Santos E

ORCID: 0000-0001-6301-7262 · 2 papers in corpus
2025
Premutation Females with preFXTAS.
International journal of molecular sciences ·doi:10.3390/ijms26062825

Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder associated with the FMR1 gene premutation, characterized by the presence of 55 to 200 CGG triplet repeat expansions. Although the initial sympto…

2015
Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.
Human molecular genetics ·doi:10.1093/hmg/ddu552

Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of Type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or epigenetic effects …