Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario La Fe (12)

2024

  1. Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

2021

  1. Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome

    Cancer Communications, Vol. 41, Núm. 3, pp. 218-228

2019

  1. Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: Diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)

    Hereditary Cancer in Clinical Practice, Vol. 17, Núm. 1

2018

  1. Successful induction therapy with sequential CVD followed by high-dose lanreotide in for metastatic SDHB paraganglioma: Case report

    Journal of Clinical and Translational Endocrinology: Case Reports, Vol. 7, pp. 8-13

2017

  1. Characterization of a novel POLD1 missense founder mutation in a Spanish population

    Journal of Gene Medicine, Vol. 19, Núm. 4

  2. 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

2014

  1. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

    Human Molecular Genetics, Vol. 23, Núm. 13, pp. 3506-3512

  2. Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

    European Journal of Cancer, Vol. 50, Núm. 13, pp. 2241-2250

2012

  1. Recurrent testicular germ cell tumors in a family with MYH-Associated polyposis

    Journal of Clinical Oncology, Vol. 30, Núm. 23

2011

  1. Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

    BMC Medical Genetics, Vol. 12

2010

  1. Antimicrobial resistance among respiratory pathogens in Spain: Latest data and changes over 11 years (1996-1997 to 2006-2007)

    Antimicrobial Agents and Chemotherapy, Vol. 54, Núm. 7, pp. 2953-2959

  2. EPCAM germ line deletions as causes of lynch syndrome in Spanish patients

    Journal of Molecular Diagnostics, Vol. 12, Núm. 6, pp. 765-770