Navegação Ciências da Saúde por Autor "Galera, Marcial Francis"

Resultados 1-2 de 2

    • Cytogenomic integrative network analysis of the critical region associated with Wolf-Hirschhorn Syndrome 

      Corrêa, Thiago; Mergener, Rafaella; Leite, Júlio César Loguercio; Galera, Marcial Francis; Moreira, Lília Maria de Azevedo; Vargas, José Eduardo; Riegel, Mariluce (2018) [Artigo de periódico]
      Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining ...

    • Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy 

      Pereira, Fernanda dos Santos; Matte, Ursula da Silveira; Habekost, Clarissa Troller; Castilhos, Raphael Machado de; El-Husny, Antonette Souto; Lourenço, Charles Marques; Vianna-Morgante, Angela M.; Giuliani, Liane de Rosso; Galera, Marcial Francis; Honjo, Raquel S.; Kim, Chong Ae; Politei, Juan Manuel; Vargas, Carmen Regla; Jardim, Laura Bannach (2012) [Artigo de periódico]
      In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential ...