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Listar por autor "González del Pozo, María"
Mostrando ítems 1-10 de 10
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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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Tesis Doctoral
Aproximación genómica al diagnóstico genético de las distrofias hereditarias de retina y búsqueda de nuevos genes relacionados
González del Pozo, María (2014)Diagnosticar genéticamente a las familias afectas de alguna de las distrofias hereditarias de retina (DHR) es, desde el ...
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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
Desarrollo de una estrategia genómica y bioinformática para la optimización del diagnóstico genético de las distrofias hereditarias de retina y su traslación a la práctica clínica
Fernández Suárez, María Elena (2024-03-14)Las distrofias hereditarias de retina (DHR) constituyen un grupo de enfermedades raras de base genética que cursan con ...
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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
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
Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing
Borrego López, Salud; Santoyo, Javier; Barragán Mallofret, María Isabel; Pieras Martín, Juan Ignacio; Dopazo, Joaquín; Antiñolo Gil, Guillermo; Matamala Zamarro, Nerea; Naranjo Río-Miranda, Belén; González del Pozo, María (2011) -
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 ...
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Artículo
Oral supplementation of propionyl-l-carnitine reduces body weight and hyperinsulinaemia in obese Zucker rats
Mingorance Gutiérrez, María del Carmen; González del Pozo, María; Herrera González, María Dolores; Álvarez de Sotomayor Paz, María (Cambridge University Press, 2009)Propionyl-l-carnitine (PLC) is an SCFA esterified to carnitine that plays an important role in fatty acid oxidation and ...
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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 ...