BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
Alemar, Bárbara, Gregório, Cleandra, Herzog, Josef, Matzenbacher Bittar, Camila, Brinckmann Oliveira Netto, Cristina, Artigalas, Osvaldo, Schwartz, Ida Vanessa D, Coffa, Jordy, Alves Camey, Suzi, Weitzel, Jeffrey, Ashton-Prolla, Patricia
Published in PloS one (21.11.2017)
Published in PloS one (21.11.2017)
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Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
Alemar, Bárbara, Gregório, Cleandra, Herzog, Josef, Matzenbacher Bittar, Camila, Brinckmann Oliveira Netto, Cristina, Artigalas, Osvaldo, Schwartz, Ida Vanessa D, Coffa, Jordy, Alves Camey, Suzi, Weitzel, Jeffrey, Ashton-Prolla, Patricia
Published in PloS one (11.05.2018)
Published in PloS one (11.05.2018)
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Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients
Mayer, Fabiana Quoos, Artigalás, Osvaldo Alfonso, Lagranha, Valeska Lizzi, Baldo, Guilherme, Schwartz, Ida Vanessa, Matte, Ursula, Giugliani, Roberto
Published in Current pharmaceutical biotechnology (01.02.2013)
Published in Current pharmaceutical biotechnology (01.02.2013)
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Diagnosis and Management of Classical Homocystinuria in Brazil
Poloni Soraia, Hoss, Giovana W, Sperb-Ludwig Fernanda, Borsatto Taciane, Doriqui Maria Juliana R, KEA, Leão Emília, Boa-Sorte Ney, Lourenço, Charles M, Kim, Chong A, de Souza Carolina F M, Rocha Helio, Ribeiro, Marcia, Steiner, Carlos E, Moreno, Carolina A, Bernardi Pricila, Valadares Eugenia, Artigalas Osvaldo, Carvalho Gerson, Wanderley Hector Y C, D’Almeida Vânia, Santana-da-Silva, Luiz C, Blom, Henk J, Schwartz Ida V D
Published in Journal of inborn errors of metabolism and screening (01.08.2018)
Published in Journal of inborn errors of metabolism and screening (01.08.2018)
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Influence of CYP19A1 polymorphisms on the treatment of breast cancer with aromatase inhibitors: a systematic review and meta-analysis
Artigalás, Osvaldo, Vanni, Tazio, Hutz, Mara Helena, Ashton-Prolla, Patricia, Schwartz, Ida Vanessa
Published in BMC medicine (11.06.2015)
Published in BMC medicine (11.06.2015)
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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes
Aguiar, Talita, Teixeira, Anne, Scliar, Marília O, Sobral de Barros, Juliana, Lemes, Renan B, Souza, Silvia, Tolezano, Giovanna, Santos, Fernanda, Tojal, Israel, Cypriano, Monica, Caminada de Toledo, Silvia Regina, Valadares, Eugênia, Borges Pinto, Raquel, Pinto Artigalas, Osvaldo Afonso, Caetano de Aguirre Neto, Joaquim, Novak, Estela, Cristofani, Lilian Maria, Miura Sugayama, Sofia M, Odone, Vicente, Cunha, Isabela Werneck, Lima da Costa, Cecilia Maria, Rosenberg, Carla, Krepischi, Ana
Published in Frontiers in genetics (12.04.2022)
Published in Frontiers in genetics (12.04.2022)
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Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis
Dornelles, Alícia Dorneles, Artigalás, Osvaldo, da Silva, André Anjos, Ardila, Dora Lucia Vallejo, Alegra, Taciane, Pereira, Tiago Veiga, Vairo, Filippo Pinto E, Schwartz, Ida Vanessa Doederlein
Published in PloS one (31.08.2017)
Published in PloS one (31.08.2017)
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Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil
Matzenbacher Bittar, Camila, de Araújo Rocha, Yasminne Marinho, Vieira, Igor Araujo, Rosset, Clévia, Andreis, Tiago Finger, Sartor, Ivaine Tais Sauthier, Artigalás, Osvaldo, Netto, Cristina B. O, Alemar, Barbara, Macedo, Gabriel S, Ashton-Prolla, Patricia
Published in PloS one (16.09.2021)
Published in PloS one (16.09.2021)
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Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient
Artigalás, Osvaldo Alfonso, da Silva, Luiz Roberto, Burin, Maira, Pastores, Gregory M, Zeng, Bai, Macedo, Nívea, Schwartz, Ida Vanessa Doederlein
Published in Metabolic brain disease (01.09.2009)
Published in Metabolic brain disease (01.09.2009)
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Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance
Andreis, Tiago Finger, de Souza, Kayana Isabel Weber, Vieira, Igor Araujo, Alemar, Bárbara, Sinigaglia, Marialva, de Araújo Rocha, Yasminne Marinho, Artigalás, Osvaldo, Bittar, Camila, Oliveira Netto, Cristina Brinckmann, Ashton-Prolla, Patricia, Rosset, Clévia
Published in Gene (30.04.2023)
Published in Gene (30.04.2023)
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Inclusion of medical genetics in primary health care: report of a pilot project in Brazil
Vieira, Taiane Alves, Giugliani, Camila, da Silva, Larissa Pozzebon, Faccini, Lavínia Schuler, Loguercio Leite, Júlio César, Artigalás, Osvaldo Alfonso Pinto, Medeiros Lenz, Maria Lúcia, Muñoz-Rojas, Maria Verónica, Giugliani, Roberto
Published in Journal of community genetics (01.01.2013)
Published in Journal of community genetics (01.01.2013)
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CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus
de Queiroz Júnior, Amaro Freire, Sanseverino, Maria Teresa Vieira, Collares, Marcus Vinicius Martins, nari, Adriana, do Virmond, Luiza Amaral, Bosco Filho, João Oliveira, Artigalás, Osvaldo, Félix, Têmis Maria
Published in American journal of medical genetics. Part A (16.08.2024)
Published in American journal of medical genetics. Part A (16.08.2024)
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TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling
Bittar, Camila Matzenbacher, Vieira, Igor Araujo, Sabato, Cristina Silva, Andreis, Tiago Finger, Alemar, Bárbara, Artigalás, Osvaldo, Galvão, Henrique de Campos Reis, Macedo, Gabriel S., Palmero, Edenir Inez, Ashton-Prolla, Patricia
Published in Familial cancer (01.10.2019)
Published in Familial cancer (01.10.2019)
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Leprosy in Southern Brazil: a twenty-year epidemiological profile
Nazario, Ana Paula, Ferreira, Jair, Schuler-Faccini, Lavínia, Fiegenbaum, Marilu, Artigalás, Osvaldo, Vianna, Fernanda Sales Luiz
Published in Revista da Sociedade Brasileira de Medicina Tropical (01.03.2017)
Published in Revista da Sociedade Brasileira de Medicina Tropical (01.03.2017)
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Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease
Garcia, Antonio Milton Lima, Morais, Norma Martins Menezes, Ohlweiler, Lygia, Winckler, Maria Isabel Bragatti, Ranzan, Josiane, Artigalás, Osvaldo Alfonso Pinto, Pinto, Luise Lapagesse de Camargo, Netto, Cristina Brinckmann Oliveira, Ashton-Prolla, Patrícia, Vedolin, Leonardo, Riesgo, Rudimar dos Santos, Rotta, Newra Tellechea
Published in Arquivos de neuro-psiquiatria (01.10.2010)
Published in Arquivos de neuro-psiquiatria (01.10.2010)
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MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy
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Published in Arquivos de neuro-psiquiatria (01.08.2010)
Published in Arquivos de neuro-psiquiatria (01.08.2010)
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Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations
Alemar, Bárbara, Herzog, Josef, Brinckmann Oliveira Netto, Cristina, Artigalás, Osvaldo, Schwartz, Ida Vanessa D, Matzenbacher Bittar, Camila, Ashton-Prolla, Patricia, Weitzel, Jeffrey N
Published in Cancer genetics (01.09.2016)
Published in Cancer genetics (01.09.2016)
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Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
Giugliani, Roberto, Federhen, Andressa, Rojas, Maria Verônica Muñoz, Vieira, Taiane, Artigalás, Osvaldo, Pinto, Louise Lapagesse, Azevedo, Ana Cecília, Acosta, Angelina, Bonfim, Carmen, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne, Bonfim, Denize, Norato, Denise, Marinho, Diane, Palhares, Durval, Santos, Emerson Santana, Ribeiro, Erlane, Valadares, Eugênia, Guarany, Fábio, de Lucca, Gisele Rosone, Pimentel, Helena, de Souza, Isabel Neves, Correa, Sr, Jordão, Fraga, José Carlos, Goes, José Eduardo, Cabral, José Maria, Simionato, José, Llerena, Jr, Juan, Jardim, Laura, Giuliani, Liane, da Silva, Luiz Carlos Santana, Santos, Mara L, Moreira, Maria Angela, Kerstenetzky, Marcelo, Ribeiro, Márcia, Ruas, Nicole, Barrios, Patricia, Aranda, Paulo, Honjo, Rachel, Boy, Raquel, Costa, Ronaldo, Souza, Carolina, Alcantara, Flavio F, Avilla, Silvio Gilberto A, Fagondes, Simone, Martins, Ana Maria
Published in Genetics and molecular biology (01.01.2010)
Published in Genetics and molecular biology (01.01.2010)
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Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI
Azevedo, Ana C. M., Artigalás, Osvaldo, Vedolin, Leonardo, Komlós, Márcia, Pires, Adriana, Giugliani, Roberto, Schwartz, Ida Vanessa D.
Published in Journal of inherited metabolic disease (01.03.2013)
Published in Journal of inherited metabolic disease (01.03.2013)
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CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
Silveira, Karina C., Fonseca, Inara Chacon, Oborn, Connor, Wengryn, Parker, Ghafoor, Saima, Beke, Alexander, Dreseris, Ema S., Wong, Cassandra, Iacovone, Aline, Soltys, Carrie-Lynn, Babul-Hirji, Riyana, Artigalas, Osvaldo, Antolini-Tavares, Arthur, Gingras, Anne-Claude, Campos, Eric, Cavalcanti, Denise P., Kannu, Peter
Published in Human genetics (01.11.2023)
Published in Human genetics (01.11.2023)
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