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Listar por autor "Rodríguez de la Rúa Franch, Enrique"
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
Correlación y validación de criterios diagnósticos y escala de severidad en la insuficiencia limbar asistida con microscopia confocal
Caro Magdaleno, Manuel (2016-01-29)INTRODUCCIÓN La Insuficiencia limbar (IL) es una enfermedad ocular debida a una disminución crítica de las células madre ...
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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
Improved Tear Film Stability in Patients with Dry Eye After Hyaluronic Acid and Galactoxyloglucan Use
Molina-Solana, Pedro; Domínguez-Serrano, Antonio Manuel; Garrido-Hermosilla, Antonio M.; Montero Iruzubieta, Jesús; Fernández Palacín, Ana; Rodríguez de la Rúa Franch, Enrique; Caro Magdaleno, Manuel (2021)Purpose: Artificial tears only provide transient relief for dry eye. To the best of our knowledge, this is the first study ...
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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
Keratograph 5M As A Useful And Objective Tool For Evaluating The Ocular Surface In Limbal Stem Cell Deficiency.
Alfaro Juárez, Asunción; Caro Magdaleno, Manuel; Montero Iruzubieta, Jesús; Fernández Palacín, Ana; Muñoz Morales, Ana; Castilla Martino, Manuel Alberto; Rodríguez de la Rúa Franch, Enrique (2019-10-16)Purpose: In limbal stem cell deficiency, both the Ocular Surface Disease Index (OSDI) questionnaire and tear break-up ...
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Artículo
Protección fijada al microscopio quirúrgico frente a gotas y aerosoles emitidos en el transcurso de cirugías oculares durante la pandemia COVID-19
Caro Magdaleno, Manuel; Moro-del-Moral, Rafael; Garrido Hermosilla, Antonio M.; Rodríguez de la Rúa Franch, Enrique (Permanyer, 2021)La COVID-19 (enfermedad por coronavirus 2019) nos plantea nuevos retos en nuestra rutina diaria. La última cifra publicada ...
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Artículo
Protection secured to the surgical microscope against drops and aerosols generated during eye surgery in the course of the covid-19 pandemic
Caro Magdaleno, Manuel; Moro-del-Moral, Rafael; Garrido-Hermosilla, Antonio M.; Rodríguez de la Rúa Franch, Enrique (Sociedad Mexicana de Oftalmología, 2020) -
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 ...
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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 ...