Rezultati pretrage - Cristina Brinckmann Oliveira Netto
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Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature od Larissa Brussa Reis, Daniele Konzen, Cristina Brinckmann Oliveira Netto, Pedro Moacir Braghirolli Braghini, Gabriel Prolla, Patrícia Ashton‐Prolla
Izdano 2020Revisão -
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Performance of the Gail and Tyrer-Cuzick breast cancer risk assessment models in women screened in a primary care setting with the FHS-7 questionnaire od Fernanda Sales Luiz Vianna, Juliana Giacomazzi, Cristina Brinckmann Oliveira Netto, Luciana Neves Nunes, Maira Caleffi, Patrícia Ashton‐Prolla, Suzi Alves Camey
Izdano 2019Artigo -
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Topiramate is effective for status epilepticus and seizure control in neuraminidase deficiency od José Augusto Bragatti, Carolina Machado Torres, Cristina Brinckmann Oliveira Netto, Leonardo Vedolin, Eliana Garzón, Carlos Roberto de Mello Rieder, Ida Vanessa Döederlein Schwartz, Marino Muxfeldt Bianchin
Izdano 2011Carta -
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Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer od Renan Gomes, Bárbara Luísa Soares, Paula Silva Felicio, Rodrigo Augusto Depieri Michelli, Cristina Brinckmann Oliveira Netto, Bárbara Alemar, Patrícia Ashton‐Prolla, Edenir Inêz Palmero, Miguel Ângelo Martins Moreira
Izdano 2020Artigo -
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Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy od Giovana Brondani Biancini, Camila Simioni Vanzin, Daiane B. Rodrigues, Marion Deon, Graziela S. Ribas, Alethéa Gatto Barschak, Vanusa Manfredini, Cristina Brinckmann Oliveira Netto, Laura Bannach Jardim, Roberto Giugliani, Carmen Regla Vargas
Izdano 2011Artigo -
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White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up od Laura Bannach Jardim, F. Aesse, Leonardo Vedolin, Cláudio Pitta-Pinheiro, João Marconato, Maira Graeff Burin, Cláudia Rafaela Cecchin, Cristina Brinckmann Oliveira Netto, Ursula S. Matte, Fernanda Pereira, Luciane Kalakun, Roberto Giugliani
Izdano 2006Artigo -
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Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state od Clévia Rosset, Mariane da Cunha Jaeger, Eduardo Cremonese Filippi‐Chiela, Larissa Brussa Reis, Ivaine Taís Sauthier Sartor, Cristina Brinckmann Oliveira Netto, Caroline Brunetto de Farias, Rafael Roesler, Patrícia Ashton‐Prolla
Izdano 2021Artigo -
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Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state od Clévia Rosset, Mariane da Cunha Jaeger, Eduardo Cremonese Filippi‐Chiela, Larissa Brussa Reis, Ivaine Taís Sauthier Sartor, Cristina Brinckmann Oliveira Netto, Caroline Brunetto de Farias, Rafael Roesler, Patrícia Ashton‐Prolla
Izdano 2022Conjunto de Dados -
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Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients od Dayse O. Alencar, Cristina Brinckmann Oliveira Netto, Patrícia Ashton‐Prolla, Roberto Giugliani, Ândrea Ribeiro‐dos‐Santos, Fernanda Pereira, Úrsula da Silveira Matte, Ney Pereira Carneiro dos Santos, Sidney Emanuel Batista dos Santos
Izdano 2014Artigo -
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BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for t... od Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Alfonso Pinto Artigalás, Ida Vanessa Döederlein Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey N. Weitzel, Patrícia Ashton‐Prolla
Izdano 2017Artigo -
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Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician od Cristina Rossi Giacomazzi, Juliana Giacomazzi, Cristina Brinckmann Oliveira Netto, Patrícia Santos-Silva, Simone Geiger de Almeida Selistre, Ana Luiza Maia, Viviane Ziebell de Oliveira, Suzi Alves Camey, José Roberto Goldim, Patrícia Ashton‐Prolla
Izdano 2015Revisão -
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Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment od Filippo Pinto e Vairo, Cristina Brinckmann Oliveira Netto, Alicia Dorneles, Suzana Mittelstadt, Matheus Vernet Machado Bressan Wilke, Divair Doneda, Kristiane Michelin, Camila Blos Ribeiro, Amanda Quevedo, Tatiane Alves Vieira, Tatiéle Nalin, Sônia Lueska, Ida Vanessa Döederlein Schwartz
Izdano 2013Artigo -
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Kidney Function and 24-Hour Proteinuria in Patients with Fabry Disease during 36 Months of Agalsidase Alfa Enzyme Replacement Therapy: A Brazilian Experience od Scheila Pretto Almeida Thofehrn, Cristina Brinckmann Oliveira Netto, Cláudia Rafaela Cecchin, Maira Graeff Burin, Úrsula da Silveira Matte, Sílvia Brustolin, Ane Cláudia Fernandes Nunes, Janice Carneiro Coelho, Marylin Tsao, Laura Bannach Jardim, Roberto Giugliani, Elvino José Guardão Barros
Izdano 2009Artigo -
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Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil od Larissa Souza Mario Bueno, Clévia Rosset, Ernestina Silva de Aguiar, Fernando de Souza Pereira, Patrícia Izetti Ribeiro, Rosana Scalco, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Guilherme Gischkow Rucatti, José Artur Bogo Chies, Suzi Alves Camey, Patrícia Ashton‐Prolla
Izdano 2015Artigo -
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TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients od Eriza Cristina Hahn, Camila Matzenbacher Bittar, Fernanda Sales Luis Vianna, Cristina Brinckmann Oliveira Netto, Jorge Villanova Biazús, Rodrigo Cericatto, José Antônio Crespo Cavalheiro, Márcia Portela de Melo, Carlos Henrique Menke, Eliane Goldberg Rabin, Sandra Leistner‐Segal, Patrícia Ashton‐Prolla
Izdano 2018Artigo
Alati za pretragu:
Povezani predmeti
Medicine
Biology
Internal medicine
Genetics
Gene
Mutation
Disease
Cancer
Pathology
Apoptosis
Breast cancer
Environmental health
Enzyme replacement therapy
Pediatrics
Population
Tuberous sclerosis
Biochemistry
Genotype
Haplotype
PI3K/AKT/mTOR pathway
Phenotype
TSC2
Allele
Chemistry
Endocrinology
Fabry disease
Founder effect
Genetic testing
Germline mutation
Oncology