Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Francisco Ruiz Espejo"'
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:
María Sabater-Molina, Esperanza García-Molina, Isabel Tovar, Francisco Ruiz-Espejo, Juan Ramón Gimeno, Mariano Valdés
Publikováno v:
Cardiogenetics, Vol 3, Iss 1, Pp e5-e5 (2013)
There is a need to evidence the cost of genetic testing and know their profitability in order to establish criteria for priorizing access to genetic testing for these diseases. We determinated the cost per positive genotyping in 234 index cases with
Externí odkaz:
https://doaj.org/article/d2764b420be84a8dbb0a73c2549e01e1
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:
Natalia Sancho-Rodríguez, Isabel Tovar-Zapata, Ana Martínez-Ruiz, José A. Noguera-Velasco, Juan Antonio Vílchez, Francisco Ruiz-Espejo, Enrique Martínez-Sánchez
Publikováno v:
International Journal of Clinical Medicine. :984-992
Background: The relationship between serum lipid profile levels and cancer risk remained uncertain. Recently, it had been reported a significant inverse association between high-density lipoprotein cholesterol (HDL) and the risk of incident cancer th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c978c52dec84eafde280f212acaad9f9
https://doi.org/10.4236/ijcm.2015.612129
https://doi.org/10.4236/ijcm.2015.612129
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:
I. Gomez-Milanes, Francisco Ruiz-Espejo, Juan José Sánchez-Muñoz, David López-Cuenca, Martin Ortiz-Genga, Lorenzo Monserrat, María José Oliva-Sandoval, Juan R. Gimeno, José María López-Ayala
Publikováno v:
Clinical Genetics. 88:172-176
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an important cause of malignant arrhythmia and sudden death particularly in young people. Although it is considered a desmosomal disease, mutations in non-desmosomal genes have also been ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91468a0cfe996a7bcc4e93355d60e2e0
https://doi.org/10.1111/cge.12458
https://doi.org/10.1111/cge.12458
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