Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Ana Isabel Sánchez Bermúdez"'
Autor:
M.ª Desamparados Sarabia Meseguer, José Antonio Noguera Velasco, Ana Isabel Sánchez Bermúdez, Verónica Guardiola Castillo, Francisco Ruiz Espejo
Publikováno v:
Revista de Medicina de Laboratorio.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e3df40c01ba2e56f6ef0b8639bf6267
https://doi.org/10.20960/revmedlab.00024
https://doi.org/10.20960/revmedlab.00024
Autor:
Verónica Castillo-Guardiola, José A. Noguera-Velasco, Miguel Marín-Vera, M Desamparados Sarabia-Meseguer, Francisco Ruiz-Espejo, Ana Isabel Sánchez-Bermúdez, José Luis Alonso-Romero
Publikováno v:
Cancer Genetics. :1-4
Li-Fraumeni syndrome is an autosomal-dominant disorder caused by germline mutations in the tumour suppressor gene TP53. Here we report the case of a family whose index case was a woman diagnosed with bilateral breast cancer at the age of 18 and who h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::079e1b0886d132d598006fe3235dfe13
https://doi.org/10.1016/j.cancergen.2018.06.002
https://doi.org/10.1016/j.cancergen.2018.06.002
Autor:
José Luis Alonso-Romero, Verónica Guardiola-Castillo, Ángeles García-Aliaga, José A. Noguera-Velasco, Ma Desamparados Sarabia-Meseguer, Pilar Sánchez Henarejos, Ana Isabel Sánchez-Bermúdez, Francisco Ayala-de la Peña, José Antonio Macías-Cerrolaza, Miguel Marín-Vera, Francisco Ruiz-Espejo
Publikováno v:
European Journal of Medical Genetics. 61:355-361
RAD51C and RAD51D have been defined as susceptibility genes for hereditary breast and ovarian cancer syndrome in several studies. In the present study, a mutation analysis of these genes was performed on non BRCA1/2 families. RAD51C and RAD51D genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe77b8c68d452093b908a44843933519
https://doi.org/10.1016/j.ejmg.2018.01.015
https://doi.org/10.1016/j.ejmg.2018.01.015
Autor:
Á. García-Aliaga, José A. Noguera-Velasco, F. Ayala De La Peña, Á. Aliaga-Baño, P. Pascual-Gilabert, F. Ruiz-Espejo, M.D. Sarabia-Meseguer, J.A. Macías-Cerrolaza, Ana Isabel Sánchez-Bermúdez, M.Á. Moreno-Locubiche, V. Castillo-Guardiola, L. Rosado-Jiménez, M. Zafra-Poves
Publikováno v:
Clinica Chimica Acta. 493:S576-S577
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ba64e3bfaad9c2bbbd13a12607907b1
https://doi.org/10.1016/j.cca.2019.03.1210
https://doi.org/10.1016/j.cca.2019.03.1210
Autor:
Ana Isabel Sánchez Bermúdez, Xavier Gabaldó Barrios, Mª Rosario García Hernández, Enrique Martínez Barba, Francisco Ruiz Espejo, Mª de los Desamparados Sarabia Meseguer, José Antonio Noguera Velasco, Francisco Ayala de la Peña, Miguel Marín Vera, José Antonio Macías Cerrolaza, José Luis Alonso Romero, Ángeles Aliaga Baño, Marta Zafra Poves, Isabel Tovar Zapata, Pilar Sánchez Henarejos, Pedro Luis Martínez Hernández, Verónica Castillo Guardiola, Encarna Cuevas Tortosa
Publikováno v:
Familial cancer. 16(4)
This is the first study performed in Murcia (south-eastern Spain) in which 592 families with hereditary breast and ovarian cancer were identified thanks to Genetic Counselling Units from this area over 6 years. Diagnostic performance was 18.1% and 19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52581364579525bc8bf339bae188d70f
https://pubmed.ncbi.nlm.nih.gov/28477318
https://pubmed.ncbi.nlm.nih.gov/28477318
Autor:
Pilar Sánchez Henarejos, Xavier Gabaldó Barrios, Miguel Marín Vera, José Luis Alonso Romero, Francisco Ruiz Espejo, Ana Isabel Sánchez Bermúdez, Gema Marín Zafra, María Desamparados Sarabia Meseguer
Publikováno v:
Familial Cancer. 13:431-435
Mutations in breast cancer susceptibility (BRCA) genes lead to defects in DNA repair processes resulting in elevated genome instability and predisposing to breast and ovarian cancer. We report a novel mutation (c.1918C>T) in the exon 11 of the BRCA1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57fd199170ae24678d0df6dcb532db23
https://doi.org/10.1007/s10689-014-9708-5
https://doi.org/10.1007/s10689-014-9708-5
Publikováno v:
Medicina Clínica (English Edition). 150:e19-e20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd41778d463a58294bd12986575a836f
https://doi.org/10.1016/j.medcle.2018.02.010
https://doi.org/10.1016/j.medcle.2018.02.010
Publikováno v:
Medicina Clínica. 150:e19-e20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fd49d4e717dd2c76ff5b6232a33fc91
https://doi.org/10.1016/j.medcli.2017.09.022
https://doi.org/10.1016/j.medcli.2017.09.022