MARIA EUGENIA FRAILE BETHENCOURT-rekin lankidetzan egindako argitalpenak (9)

2022

  1. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants

    Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334

2020

  1. Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the rad51c gene

    Cancers, Vol. 12, Núm. 12, pp. 1-21

2019

  1. Minigene splicing assays identify 12 spliceogenic variants of BRCA2 exons 14 and 15

    Frontiers in Genetics, Vol. 10, Núm. MAY

  2. Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays

    Journal of Pathology, Vol. 248, Núm. 4, pp. 409-420

2018

  1. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study

    Human Mutation, Vol. 39, Núm. 9, pp. 1155-1160

  2. Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome

    Frontiers in Genetics, Vol. 9, Núm. JAN

  3. Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants

    Breast Cancer Research and Treatment, Vol. 171, Núm. 1, pp. 53-63

  4. Identification of eight spliceogenic variants in BRCA2 Exon 16 by minigene assays

    Frontiers in Genetics, Vol. 9, Núm. MAY

2017

  1. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18

    PLoS Genetics, Vol. 13, Núm. 3