ELENA
BERISTAIN MENDIZABAL
Publications (24) Publications de ELENA BERISTAIN MENDIZABAL
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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BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin
Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69
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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
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Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study
Clinical Genetics
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Risk of cognitive impairment in female Premutation carriers of fragile X premutation: Analysis by means of robust segmented linear regression models
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 150, Núm. 2, pp. 262-270
2008
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Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome
Menopause, Vol. 15, Núm. 5, pp. 945-949
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The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
Clinical Cancer Research, Vol. 14, Núm. 9, pp. 2861-2869
2007
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Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models
RNA, Vol. 13, Núm. 5, pp. 756-762
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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