Publications en collaboration avec des chercheurs de Hospital Clínico San Carlos de Madrid (8)

2022

  1. Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2020

  1. Clinical and Pathological Characterization of Lynch-Like Syndrome

    Clinical Gastroenterology and Hepatology, Vol. 18, Núm. 2, pp. 368-374.e1

  2. Role of guca1c in primary congenital glaucoma and in the retina: Functional evaluation in zebrafish

    Genes, Vol. 11, Núm. 5

2018

  1. Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

    Gastroenterology, Vol. 154, Núm. 1, pp. 181-194.e20

2017

  1. Performance of a quantitative pcrbased assay and beta-D-glucan detection for diagnosis of invasive candidiasis in very-low-birth-weight preterm neonatal patients (candineo study)

    Journal of Clinical Microbiology, Vol. 55, Núm. 9, pp. 2752-2764

2015

  1. Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

    Gastroenterology, Vol. 149, Núm. 3, pp. 563-566

2014

  1. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 3, pp. 260-266

2007

  1. p53 genetic abnormalities and P-glycoprotein expression in stump and primary gastric carcinomas

    Hepato-Gastroenterology, Vol. 54, Núm. 74, pp. 377-381