TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

by Clévia Rosset, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla

Knowledge about breast cancer and hereditary breast cancer among nurses in a public hospital

by Carmen Maria Dornelles Prolla, Patrícia Santos da Silva, Cristina Brinckmann Oliveira Netto, José Roberto Goldim, Patricia Ashton-Prolla
Published 2015-02-01

Adherence to Treatment of Phenylketonuria

by Tatiane Alves Vieira, Tatiéle Nalin, Bárbara Correa Krug, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Ida Vanessa Doederlein Schwartz
Published 2015-05-01

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

by Fernanda Sales Luiz Vianna, Juliana Giacomazzi, Cristina Brinckmann Oliveira Netto, Luciana Neves Nunes, Maira Caleffi, Patricia Ashton-Prolla, Suzi Alves Camey

Topiramate is effective for status epilepticus and seizure control in neuraminidase deficiency

by José Augusto Bragatti, Carolina Machado Torres, Cristina Brinckmann Oliveira Netto, Leonardo Vedolin, Eliana Garzon, Carlos Roberto de Mello Rieder, Ida Vanessa Doederlein Schwartz, Marino Muxfeldt Bianchin
Published 2011-06-01

Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appro...

by Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla
Published 2018-01-01

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...

by Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla
Published 2017-01-01

Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil

by Larissa Souza Mario Bueno, Clévia Rosset, Ernestina Aguiar, Fernando de Souza Pereira, Patrícia Izetti Ribeiro, Rosana Scalco, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Guilherme Gischkow Rucatti, José Artur Chies, Suzi Alves Camey, Patricia Ashton-Prolla
Published 2015-01-01

TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients.

by Eriza Cristina Hahn, Camila Matzenbacher Bittar, Fernanda Sales Luis Vianna, Cristina Brinckmann Oliveira Netto, Jorge Villanova Biazús, Rodrigo Cericatto, José Antônio Cavalheiro, Márcia Portela de Melo, Carlos Henrique Menke, Eliane Rabin, Sandra Leistner-Segal, Patricia Ashton-Prolla
Published 2018-01-01

Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease Espessamento de vias ópticas e leucodistrofia: um achado pouco freqüente da f...

by Antonio Milton Lima Garcia, Norma Martins Menezes Morais, Lygia Ohlweiler, Maria Isabel Bragatti Winckler, Josiane Ranzan, Osvaldo Alfonso Pinto Artigalás, Luise Lapagesse de Camargo Pinto, Cristina Brinckmann Oliveira Netto, Patrícia Ashton-Prolla, Leonardo Vedolin, Rudimar dos Santos Riesgo, Newra Tellechea Rotta
Published 2010-10-01

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

by Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Rudinei Luis Correia, Fernanda Veiga de Goes, Raquel Tavares Boy da Silva, Larissa Souza Mario Bueno, Mireille Caroline Silva de Miranda Gomes, Henrique de Campos Reis Galvão, João I C F Neri, Maria Isabel Achatz, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla
Published 2017-01-01