Publications en collaboration avec des chercheurs de Hospital Universitario La Fe (9)

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

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

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