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Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.
Gutiérrez-Enríquez S, de la Hoya M, Martínez-Bouzas C, Sanchez de Abajo A, Ramón y Cajal T, Llort G, Blanco I, Beristain E, Díaz-Rubio E, Alonso C, Tejada MI, Caldés T, Diez O. Gutiérrez-Enríquez S, et al. Breast Cancer Res Treat. 2007 May;103(1):103-7. doi: 10.1007/s10549-006-9376-8. Epub 2006 Oct 25. Breast Cancer Res Treat. 2007. PMID: 17063271
Gene symbol: MECP2. Disease: Rett syndrome (atypical).
Penagarikano O, Martinez-Bouzas C, Mínguez M, Sanz-Parra A, García-Alegría E, Beristain E, Tejada MI. Penagarikano O, et al. Hum Genet. 2005 Dec;118(3-4):547. Hum Genet. 2005. PMID: 16521306 No abstract available.
CHEK2 1100delC is present in familial breast cancer cases of the Basque Country.
Martínez-Bouzas C, Beristain E, Guerra I, Gorostiaga J, Mendizabal JL, De-Pablo JL, García-Alegría E, Sanz-Parra A, Tejada MI. Martínez-Bouzas C, et al. Breast Cancer Res Treat. 2007 May;103(1):111-3. doi: 10.1007/s10549-006-9351-4. Epub 2006 Oct 25. Breast Cancer Res Treat. 2007. PMID: 17063278 No abstract available.
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.
Beristain E, Martínez-Bouzas C, Guerra I, Viguera N, Moreno J, Ibañez E, Díez J, Rodríguez F, Mallabiabarrena G, Luján S, Gorostiaga J, De Pablo JL, Mendizabal JL, Tejada MI. Beristain E, et al. Breast Cancer Res Treat. 2007 Dec;106(2):255-62. doi: 10.1007/s10549-006-9489-0. Epub 2007 Jan 30. Breast Cancer Res Treat. 2007. PMID: 17262179
Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models.
Mínguez M, Ibáñez B, Ribate MP, Ramos F, García-Alegría E, Fernández-Rivas A, Ruiz-Parra E, Poch M, Alonso A, Martinez-Bouzas C, Beristain E, Tejada MI. Mínguez M, et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):262-70. doi: 10.1002/ajmg.b.30803. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18563710
34 results