Zobrazeno 1 - 4
of 4
pro vyhledávání: '"José Antonio Macías Cerrolaza"'
Autor:
Verónica Castillo-Guardiola, Laura Rosado-Jiménez, María Desamparados Sarabia-Meseguer, Miguel Marín-Vera, José Antonio Macías-Cerrolaza, Rosario García-Hernández, Marta Zafra-Poves, Pilar Sánchez-Henarejos, María Ángeles Moreno-Locubiche, Encarnación Cuevas-Tortosa, María Arnaldos-Carrillo, Francisco Ayala de la Peña, José Luis Alonso-Romero, José Antonio Noguera-Velasco, Francisco Ruiz-Espejo
Publikováno v:
European journal of medical genetics. 65(4)
BRCA1 and BRCA2 are the two main genes causing hereditary breast and ovarian cancer (HBOC). However, thanks to the development of Next Generation Sequencing (NGS), other genes linked to this syndrome (CHEK2, BRIP1, ATM and PALB2 among others) can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be3e6b354c07949a73a5973ed157e0d
https://pubmed.ncbi.nlm.nih.gov/35245693
https://pubmed.ncbi.nlm.nih.gov/35245693
Autor:
Encarnación Cuevas Tortosa, Francisco Ruiz Espejo, Laura Rosado Jiménez, José Antonio Noguera Velasco, Verónica Castillo Guardiola, M.ª Desamparados Sarabia Meseguer, Miguel Marín Vera, José Antonio Macías Cerrolaza
Publikováno v:
Revista de Medicina de Laboratorio.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e78a92b238b2703385b784fe40207e3
https://doi.org/10.20960/revmedlab.00039
https://doi.org/10.20960/revmedlab.00039
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:
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