Cathepsin L in COVID-19: From Pharmacological Evidences to Genetics
Gomes, Caio P, Fernandes, Danilo E, Casimiro, Fernanda, da Mata, Gustavo F, Passos, Michelle T, Varela, Patricia, Mastroianni-Kirsztajn, Gianna, Pesquero, João Bosco
Published in Frontiers in cellular and infection microbiology (08.12.2020)
Published in Frontiers in cellular and infection microbiology (08.12.2020)
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Journal Article
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients
Varela, Patrícia, Mastroianni Kirsztajn, Gianna, Motta, Fabiana L, Martin, Renan P, Turaça, Lauro T, Ferrer, Henrique L F, Gomes, Caio P, Nicolicht, Priscila, Mara Marins, Maryana, Pessoa, Juliana G, Braga, Marion C, D'Almeida, Vânia, Martins, Ana Maria, Pesquero, João B
Published in Orphanet journal of rare diseases (29.01.2020)
Published in Orphanet journal of rare diseases (29.01.2020)
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Journal Article
Coding, Decoding and Retrieving a Message Using DNA: An Experience from a Brazilian Center Research on DNA Data Storage
Gomes, Caio P, Martins, André G C, Nunes, Sabrina E, Ramos, Bruno, Wisinewski, Henrique R, Reis, João L M S, Lima, Ariel P, Aoyagi, Thiago Y, Goncales, Icaro, Maia, Danilo S, Tunussi, Ariane S, Menossi, Marília S, Pereira, Jr, Sergio M, Turrini, Paula C G, Gervasio, João H D B, Verona, Bruno M, Cerize, Natalia N P
Published in Micromachines (Basel) (01.04.2024)
Published in Micromachines (Basel) (01.04.2024)
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Journal Article
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
Motta, Fabiana L, Martin, Renan P, Porto, Fernanda B O, Wohler, Elizabeth S, Resende, Rosane G, Gomes, Caio P, Pesquero, João B, Sallum, Juliana M F
Published in Genes (24.12.2019)
Published in Genes (24.12.2019)
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Journal Article
Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
Motta, Fabiana, Martin, Renan, Porto, Fernanda, Wohler, Elizabeth, Resende, Rosane, Gomes, Caio, Pesquero, João, Sallum, Juliana
Published in Genes (01.01.2020)
Published in Genes (01.01.2020)
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Journal Article
Presence of the mutation c.1-769G>/;C in the promoter region of the GLA gene could be responsible for the α-galactosidase-A deficiency in Fabry patients
Varela, Patricia, Gomes, Caio P, Marins, Maryana, Assis, Erica, D'Almeida, Vania, Martins, Ana Maria, Pesquero, João Bosco
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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Journal Article
Presence of the mutation c.1-769G >/; C in the promoter region of the GLA gene could be responsible for the α-galactosidase-A deficiency in Fabry patients
Varela, Patricia, Gomes, Caio P, Marins, Maryana, Assis, Erica, D'Almeida, Vania, Martins, Ana Maria, Pesquero, João Bosco
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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Journal Article
A Brazilian profile of GLA gene mutations: A review of ten years experience with diagnosis of Fabry disease
Pesquero, Joao B., Varela, Patricia, Motta, Fabiana L., Gomes, Caio P., Pessoa, Juliana G., Marins, Maryana, Assis, Erica A., Nicolicht, Priscila, D'Almeida, Vania, Martins, Ana M.
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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