Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil von Bittar, Camila Matzenbacher, de Araujo Rocha, Yasminne Marinho, Vieira, Igor Araujo, Rosset, Clevia, Andreis, Tiago Finger, Sauthier Sartor, Ivaine Tais, Artigalas, Osvaldo, Netto, Cristina B. O., Alemar, Barbara, Macedo, Gabriel S., Ashton-Prolla, Patricia

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Increased oxidative damage in carriers of the germline TP53 p.R337H mutation von Macedo, Gabriel S, Lisbôa da Motta, Leonardo, Giacomazzi, Juliana, Netto, Cristina B O, Manfredini, Vanusa, Vanzin, Camila S, Vargas, Carmen Regla, Hainaut, Pierre, Klamt, Fábio, Ashton-Prolla, Patricia

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Clinical aspects of neuropathic lysosomal storage disorders von Jardim, Laura Bannach, Villanueva, Maria Mercedes, Souza, Carolina F. Moura de, Netto, Cristina B. Oliveira

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

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Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy von Biancini, Giovana B., Vanzin, Camila S., Rodrigues, Daiane B., Deon, Marion, Ribas, Graziela S., Barschak, Alethéa G., Manfredini, Vanusa, Netto, Cristina B.O., Jardim, Laura B., Giugliani, Roberto, Vargas, Carmen R.

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Li‐Fraumeni and Li‐Fraumeni—like syndrome among children diagnosed with pediatric cancer in Southern Brazil von Giacomazzi, Juliana, Selistre, Simone G., Rossi, Cristina, Alemar, Barbara, Santos‐Silva, Patricia, Pereira, Fernando S., Netto, Cristina B., Cossio, Silvia L., Roth, Daniela E., Brunetto, Algemir L., Zagonel‐Oliveira, Marcelo, Martel‐Planche, Ghyslaine, Goldim, Jose R., Hainaut, Pierre, Camey, Suzi A., Ashton‐Prolla, Patricia

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Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review von Doneda, Divair, Netto, Cristina B, Moulin, Cileide C, Schwartz, Ida Vanessa D

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Hyperimmunoglobulinemia in pediatric Gaucher patients in Southern Brazil von Vairo, Filippo, Alegra, Taciane, Dornelles, Alicia, Mittelstadt, Suzana, Netto, Cristina B.O., Schwartz, Ida V.D.

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Serum S100B Protein Is Increased in Fasting Rats von Netto, Cristina B.O., Conte, Sabrina, Leite, Marina C., Pires, Caroline, Martins, Tiago L., Vidal, Penélope, Benfato, Mara S., Giugliani, Roberto, Gonçalves, Carlos-Alberto

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Gaucher disease type I: Assessment of basal metabolic rate in patients from southern Brazil von Doneda, Divair, Lopes, André L., Oliveira, Álvaro R., Netto, Cristina B., Moulin, Cileide C., Schwartz, Ida V.D.

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Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease von Oliveira, Fabiane Lopes, Alegra, Taciane, Dornelles, Alicia, Krug, Bárbara Corrêa, Netto, Cristina B. O., da Rocha, Neusa Sica, Picon, Paulo D., Schwartz, Ida Vanessa D.

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White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up von Jardim, Laura B, Aesse, Flávio, Vedolin, Leonardo M, Pitta-Pinheiro, Cláudio, Marconato, João, Burin, Maira G, Cecchin, Cláudia, Netto, Cristina B O, Matte, Ursula S, Pereira, Fernanda, Kalakun, Luciane, Giugliani, Roberto

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Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil von Matzenbacher Bittar, Camila, de Araujo Rocha, Yasminne Marinho, Vieira, Igor Araujo, Rosset, Clevia, Andreis, Tiago Finger, Sartor, Ivaine Tais Sauthier, Artigalas, Osvaldo S., Netto, Cristina B. O., Alemar, Barbara, Macedo, Gabriel, Ashton-Prolla, Patricia

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The germline mutational landscape of BRCA1 and BRCA2 in Brazil von Palmero, Edenir Inêz, Carraro, Dirce Maria, Alemar, Barbara, Moreira, Miguel Angelo Martins, Ribeiro-Dos-Santos, Ândrea, Abe-Sandes, Kiyoko, Galvão, Henrique Campos Reis, Reis, R. M., de Pádua Souza, Cristiano, Campacci, Natalia, et. al

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Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer von Gomes, Renan, Soares, Barbara Luisa, Felicio, Paula Silva, Michelli, Rodrigo, Netto, Cristina B. O., Alemar, Barbara, Ashton-Prolla, Patricia, Palmero, Edenir Inez, Martins Moreira, Miguel Angelo

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S100B content and SOD activity in amniotic fluid of pregnancies with Down syndrome von Netto, Cristina B, Siqueira, Ionara R, Fochesatto, Cı́ntia, Portela, Luis V, Tavares, Maria da Purificação, Souza, Diogo O, Giugliani, Roberto, Gonçalves, Carlos-Alberto

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Does hyperferritinemia reflect iron overload in Gaucher disease? von Koppe, Tiago B., Vairo, Filipp, Doneda, Divair, Netto, Cristina B., Schwartz, Ida D.

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Ontogenetic changes in serum S100B in Down syndrome patients von Netto, Cristina B.O., Portela, Luis V., Ferreira, Cristina T., Kieling, Carlos, Matte, Ursula, Felix, Têmis, Silveira, Themis Reverbel da, Souza, Diogo O., Gonçalves, Carlos-Alberto, Giugliani, Roberto

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Serum S100B levels in patients with neural tube defects von Netto, Cristina B.O., Portela, Luis V., Félix, Têmis M., Souza, Diogo O., Gonçalves, Carlos-Alberto, Giugliani, Roberto

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Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer von Gomes, Renan, Soares, Barbara Luisa, Felicio, Paula Silva, Michelli, Rodrigo, Netto, Cristina B. O., Alemar, Barbara, Ashton-Prolla, Patrícia, Edenir Inêz Palmero, Moreira, Miguel Ângelo Martins

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