Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Blanca García Sandoval"'
Autor:
Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M Millan, Blanca García Sandoval, Carmen Ayuso
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0149473 (2016)
This research is the single largest NR2E3 genotype-phenotype correlation study performed to date in autosomal dominant Retinitis Pigmentosa.The aim of this study is to analyse the frequency of the p.Gly56Arg mutation in NR2E3 for the largest cohort o
Externí odkaz:
https://doaj.org/article/6b6ba66396004b248dfbf8abb38988cf
Autor:
Irene Blanco-Dominguez, Blanca García-Sandoval, Nicolás Alejandre-Alba, Marisa Sánchez-Pulgarín, Esther Santos, Ignacio Jimenez-Alfaro
Publikováno v:
Revista Brasileira de Oftalmologia, Vol 83 (2024)
ABSTRACT This report was aimed at presenting a case of neurotrophic keratitis and concomitant SARS-CoV-2 infection in a patient who has recently undergone a corneal DALK transplant. One month after corneal transplantation with adequate corneal epithe
Externí odkaz:
https://doaj.org/article/f10eba45f56745b2b8d9f6244937b8e2
Autor:
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo, María Pilar Martin-Gutierrez, Pablo Minguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud T. Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2913 (2024)
PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogen
Externí odkaz:
https://doaj.org/article/33858ca3fd7140b0816bd0db4296ac07
Pinhole amniotic membrane for peripheral corneal defects in patients with a single eye or low vision
Autor:
José Javier San Román Llorens, Nuria Estébanez Corrales, Andrea Estébanez, Blanca García Sandoval, Ignacio Jiménez-Alfaro
Publikováno v:
International Ophthalmology. 42:2079-2083
To describe the efficacy of a new pinhole amniotic membrane placement technique in cases of peripheral epithelial defects in patients with a single eye or low vision in the contrye.This technique is based on a small central hole done with a dermatolo
Autor:
Natalia Lorenzana-Blanco, Gonzalo Velarde-Rodríguez, Sofía Corte-Alonso, Ignacio Mahillo-Fernández, Blanca García-Sandoval, Ignacio Jiménez-Alfaro, Nicolás Alejandre-Alba
Publikováno v:
Cornea.
Autor:
Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0133624 (2015)
This study aimed to identify the genetics underlying dominant forms of inherited retinal dystrophies using whole exome sequencing (WES) in six families extensively screened for known mutations or genes. Thirty-eight individuals were subjected to WES.
Externí odkaz:
https://doaj.org/article/6c3c44d15e344cbf8503781f42d9f85f
Autor:
Blanca García Sandoval, Ignacio Jiménez Alfaro, Miguel Górgolas, Manuel L. Fernández Guerrero
Publikováno v:
Sexually Transmitted Diseases. 37:340-341
Infections caused by quinolone-resistant Neisseria gonorrhoeae are increasing worldwide. Although mostly mild and uncomplicated, serious infections causing severe morbidity are occasionally observed. We report 2 cases of sexually transmitted keratoco
Autor:
María José Trujillo, María Martinez-Gimeno, Ascensión Giménez, Isabel Lorda, José Bueno, Blanca García-Sandoval, Carmen Ramos, Miguel Carballo, Carmen Ayuso
Publikováno v:
Human Mutation. 17:80
Autor:
Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso
Publikováno v:
PLoS ONE, Vol 13, Iss 6, p e0199048 (2018)
INTRODUCTION:Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment). One of the most frequent variants identified in this gene and among these patients is the p.(Cys759Phe) change.
Externí odkaz:
https://doaj.org/article/a9a6c6670c604daeaafc89447b5fa6dc