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Listar por autor "Méndez-Vidal, Cristina"
Mostrando ítems 1-4 de 4
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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
Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients
Luzón-Toro, Berta; Fernández, Raquel María; Torroglosa, Ana; Agustín, Juan Carlos de; Méndez-Vidal, Cristina; Segura Ayestarán, Dolores Isabel; Antiñolo Gil, Guillermo; Borrego, Salud (Public Library of Science, 2013-01-23)Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along ...
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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 ...
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Artículo
Unusual clinical phenotype of Stargardt disease
Molina-Solana, Pedro; Morillo-Sánchez, María José; Méndez-Vidal, Cristina; Ramos-Jiménez, Manuel; Domínguez-Serrano, Borja; Antiñolo Gil, Guillermo; Rodríguez de la Rúa Franch, Enrique (2021)Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been ...