Publikationen, an denen er mitarbeitet María Isabel Castillejo Castillo (16)

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

2017

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

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

  2. Streptococcus gallolyticus infection in colorectal cancer and association with biological and clinical factors

    PLoS ONE, Vol. 12, Núm. 3

2015

  1. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer

    Journal of Medical Genetics, Vol. 52, Núm. 7, pp. 498-502

2014

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

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

2013

  1. Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers

    PLoS ONE, Vol. 8, Núm. 11

2012

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

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

  2. TGFBR1 intralocus epistatic interaction as a risk factor for colorectal cancer

    PLoS ONE, Vol. 7, Núm. 1

2011

  1. Clinically important molecular features of Peruvian colorectal tumours: High prevalence of DNA mismatch repair deficiency and low incidence of KRAS mutations

    Pathology, Vol. 43, Núm. 3, pp. 228-233

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

    BMC Medical Genetics, Vol. 12

2010

  1. Biallelic MYH germline mutations as cause of Muir-Torre syndrome

    Familial Cancer, Vol. 9, Núm. 2, pp. 151-154

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

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

  3. Germline allele-specific expression of TGFBR1 as a susceptibility factor for sporadic colorectal cancer

    EJC SUPPLEMENTS

2009

  1. The Int7G24A variant of transforming growth factor-beta receptor type I is a risk factor for colorectal cancer in the male Spanish population: A case-control study

    BMC Cancer, Vol. 9

  2. The TGFBR1*6A allele is not associated with susceptibility to colorectal cancer in a Spanish population: A case-control study

    BMC Cancer, Vol. 9