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Luís Alexandre Rassi Gabriel
Luís Alexandre Rassi Gabriel
Founder of the Ocular Genetics Clinics, Universidade Federal de Goias
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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
1612012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
I Perrault, S Hanein, X Zanlonghi, V Serre, M Nicouleau, ...
Nature Genetics, 2012
1542012
ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis
LAR Gabriel, LW Wang, H Bader, JC Ho, AK Majors, JG Hollyfield, ...
Investigative ophthalmology & visual science 53 (1), 461-469, 2012
1122012
Oculodentodigital Dysplasia: New Ocular Findings and a Novel Connexin 43 Mutation
LAR Gabriel, R Sachdeva, A Marcotty, EJ Rockwood, EI Traboulsi
Archives of ophthalmology 129 (6), 781, 2011
372011
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association
P Biswas, JL Duncan, B Maranhao, I Kozak, K Branham, L Gabriel, JH Lin, ...
Physiological genomics 49 (4), 216-229, 2017
282017
Safety and efficacy of moxifloxacin-dexamethasone eyedrops as treatment for bacterial ocular infection associated with bacterial blepharitis
R Belfort, L Gabriel, PJ Martins Bispo, C Muccioli, ...
Advances in therapy 29, 416-426, 2012
262012
Comparative study of ophthalmological and serological manifestations and the therapeutic response of patients with isolated scleritis and scleritis associated with systemic …
JM Sousa, VFM Trevisani, RP Modolo, LAR Gabriel, LA Vieira, D Freitas
Arquivos Brasileiros de Oftalmologia 74, 405-409, 2011
182011
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
P Biswas, AL Villanueva, A Soto-Hermida, JL Duncan, H Matsui, ...
PLoS genetics 17 (10), e1009848, 2021
142021
Intravitreal bevacizumab combined with infliximab in the treatment of choroidal neovascularization secondary to age-related macular degeneration: case report series
LGA Freitas, DLC Isaac, WT Tannure, LAR Gabriel, RG Reis, AR Rassi, ...
Arquivos brasileiros de oftalmologia 76, 180-184, 2013
132013
Genetic diagnostic methods for inherited eye diseases
LAR Gabriel, EI Traboulsi
Middle East African Journal of Ophthalmology 18 (1), 24, 2011
92011
Processos oxidativos avançados no tratamento de águas residuárias: possibilidades mecanísticas na degradação de poluentes
JL Ramos, GB Godoy, JOF Monteiro, IRG Godoi, BS Bega, IS Amâncio, ...
Revista Brasileira de Engenharia de Biossistemas 14 (4), 372-388, 2020
42020
Estudo da toxicidade da ureia na germinação de rabanete e couve
DSS Souza, JL Ramos, AB Dias, ALR Portela, FB Villa, GB Godoy, ...
Revista Brasileira de Engenharia de Biossistemas 13 (3), 262-270, 2019
42019
Oclusão de ramo arterial retiniano bilateral
LGA Freitas, DLC Isaac, LAR Gabriel, LCSN Bianchi, MP Ávila
Revista Brasileira de Oftalmologia 72, 271-273, 2013
32013
Retinal Function Testing and Genetic Disease
LAR Gabriel, NS Peachey, JS Sunness
Genetic Diseases of the Eye 343, 2012
32012
ESTUDOS DA TOXICIDADE DO ALUMÍNIO EM VALORES DE pH 7, 0 E 7, 5 PARA BRASSICA OLERACEA L. E RAPHANUS SATIVUS L.
L Gabriel, MC Volpe, GA Cristiano, VDD Neves, DSS Souza, JL Ramos, ...
Revista Brasileira de Engenharia de Biossistemas 13 (4), 312-323, 2019
22019
Estudo da Toxicidade do Glifosato na Germinação de Couve e Rabanete
FB Villa, JOF Monteiro, GB Godoy, DSS Souza, JL Ramos, AB Dias, ...
Revista Brasileira de Engenharia de Biossistemas 13 (4), 282-289, 2019
12019
Novel nonsense mutation in C2orf71 gene in a brazilian patient with autosomal recessive cone-rod dystrophy
LSM Mendonca, MP Avila, IMBM Silva, LC Lavigne, T Oliveira, J Chiang, ...
Investigative Ophthalmology & Visual Science 55 (13), 3275-3275, 2014
12014
Characterization, Distribution and Putative Function of ADAMTSL4, an Extracellular Protein Mutated in Recessive Ectopia Lentis
LA Gabriel, JG Hollyfield, EI Traboulsi, AK Majors, SS Apte
Investigative Ophthalmology & Visual Science 51 (13), 4771-4771, 2010
12010
Detecção de anticorpos antinucleossomos em soros com diferentes padrões de imunofluorescência em células HEp2
FCM Amato, LAR Gabriel, MC De Martino, V Lourenzi, A Gabriel Junior, ...
Rev. Soc. Bras. Clín. Méd, 1-5, 2006
12006
Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing
KE Branham, P Biswas, LAR Gabriel, A Soto-Hermida, H Matsui, A Telenti, ...
Investigative Ophthalmology & Visual Science 58 (8), 2754-2754, 2017
2017
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