Publicaciones en las que colabora con ELADIO ANDRES VELASCO SAMPEDRO (20)

2024

  1. 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

2022

  1. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants

    Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101

2020

  1. Editorial: RNA Splicing and Backsplicing: Disease and Therapy

    Frontiers in Genetics

2019

  1. 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. 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

  2. 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

2015

  1. Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons

    Human Mutation, Vol. 36, Núm. 2, pp. 210-221

2005

  1. Mutaciones en BRCA1 y BRCA2 en pacientes con historia familiar de cáncer de mama

    Medicina Clinica, Vol. 124, Núm. 1, pp. 10-12

1998

  1. Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7

    Cytogenetics and Cell Genetics, Vol. 83, Núm. 3-4, pp. 176-181

  2. Estudio clínico y genético de tres familias afectadas por la enfermedad de Darier

    Actas Dermo-Sifiliograficas, Vol. 89, Núm. 10, pp. 519-529

1997

  1. Identification of de novo deletions at the NF1 gene: No preferential paternal origin and phenotypic analysis of patients

    Human Genetics, Vol. 99, Núm. 6, pp. 720-726

1996

  1. Erratum: Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of (C)BCD541 and SMA phenotype (Human Molecular Genetics (1996) 5 (257-263))

    Human Molecular Genetics

  2. Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling

    Journal of Medical Genetics, Vol. 33, Núm. 7, pp. 590-593

  3. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

    Human Molecular Genetics, Vol. 5, Núm. 2, pp. 257-263

1995

  1. Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q

    Human Genetics, Vol. 95, Núm. 5, pp. 601-602

  2. Isolation of microsatellites from the spinal muscular atrophy (SMA) candidate region on chromosome 5q and linkage analysis in Spanish SMA families

    European Journal of Human Genetics, Vol. 3, Núm. 2, pp. 96-101

1994

  1. Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)

    Human Molecular Genetics, Vol. 3, Núm. 4, pp. 639-641

  2. Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci

    Human Molecular Genetics

1992

  1. Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32)

    Human Molecular Genetics