Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Osvaldo Artigalás"'
Autor:
Renan Cesar Sbruzzi, Mayara Jorgens Prado, Bibiana Fam, Helena Ashton Prolla, Alessandra Hellwig, Grazielle Motta Rodrigues, Fernanda de-Paris, Mariana Jobim, Osvaldo Artigalás, Yoann Seeleuthner, Jean-Laurent Casanova, Jacinta Bustamante, Fernanda Sales Luiz Vianna
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Inborn errors of immunity (IEI) encompass a broad range of disorders with heterogeneous clinical presentations, often leading to challenges in early diagnosis. This study presents a case of a Brazilian patient with a T-B+NK- severe combined immunodef
Externí odkaz:
https://doaj.org/article/dcb4c401f5034adca5258e8807cf9031
Autor:
Camila Matzenbacher Bittar, Yasminne Marinho de Araújo Rocha, Igor Araujo Vieira, Clévia Rosset, Tiago Finger Andreis, Ivaine Tais Sauthier Sartor, Osvaldo Artigalás, Cristina B O Netto, Barbara Alemar, Gabriel S Macedo, Patricia Ashton-Prolla
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0251639 (2021)
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by pathogenic germline variants in the TP53 gene, characterized by a predisposition to the development of a broad spectrum of tumors at an early age. The core t
Externí odkaz:
https://doaj.org/article/5faa01362f1d4910bee4c50e4ee2336c
Autor:
Alícia Dorneles Dornelles, Osvaldo Artigalás, André Anjos da Silva, Dora Lucia Vallejo Ardila, Taciane Alegra, Tiago Veiga Pereira, Filippo Pinto E Vairo, Ida Vanessa Doederlein Schwartz
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0184065 (2017)
OBJECTIVE:To evaluate the efficacy and safety of IV laronidase for MPS I. METHODS:A systematic literature review was performed by searching the ClinicalTrials.gov, MEDLINE/PubMed, EMBASE, LILACS, and Cochrane Library databases, limited to clinical tr
Externí odkaz:
https://doaj.org/article/fddfd986e5c049aa8a5d97b61955926a
Autor:
Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, Ida Vanessa D. Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 35, Iss 2, Pp 424-427 (2012)
A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and c
Externí odkaz:
https://doaj.org/article/227c1a8ecd614055a8c358884db35929
Autor:
Roberto Giugliani, Andressa Federhen, Maria Verônica Muñoz Rojas, Taiane Vieira, Osvaldo Artigalás, Louise Lapagesse Pinto, Ana Cecília Azevedo, Angelina Acosta, Carmen Bonfim, Charles Marques Lourenço, Kim Chong Ae, Dafne Horovitz, Denize Bonfim, Denise Norato, Diane Marinho, Durval Palhares, Emerson Santana Santos, Erlane Ribeiro, Eugênia Valadares, Fábio Guarany, Gisele Rosone de Lucca, Helena Pimentel, Isabel Neves de Souza, Jordão Correa Neto, José Carlos Fraga, José Eduardo Goes, José Maria Cabral, José Simionato, Juan Llerena Jr., Laura Jardim, Liane Giuliani, Luiz Carlos Santana da Silva, Mara L. Santos, Maria Angela Moreira, Marcelo Kerstenetzky, Márcia Ribeiro, Nicole Ruas, Patricia Barrios, Paulo Aranda, Rachel Honjo, Raquel Boy, Ronaldo Costa, Carolina Souza, Flavio F. Alcantara, Silvio Gilberto A. Avilla, Simone Fagondes, Ana Maria Martins
Publikováno v:
Genetics and Molecular Biology, Vol 33, Iss 4, Pp 589-604 (2010)
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tiss
Externí odkaz:
https://doaj.org/article/605a4018d82c450a9dcc43fa4125a727
Autor:
Raquel Borges Pinto, Ana Regina Lima Ramos, Ariane Nadia Backes, Beatriz John dos Santos, Valentina Oliveira Provenzi, Mário Rafael Carbonera, Maria Lúcia Roenick, Pedro Paulo Albino dos Santos, Fabrizia Falhauber, Meriene Viquetti de Souza, João Vicente Bassols, Osvaldo Artigalás
Publikováno v:
São Paulo Medical Journal, Vol 134, Iss 2, Pp 171-175
ABSTRACT CONTEXT: Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births. Hepatoblastoma
Externí odkaz:
https://doaj.org/article/8a8f4fddb718435e93c4dce1263f42ef
Autor:
Ana Paula Nazario, Jair Ferreira, Lavínia Schuler-Faccini, Marilu Fiegenbaum, Osvaldo Artigalás, Fernanda Sales Luiz Vianna
Publikováno v:
Revista da Sociedade Brasileira de Medicina Tropical, Vol 50, Iss 2, Pp 251-255
Abstract INTRODUCTION: This study evaluated leprosy rates in Rio Grande do Sul, an area with a historically low prevalence. However, recent studies are lacking. METHODS: Data extracted from a National Database were analyzed for clinical features and
Externí odkaz:
https://doaj.org/article/e327ea0f1bff4432a4cfac47b333f656
Autor:
Tiago Finger Andreis, Kayana Isabel Weber de Souza, Igor Araujo Vieira, Bárbara Alemar, Marialva Sinigaglia, Yasminne Marinho de Araújo Rocha, Osvaldo Artigalás, Camila Bittar, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla, Clévia Rosset
Publikováno v:
Gene. 862:147281
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7fda1a9255f0b1a0e79205aa9a116fa
https://doi.org/10.1016/j.gene.2023.147281
https://doi.org/10.1016/j.gene.2023.147281
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:
Talita Aguiar, Anne Caroline Teixeira, Marília Scliar, Juliana Sobral, Renan B. Lemes, Silvia Souza Costa, Giovanna Tolezano, Fernanda Francisco, Israel Tojal, Mônica Cypriano, Silvia Toledo, Eugênia Valadares, Raquel Pinto, Osvaldo Artigalás, Joaquim Caetano de Aguirre Neto, Estela Novak, Lilian Maria Cristofani, Sofia Sugayama, Vicente Odone, Isabela Werneck, Cecilia da Costa, Carla Rosenberg, Ana Krepischi
Publikováno v:
Frontiers in genetics. 13
The ultrarare hepatoblastoma (HB) is the most common pediatric liver cancer. HB risk is related to a few rare syndromes, and the molecular bases remain elusive for most cases. We investigated the burden of rare damaging germline variants in 30 Brazil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adc28d29dc4c8d27fa889662cfd9582a
https://pubmed.ncbi.nlm.nih.gov/35495172
https://pubmed.ncbi.nlm.nih.gov/35495172