José Alberto
Escudero Valenzuela
Publicaciones en las que colabora con José Alberto Escudero Valenzuela (14)
2024
-
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants
Journal of Pathology, Vol. 262, Núm. 4, pp. 395-409
-
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338
2022
-
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C
Cancers, Vol. 14, Núm. 12
-
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101
-
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
Cancers, Vol. 14, Núm. 18
-
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
2021
2020
-
Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the rad51c gene
Cancers, Vol. 12, Núm. 12, pp. 1-21
-
UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays
Frontiers in Genetics, Vol. 11
2019
-
Minigene splicing assays identify 12 spliceogenic variants of BRCA2 exons 14 and 15
Frontiers in Genetics, Vol. 10, Núm. MAY
-
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
-
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
-
Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants
Breast Cancer Research and Treatment, Vol. 171, Núm. 1, pp. 53-63
-
Identification of eight spliceogenic variants in BRCA2 Exon 16 by minigene assays
Frontiers in Genetics, Vol. 9, Núm. MAY