Listar Ciencias Exactas y Naturales por autor "Vargas, Fernando Regla"

Mostrando ítems 1-3 de 3

    • CHEK2 1100delC germline mutation : a frequency study in hereditary breast and colon cancer Brazilian families 

      Abud, Jamile; Prolla, João Carlos; Rossi, Cristina; Palmero, Edenir Inêz; Vargas, Fernando Regla; Nunes, Luciana Neves; Achatz, Maria Isabel Alves de Souza Waddington; Moreira, Miguel Angelo Martins; Prolla, Patrícia Ashton; Izetti, Patricia; Cossio, Silvia Liliana (2012) [Artículo de periódico]
      Introdução - CHEK2 codifica uma proteína quinase envolvida em um ponto de checagem do ciclo celular que desempenha um papel importante na via de reparação do DNA, danos ativados principalmente por ATM (Ataxia Telangiectasia ...

    • Prevalence of the BRCA1 founder mutation c.5266dup in brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome 

      Ewald, Ingrid Petroni; Ribeiro, Patrícia Lisbôa Izetti; Vargas, Fernando Regla; Moreira, Miguel Angelo Martins; Moreira, Aline S.; Moreira Filho, Carlos Alberto; Cunha, Danielle Renzoni; Hamaguchi, Sara; Camey, Suzi Alves; Schmidt, Aishameriane Venes; Caleffi, Maira; Santos, Patrícia Koehler dos; Giugliani, Roberto; Prolla, Patrícia Ashton (2011) [Artículo de periódico]
      About 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas ...

    • The progression rate of spinocerebellar ataxia type 2 changes with stage of disease 

      Monte, Thais Lampert; Reckziegel, Estela da Rosa; Augustin, Marina Coutinho; Coelho, Lucas Dorídio Locks; Santos, Amanda Senna Pereira dos; Furtado, Gabriel Vasata; Mattos, Eduardo Preusser de; Pedroso, José Luiz; Barsottini, Orlando Graziani Povoas; Vargas, Fernando Regla; Pereira, Maria Luiza Saraiva; Camey, Suzi Alves; Leotti, Vanessa Bielefeldt; Jardim, Laura Bannach (2018) [Artículo de periódico]
      Background: Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. ...