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Listar por autor "Bravo-Gil, Nereida"
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Artículo
Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
González del Pozo, María; Méndez-Vidal, Cristina; Bravo-Gil, Nereida; Vela-Boza, Alicia; Dopazo, Joaquín; Borrego, Salud; Antiñolo Gil, Guillermo (Public Library of Science, 2014)This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of ...
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Artículo
Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies
Llavero-Valero, Pilar; Morillo-Sánchez, María José; Bravo-Gil, Nereida; Jiménez, Manuel Ramos; Ponte-Zuñiga, Beatriz; López-Domínguez, Mireia; Antiñolo Gil, Guillermo; Rodríguez de la Rúa Franch, Enrique (Bentham Open, 2021)Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis ...
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Artículo
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
Méndez-Vidal, Cristina; Bravo-Gil, Nereida; González del Pozo, María; Vela-Boza, Alicia; Dopazo, Joaquín; Borrego, Salud; Antiñolo Gil, Guillermo (BioMed Central Ltd., 2014-12-14)Background: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive ...