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Listar por autor "Bravo Gil, Nereida Inés"
Mostrando ítems 1-5 de 5
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Artículo
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies
González del Pozo, María; Fernández Suárez, Elena; Bravo Gil, Nereida Inés; Méndez Vidal, Cristina; Martín Sánchez, Marta; Rodríguez de la Rúa Franch, Enrique; Ramos Jiménez, Manuel; Morillo Sánchez, María José; Borrego, Salud; Antiñolo Gil, Guillermo (Nature Portfolio, 2022)To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis ...
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Artículo
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family
González del Pozo, María; Méndez Vidal, Cristina; Santoyo-López, Javier; Vela-Boza, Alicia; Bravo Gil, Nereida Inés; Rueda, Antonio; Antiñolo Gil, Guillermo (Wiley Open Access, 2014)Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity ...
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Tesis Doctoral
Implementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retina
Bravo Gil, Nereida Inés (2016-12-05)Las distrofias hereditarias de retina (DHR) son un conjunto de enfermedades degenerativas y, generalmente, progresivas que ...
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Artículo
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
Bravo Gil, Nereida Inés; Méndez Vidal, Cristina; Romero Pérez, Laura; González del Pozo, María; Rodríguez de la Rúa Franch, Enrique; Dopazo, Joaquín; Antiñolo Gil, Guillermo (Springer Nature, 2016)Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal ...
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Artículo
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
Bravo Gil, Nereida Inés; González del Pozo, María; Martín Sánchez, Marta; Méndez Vidal, Cristina; Rodríguez de la Rúa Franch, Enrique; Borrego López, Salud; Antiñolo Gil, Guillermo (Nature Publishing Group, 2017)Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by ...