Publicaciones en las que colabora con EDUARDO DÍAZ-RUBIO GARCÍA (43)

2019

  1. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: An ENIGMA report

    Journal of Medical Genetics, Vol. 56, Núm. 7, pp. 453-460

  2. Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing

    Scientific Reports, Vol. 9, Núm. 1

  3. Nasoethmoidal Intestinal-Type Adenocarcinoma Treated with Cetuximab: Role of Liquid Biopsy and BEAMing in Predicting Response to Anti-Epidermal Growth Factor Receptor Therapy

    Oncologist, Vol. 24, Núm. 3, pp. 293-300

2018

  1. Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

    PLoS ONE, Vol. 13, Núm. 9

2017

  1. Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome

    PLoS ONE, Vol. 12, Núm. 11

2016

  1. BRCA2 gene mutations and coagulation-associated biomarkers

    Thrombosis and Haemostasis, Vol. 115, Núm. 2, pp. 415-423

2014

  1. Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants

    Human Mutation, Vol. 35, Núm. 1, pp. 53-57

  2. Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers

    Breast Cancer Research and Treatment, Vol. 148, Núm. 2, pp. 415-421

2013

  1. Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.

    PloS one, Vol. 8, Núm. 9

  2. Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families

    European Journal of Human Genetics, Vol. 21, Núm. 8, pp. 883-886

2012

  1. Changes in the expression of plasma proteins associated with thrombosis in BRCA1 mutation carriers

    Journal of Cancer Research and Clinical Oncology, Vol. 138, Núm. 5, pp. 867-875

  2. Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: Review of the literature, and reevaluation of the genetic mechanisms involved in their origin

    Breast Cancer Research and Treatment, Vol. 133, Núm. 1, pp. 273-283

2011

  1. A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families

    Breast Cancer Research and Treatment, Vol. 129, Núm. 3, pp. 939-946

2010

  1. APC Yin-Yang haplotype associated with colorectal cancer risk

    Experimental and Therapeutic Medicine, Vol. 1, Núm. 5, pp. 879-883

  2. Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study

    Clinical Chemistry, Vol. 56, Núm. 1, pp. 53-61

  3. Celecoxib in a 12-year-old boy with familial adenomatous polyposis

    International Journal of Clinical Pharmacology and Therapeutics, Vol. 48, Núm. 3, pp. 230-232

  4. Reassessing the TARBP2 mutation rate in hereditary nonpolyposis colorectal cancer

    Nature Genetics

2008

  1. Lynch syndrome in a 15-year-old boy

    European Journal of Pediatrics, Vol. 167, Núm. 10, pp. 1213-1215

  2. Risk-reduction surgery in BRCA mutation carriers in a Spanish population: Adherence and results

    Clinical and Translational Oncology, Vol. 10, Núm. 10, pp. 660-664

2007

  1. Iatrogenic intestinal obstruction: a rare complication of capsule endoscopy in a patient with familial adenomatous polyposis.

    Endoscopy, Vol. 39 Suppl 1