Patrícia Ashton‐Prolla

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families

Maria Isabel Achatz, Magali Olivier, Florence Le Calvez‐Kelm et al. · Cancer Letters · 2006 · 211 citations

Life Sciences, Genetics, Molecular Genetics +10

Detailed haplotype analysis at the<i>TP53</i>locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect

Sonia Garritano, Federica Gemignani, Edenir Inêz Palmero et al. · Human Mutation · 2009 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

Edenir Inêz Palmero, Lavínia Schüler‐Faccini, Maira Caleffi et al. · Cancer Letters · 2008 · 133 citations

Life Sciences, Genetics, Oncology +13

Geographic and age variations in mutational processes in colorectal cancer

Marcos Díaz‐Gay, Wellington dos Santos, Sarah Moody et al. · Nature · 2025 · 123 citations · Full text

Medicine, Genetics, Oncology +16

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

Patrícia Ashton‐Prolla, Bingdu Tong, Junaid Shabbeer et al. · PubMed · 2000 · 115 citations

Life Sciences, Genetics, Molecular Genetics +16