ELENA
BERISTAIN MENDIZABAL
Hospital Universitario Araba
Vitoria, EspañaPublications in collaboration with researchers from Hospital Universitario Araba (14)
2023
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m6A levels and expression of its modification genes show significant differences in breast cancer molecular subtypes
Genes and Diseases, Vol. 10, Núm. 5, pp. 1751-1754
2022
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In silico identification and in vitro expression analysis of breast cancer-related m6A-SNPs
Epigenetics, Vol. 17, Núm. 13, pp. 2144-2156
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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients
Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1
2019
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Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): A case report
Hereditary Cancer in Clinical Practice, Vol. 17, Núm. 1
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Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)
Frontiers in Genetics, Vol. 10, Núm. OCT
2016
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Luminal B breast cancer subtype displays a dicotomic epigenetic pattern
SpringerPlus, Vol. 5, Núm. 1
2013
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Brachydactyly E: Isolated or as a feature of a syndrome
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
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Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas
Journal of Clinical Endocrinology and Metabolism, Vol. 98, Núm. 5
2010
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Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2
Journal of Community Genetics, Vol. 1, Núm. 2, pp. 91-99
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LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not
Familial Cancer
2009
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A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations
Familial Cancer, Vol. 8, Núm. 4, pp. 533-539
2007
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CHEK2 1100delC is present in familial breast cancer cases of the Basque Country [2]
Breast Cancer Research and Treatment
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Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: Implications for genetic counselling
Breast Cancer Research and Treatment, Vol. 106, Núm. 2, pp. 255-262
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High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country
Cancer Letters, Vol. 255, Núm. 2, pp. 295-299