Navegação Ciências da Saúde por Assunto "Haplotipos"

Resultados 1-3 de 3

    • Population-specific genetic modification of Huntington's disease in Venezuela 

      Chao, Michael J.; Kim, Kyung Hee; Shin, Ju Wan; Lucente, Diane E.; Wheeler, Vanessa C.; Li, Hong; Roach, Jared C.; Hood, Leroy; Wexler, Nancy S.; Jardim, Laura Bannach; Holmans, Peter; Jones, Lesley A.; Orth, Michael; Kwak, Seung P.; MacDonald, Marcy E.; Gusella, James F.; Lee, Jong Min (2018) [Artigo de periódico]
      Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study discovered genetic modifiers of Huntington's disease (HD) onset ...

    • The role of uncoupling protein 2 (UCP2) on the development of type 2 diabetes mellitus and its chronic complications 

      Souza, Bianca Marmontel de; Assmann, Taís Silveira; Kliemann, Lucia Maria; Gross, Jorge Luiz; Canani, Luis Henrique Santos; Crispim, Daisy (2011) [Artigo de periódico]
      Está bem estabelecido que fatores genéticos têm papel importante no desenvolvimento do diabetes melito tipo 2 (DM2) bem como de suas complicações crônicas e que indivíduos geneticamente suscetíveis podem desenvolver essa ...

    • TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child - evidence for chimerism involving a common mutant founder haplotype : case report 

      Silva, Edaise M. da; Achatz, Maria Isabel Alves de Souza Waddington; Martel-Planche, Ghyslaine; Montagnini, André L.; Olivier, Magali; Prolla, Patrícia Ashton; Hainaut, Pierre; Soares, Fernando A. (2011) [Artigo de periódico]
      Background: Gastric adenocarcinoma is rare in children and adolescents, with about 17 cases under age 21 in the world’s literature. We report a case of invasive well-differentiated metastatic gastric cancer in a Brazilian ...