Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ana Bustamante-Aragonés"'
Autor:
Sara Perlado, Ana Bustamante-Aragonés, Marta Donas, Isabel Lorda-Sánchez, Javier Plaza, Marta Rodríguez de Alba
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153258 (2016)
To date, non-invasive prenatal diagnosis (NIPD) of monogenic disorders has been limited to cases with a paternal origin. This work shows a validation study of the Droplet Digital PCR (ddPCR) technology for analysis of both paternally and maternally i
Externí odkaz:
https://doaj.org/article/fb98b58c406f46e8bf878aeb136cb9c1
Autor:
Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin-Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)
Abstract Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridizat
Externí odkaz:
https://doaj.org/article/60825b0a88124fa993f8c183177a345c
Autor:
Maria Jose Trujillo-Tiebas, Laura Horcajada, Marta Ruiz Ramos, Marta Rodriguez de Alba, Javier Plaza, Isabel Lorda-Sanchez, Ana Bustamante-Aragones, Sara Perlado-Marina
Publikováno v:
Diagnostics, Vol 3, Iss 2, Pp 283-290 (2013)
Since the discovery of the presence of fetal DNA in maternal blood, non-invasive fetal sex determination has been the test most widely translated into clinical practice. To date there is no agreement between the different laboratories performing such
Externí odkaz:
https://doaj.org/article/25abda6b363444568244003a697f155c