Miguel Urioste


Ontology type: schema:Person     


Person Info

NAME

Miguel

SURNAME

Urioste

Publications in SciGraph latest 50 shown

  • 2018-12 Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis in MOLECULAR CANCER
  • 2018-09 Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-02-06 Comment on ‘Distinct clinical outcomes of two CIMP-positive colorectal cancer subtypes based on a revised CIMP classification system’ in BRITISH JOURNAL OF CANCER
  • 2017-11 The wide spectrum of POT1 gene variants correlates with multiple cancer types in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-09-26 Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes in BRITISH JOURNAL OF CANCER
  • 2017-02 Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene in BREAST CANCER RESEARCH AND TREATMENT
  • 2016-08 Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis in SCIENTIFIC REPORTS
  • 2016-07 Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis in SCIENTIFIC REPORTS
  • 2016-05 Comment on ‘Wild-type APC prediction of poor prognosis in microsatellite-stable proximal colorectal cancer differs according to the age of onset’ in BRITISH JOURNAL OF CANCER
  • 2016-04 POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance in GENETICS IN MEDICINE
  • 2015-12 A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families in NATURE COMMUNICATIONS
  • 2015-07 DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers in BREAST CANCER RESEARCH AND TREATMENT
  • 2015-06 Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X in JOURNAL OF GASTROENTEROLOGY
  • 2015-01 Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients in BREAST CANCER RESEARCH AND TREATMENT
  • 2014-03 A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-04 DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas in BRITISH JOURNAL OF CANCER
  • 2012-08 Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres in BREAST CANCER RESEARCH AND TREATMENT
  • 2011-11 Early-Onset Colorectal Cancer is an Easy and Effective Tool to Identify Retrospectively Lynch Syndrome in ANNALS OF SURGICAL ONCOLOGY
  • 2010-01 Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers in BREAST CANCER RESEARCH AND TREATMENT
  • 2009-02 Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families in BREAST CANCER RESEARCH AND TREATMENT
  • 2009-01 Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility in BREAST CANCER RESEARCH AND TREATMENT
  • 2007-12 Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX families in MODERN PATHOLOGY
  • 2005-05 About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-02 Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1) in HUMAN GENETICS
  • 2001-10 Chromosomal changes pattern and gene amplification in T cell non-Hodgkin's lymphomas in LEUKEMIA
  • 2000-07 Allelic losses and genetic instabilities of PTEN and p73 in non-Hodgkin lymphomas in LEUKEMIA
  • 1999-05 Analysis of the INK4a/ARF locus in non-Hodgkin’s lymphomas using two new internal microsatellite markers in LEUKEMIA
  • 1996-02 Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: A defect expression of a developmental control gene? in HUMAN GENETICS
  • 1994-04 Chromosome 4p16 and osteochondroplasias in NATURE GENETICS
  • 1988-10 An unusual variant of chromosome 16 in HUMAN GENETICS
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