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

por Rosset, Clévia, Netto, Cristina Brinckmann Oliveira, Ashton-Prolla, Patricia
Publicado 2017

Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review

por Doneda, Divair, Netto, Cristina B, Moulin, Cileide C, Schwartz, Ida Vanessa D
Publicado 2013

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

por Prolla, Carmen Maria Dornelles, da Silva, Patrícia Santos, Netto, Cristina Brinckmann Oliveira, Goldim, José Roberto, Ashton-Prolla, Patricia
Publicado 2015

Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature

por Reis, Larissa Brussa, Konzen, Daniele, Netto, Cristina Brinckmann Oliveira, Braghini, Pedro Moacir Braghirolli, Prolla, Gabriel, Ashton-Prolla, Patricia
Publicado 2020

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

por de Alencar, Dayse Oliveira, Netto, Cristina, Ashton-Prolla, Patricia, Giugliani, Roberto, Ribeiro-dos-Santos, Ândrea, Pereira, Fernanda, Matte, Ursula, Santos, Ney, Santos, Sidney
Publicado 2014

Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1

por Gregório, Cleandra, Rosset, Clévia, Alves, Laura da Silva, Netto, Cristina Brinkmann Oliveira, Machado, Simone Marcia dos Santos, Bersch, Vivian Pierri, Osvaldt, Alessandro Bersch, Ashton-Prolla, Patricia
Publicado 2020

Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer

por Gomes, Renan, Soares, Barbara Luisa, Felicio, Paula Silva, Michelli, Rodrigo, Netto, Cristina B. O., Alemar, Barbara, Ashton-Prolla, Patrícia, Palmero, Edenir Inêz, Moreira, Miguel Ângelo Martins
Publicado 2020

Increased Oxidative Damage in Carriers of the Germline TP53 p.R337H Mutation

por Macedo, Gabriel S., Lisbôa da Motta, Leonardo, Giacomazzi, Juliana, Netto, Cristina B. O., Manfredini, Vanusa, S.Vanzin, Camila, Vargas, Carmen Regla, Hainaut, Pierre, Klamt, Fábio, Ashton-Prolla, Patricia
Publicado 2012

TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient

por Giacomazzi, Juliana, Selistre, Simone, Duarte, Juliana, Ribeiro, Jorge Pinto, Vieira, Paulo JC, de Souza Macedo, Gabriel, Rossi, Cristina, Czepielewski, Mauro, Netto, Cristina Brinkmann Oliveira, Hainaut, Pierre, Ashton-Prolla, Patricia
Publicado 2013

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...

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

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

por 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
Publicado 2018

Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil

por Palmero, Edenir I., Caleffi, Maira, Schüler-Faccini, Lavínia, Roth, Fernanda L., Kalakun, Luciane, Netto, Cristina Brinkmann Oliveira, Skonieski, Giovana, Giacomazzi, Juliana, Weber, Bernadete, Giugliani, Roberto, Camey, Suzi A., Ashton-Prolla, Patricia
Publicado 2009

Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil

por 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
Publicado 2021

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

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

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

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

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

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

The germline mutational landscape of BRCA1 and BRCA2 in Brazil

por Palmero, Edenir Inêz, Carraro, Dirce Maria, Alemar, Barbara, Moreira, Miguel Angelo Martins, Ribeiro-dos-Santos, Ândrea, Abe-Sandes, Kiyoko, Galvão, Henrique Campos Reis, Reis, Rui Manuel, de Pádua Souza, Cristiano, Campacci, Natalia, Achatz, Maria Isabel, Brianese, Rafael Canfield, da Cruz Formiga, Maria Nirvana, Makdissi, Fabiana Baroni, Vargas, Fernando Regla, Evangelista dos Santos, Anna Cláudia, Seuanez, Hector N., Lobo de Souza, Kelly Rose, Netto, Cristina B. O., Santos-Silva, Patrícia, da Silva, Gustavo Stumpf, Burbano, Rommel M. R., Santos, Sidney, Assumpção, Paulo Pimentel, Bernardes, Izabel Maria Monteiro, Machado-Lopes, Taisa Manuela Bonfim, Bomfim, Thais Ferreira, Toralles, Maria Betânia Pereira, Nascimento, Ivana, Garicochea, Bernardo, Simon, Sergio D., Noronha, Simone, de Lima, Fernanda Teresa, Chami, Anisse Marques, Bittar, Camila Matzenbacher, Bines, Jose, Artigalas, Osvaldo, Esteves-Diz, Maria Del Pilar, Lajus, Tirzah Braz Petta, Gifoni, Ana Carolina Leite Vieira Costa, Guindalini, Rodrigo S. C., Cintra, Terezinha Sarquis, Schwartz, Ida V. D., Bernardi, Pricila, Miguel, Diego, Nogueira, Sonia Tereza dos Santos, Herzog, Josef, Weitzel, Jeffrey N., Ashton-Prolla, Patricia
Publicado 2018