosenfeld, RH Guymer, D Boyer, F Grossi, ...
The Lancet 402 (10411), 1434-1448, 2023
Hyperautofluorescent ring in autoimmune retinopathy
LH Lima, JP Greenberg, VC Greenstein, RT Smith, JMF Sallum, C Thirkill, ...
Retina 32 (7), 1385-1394, 2012
Macular pigment optical density measured by dual-wavelength autofluorescence imaging in diabetic and nondiabetic patients: a comparative study
VC Lima, RB Rosen, M Maia, TS Prata, S Dorairaj, ME Farah, J Sallum
Investigative ophthalmology & visual science 51 (11), 5840-5845, 2010
Relative frequency of inherited retinal dystrophies in Brazil
FL Motta, RP Martin, R Filippelli-Silva, MV Salles, JMF Sallum
Scientific reports 8 (1), 15939, 2018
Autoimmune retinopathy: A Review
AM Canamary, WY Takahashi, JMF Sallum
International Journal of Retina and Vitreous 4 (1), 1, 2018
Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation
TL Oliveira, RE Andrade, C Muccioli, J Sallum, R Belfort Jr
American journal of ophthalmology 140 (1), 147-149, 2005
Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients
LH Lima, JMF Sallum, RF Spaide
Retina 33 (9), 1877-1880, 2013
Association of sex with frequent and mild ABCA4 alleles in Stargardt disease
EH Runhart, M Khan, SS Cornelis, S Roosing, M Del Pozo-Valero, ...
JAMA ophthalmology 138 (10), 1035-1042, 2020
Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain …
ZT Soens, J Branch, S Wu, Z Yuan, Y Li, H Li, K Wang, M Xu, L Rajan, ...
Human mutation 38 (11), 1521-1533, 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
TH Wakamatsu, M Ueta, K Tokunaga, Y Okada, RR Loureiro, KA Costa, ...
Jama ophthalmology 135 (4), 355-360, 2017
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
FM Rezende Filho, MH Parkinson, JL Pedroso, R Poh, I Faber, ...
Parkinsonism & related disorders 62, 148-155, 2019
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
FM Rezende Filho, MH Parkinson, JL Pedroso, R Poh, I Faber, ...
Parkinsonism & related disorders 62, 148-155, 2019
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes
FL Motta, MV Salles, KA Costa, R Filippelli-Silva, RP Martin, JMF Sallum
Scientific Reports 7 (1), 8654, 2017
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