Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Begoña Mañé"'
Autor:
Begoña Mañé, Gemma Llort, Miguel Carballo, Emma Borràs, Angels Arcusa, Carmen Yagüe, Imma Hernan, María José Gamundi, M. de Sousa Dias
Publikováno v:
Clinical and Translational Oncology. 17:576-580
To analyze BRCA1 and BRCA2 genes using a cost-effective and rapid approach based on next generation sequencing (NGS) technology.A population of Spanish cancer patients with a personal or familial history of breast and/or ovarian cancer was analyzed f
Autor:
Begoña Mañé, Miguel Carballo, Emma Borràs, Barbara Delas, Beatriz Pascual, M. de Sousa Dias, Imma Hernan, María José Gamundi
Publikováno v:
Clinical Genetics. 84:441-452
We explored an approach to detect disease-causing sequence variants in 448 candidate genes from five index cases of autosomal dominant retinitis pigmentosa (adRP) by sequence DNA capture and next-generation DNA sequencing (NGS). Detection of sequence
Autor:
Miguel Miranda de Sousa Dias, Emma Borràs, Miguel Carballo, Imma Hernan, Begoña Mañé, José A. G. Agúndez, Gemma Llort, María José Gamundi, Miguel Blanca
Publikováno v:
The Journal of Molecular Diagnostics. 14:286-293
Advances in sequencing technologies, such as next-generation sequencing (NGS), represent an opportunity to perform genetic testing in a clinical scenario. In this study, we developed and tested a method for the detection of mutations in the large BRC
Autor:
Miguel Carballo, Miguel Miranda de Sousa Dias, Begoña Mañé, Miguel Blanca, Emma Borràs, Angels Arcusa, María José Gamundi, Imma Hernan, Emma Dotor, José A. G. Agúndez
Publikováno v:
Frontiers in Genetics, Vol 3 (2013)
Frontiers in Genetics
Frontiers in Genetics
Dihydropyrimidine dehydrogenase (DPD) deficiency is a pharmacogenetic syndrome associated with life-threatening toxicity following exposure to the fluoropyrimidine drugs 5-fluorouracil (5-FU) and capecitabine (CAP), widely used for the treatment of c
Autor:
Miguel Carballo, Angels Arcusa, Miguel Miranda de Sousa Dias, Miguel Blanca, Emma Borràs, Ismael Jurado, Begoña Mañé, José A. G. Agúndez, Imma Hernan, Isabel Martí, María José Gamundi
Publikováno v:
BMC Cancer
BMC Cancer, Vol 11, Iss 1, p 406 (2011)
BMC Cancer, Vol 11, Iss 1, p 406 (2011)
Background Epidermal growth factor receptor (EGFR) and its downstream factors KRAS and BRAF are mutated in several types of cancer, affecting the clinical response to EGFR inhibitors. Mutations in the EGFR kinase domain predict sensitivity to the tyr