Zobrazeno 1 - 10
of 35
pro vyhledávání: '"João Bosco, Oliveira"'
Autor:
Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, Mariana Rico-Restrepo, Edmar Zanoteli, Mayana Zatz, Roberto Giugliani
Publikováno v:
International Journal for Equity in Health, Vol 22, Iss 1, Pp 1-10 (2023)
Abstract Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10–13 million people live with these conditions. Increased use of chromosome microarray assays, exome sequencing, and whole genome sequencing as first-
Externí odkaz:
https://doaj.org/article/2622548807c547e0b0fe3490bb35925f
Autor:
de Queiroz Júnior, Amaro Freire, Sanseverino, Maria Teresa Vieira, Collares, Marcus Vinicius Martins, Fornari, Adriana, do Virmond, Luiza Amaral, Filho, João Bosco Oliveira, Artigalás, Osvaldo, Félix, Têmis Maria
Publikováno v:
American Journal of Medical Genetics. Part A; Dec2024, Vol. 194 Issue 12, p1-5, 5p
Autor:
Paula Teixeira Lyra, Ana Carla Augusto Moura Falcão, Rafael Amora Cruz, Antonio Victor Campos Coelho, Edvaldo da Silva Souza, Luiz Claudio Arraes de Alencar, João Bosco Oliveira
Publikováno v:
Einstein (São Paulo), Vol 20 (2022)
ABSTRACT Gain-of-function mutations in the STAT1 gene have been initially associated with chronic mucocutaneous candidiasis. However, further research has shown that STAT1 GOF variants may increase susceptibility to infection by other intracellular p
Externí odkaz:
https://doaj.org/article/f5a80f2376464506a76c761b0e533f65
Autor:
Antonio Victor Campos Coelho, Bruna Mascaro-Cordeiro, Danielle Ribeiro Lucon, Maria Soares Nóbrega, Rodrigo de Souza Reis, Rodrigo Bertollo de Alexandre, Livia Maria Silva Moura, Gustavo Santos de Oliveira, Rafael Lucas Muniz Guedes, Marcel Pinheiro Caraciolo, Nuria Bengala Zurro, Murilo Castro Cervato, João Bosco Oliveira
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2022)
Rare diseases affect up to 13.2 million individuals in Brazil. The Brazilian Rare Genomes Project is envisioned to further the implementation of genomic medicine into the Brazilian public healthcare system. Here we report the validation results of a
Externí odkaz:
https://doaj.org/article/e5119c6c2b3948508f5dfa34f830ae7b
Autor:
L. Karla Arruda, Daniel L. Cordeiro, Sarah S. Langer, Marcel Koenigham-Santos, Rodrigo T. Calado, Marina M. Dias, Leonardo R. Anhesini, João Bosco Oliveira, Bodo Grimbacher, Mariana P.L. Ferriani
Publikováno v:
Journal of Allergy and Clinical Immunology: Global. 2:114-117
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::726f498bf088f584c0326dc5a1fae850
https://doi.org/10.1016/j.jacig.2022.08.004
https://doi.org/10.1016/j.jacig.2022.08.004
Autor:
Paula T. Lyra, Edvaldo Souza, Ana Carla A. Moura, Marina C. Matta, Leuridan C. Torres, Antonio Victor Campos Coelho, Maria Ângela W. Rocha, Luiz Arraes, João Bosco Oliveira
Publikováno v:
Journal of Clinical Immunology. 42:1708-1720
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f838849e8f118509040517f50b8cdafd
https://doi.org/10.1007/s10875-022-01302-9
https://doi.org/10.1007/s10875-022-01302-9
Autor:
Leonardo Simão Medeiros, Carolina Fischinger Moura De Souza, Osvaldo Artigalás, Marcial Francis Galera, Roseli Divino Costa, Dayse do Valle Oliveira, José Elías García-Ortiz, Jesús Real Guerrero, João Bosco Oliveira, Ida Vanessa Doederlein Schwartz
Publikováno v:
Molecular Genetics and Metabolism. 138:107487
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e34330aadc16d38ff86c405e9ca0cb8
https://doi.org/10.1016/j.ymgme.2023.107487
https://doi.org/10.1016/j.ymgme.2023.107487
Autor:
Adriana Almeida Jesus, João Bosco Oliveira, Maria Odete Esteves Hilário, Maria Teresa R. A. Terreri, Erika Fujihira, Mariana Watase, Magda Carneiro-Sampaio, Clovis Artur Almeida Silva
Publikováno v:
Jornal de Pediatria, Vol 86, Iss 5, Pp 353-366 (2010)
OBJETIVO: Descrever as principais síndromes autoinflamatórias hereditárias na faixa etária pediátrica. FONTES DOS DADOS: Foi realizada uma revisão da literatura nas bases de dados PubMed e SciELO, utilizando as palavras-chave "síndromes autoin
Externí odkaz:
https://doaj.org/article/027a62fd85814c8a879c181a1ec66dcb
Autor:
Bianca Linnenkamp, Raissa Girardi, Letícia Rocha, Guilherme Yamamoto, José Ricardo Ceroni, Antonia Elisabeth Cristhina Mendes, Rachel Honjo, Luiz Antônio Oliveira, Raphael Bruno Amemiya, Caio Quaio, João Bosco Oliveira Filho, Chong Ae Kim, Débora Bertola
Publikováno v:
Clinical genetics. 101(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d86b6f6b2e2edb78eb5bd6a0e0608b4
https://pubmed.ncbi.nlm.nih.gov/35137400
https://pubmed.ncbi.nlm.nih.gov/35137400
Autor:
Dinaldo Cavalcanti de Oliveira, João Bosco Oliveira, Carlos Romerio Ferro, Carla Gonçalves Rosa, Luciano Araujo Borba, Francine Knopp, Gustavo Porto Oliveira, Cleiton Ramos Silva, Leopoldo Soares Piegas
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 90, Iss 4, Pp 243-248 (2008)
FUNDAMENTO: Informações sobre a evolução clínica, em longo período, de pacientes submetidos a reperfusão mecânica são escassas. OBJETIVO: O objetivo deste estudo é descrever a evolução clínica a longo prazo de pacientes submetidos a impl
Externí odkaz:
https://doaj.org/article/3b96ab9514ac41caa86472390626ae94