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 | 161 | 2012 |
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 | 154 | 2012 |
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 | 112 | 2012 |
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 | 37 | 2011 |
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 | 28 | 2017 |
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 | 26 | 2012 |
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 | 18 | 2011 |
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 | 14 | 2021 |
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 | 13 | 2013 |
Genetic diagnostic methods for inherited eye diseases LAR Gabriel, EI Traboulsi Middle East African Journal of Ophthalmology 18 (1), 24, 2011 | 9 | 2011 |
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 | 4 | 2020 |
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 | 4 | 2019 |
Oclusão de ramo arterial retiniano bilateral LGA Freitas, DLC Isaac, LAR Gabriel, LCSN Bianchi, MP Ávila Revista Brasileira de Oftalmologia 72, 271-273, 2013 | 3 | 2013 |
Retinal Function Testing and Genetic Disease LAR Gabriel, NS Peachey, JS Sunness Genetic Diseases of the Eye 343, 2012 | 3 | 2012 |
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 | 2 | 2019 |
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 | 1 | 2019 |
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 | 1 | 2014 |
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 | 1 | 2010 |
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 | 1 | 2006 |
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 |