Clara María Ruiz Ponte-rekin lankidetzan egindako argitalpenak (28)

2024

  1. Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium

    Gastroenterologia y Hepatologia, Vol. 47, Núm. 3, pp. 293-318

2023

  1. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

  2. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567

2021

  1. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

    Journal of Medical Genetics, Vol. 57, Núm. 10, pp. 677-682

2018

  1. Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

    Journal of Genetics and Genomics

2017

  1. POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

    Oncotarget, Vol. 8, Núm. 16, pp. 26732-26743

2016

  1. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)

    Carcinogenesis, Vol. 37, Núm. 8, pp. 751-758

  2. The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

    European Journal of Human Genetics, Vol. 24, Núm. 10, pp. 1501-1505

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

  2. Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

    Genetics in Medicine, Vol. 17, Núm. 2, pp. 131-142

2014

  1. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

    Human Genetics, Vol. 133, Núm. 5, pp. 525-534

  2. Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: Results from a multi-centric study

    PLoS ONE, Vol. 9, Núm. 1

  3. Correction: Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: Results from a multi-centric study (PLoS ONE)

    PLoS ONE

  4. Erratum: Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer (Genetics in Medicine (2014) DOI: 10.1038/gim.2014.89)

    Genetics in Medicine

  5. New genes emerging for colorectal cancer predisposition

    World Journal of Gastroenterology, Vol. 20, Núm. 8, pp. 1961-1971

  6. The MLH1c.1852-1853delinsGC (p.K618A) variant in colorectal cancer: Genetic association study in 18,723 individuals

    PLoS ONE, Vol. 9, Núm. 4

2013

  1. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

    BMC Genomics, Vol. 14, Núm. 1

  2. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations

    Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318

  3. Corrigendum

    Carcinogenesis