Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Blanca García-Sandoval"'
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:
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
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
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:
Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Eduardo Martin-Salazar, Isabel Lorda-Sanchez, Saoud Tahsin Swafiri, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Maria Jose Trujillo-Tiebas, Ester Carreño, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Pablo Minguez, Marta Corton, Diana Valverde, Carmen Ayuso
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-7 (2022)
Abstract Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which oligogenic interactions have been also reported. Our main goal is to elucidate the role of mutation
Externí odkaz:
https://doaj.org/article/2381f94658ef4843b1e48b9411294e18
Autor:
Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landsca
Externí odkaz:
https://doaj.org/article/b5897e1349824a999f7e2ef34ee79648
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:
Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/cd761e7eee4c4333b07288b6fe26ab5c