José Silva Ramos

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas

G. Isidro, Francisco Laranjeira, Ana Sofia Pires et al. · Human Mutation · 2004 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability

Cristina Albuquerque, Célia Baltazar, Bruno Filipe et al. · Genes Chromosomes and Cancer · 2010 · 61 citations

Life Sciences, Genetics, Oncology +17

A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14

Vânia Gonçalves, Patrícia Theisen, O. Antunes et al. · Mutation research. Fundamental and molecular mechanisms of mutagenesis · 2008 · 24 citations

Medicine, Genetics, Molecular Genetics +17