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Morales Fernández, Laura ; Martínez de la Casa, Jose Maria ; García Bella, Javier ; Méndez Hernández, Carmen D. ; Sáenz Francés, Federico ; García Antón, Maite ; Escribano, Julio ; García Feijoo, Julián | Wolters Kluwer Health | 2015-10Background: Primary congenital glaucoma (PCG) is a rare disease. In around a third of Spanish patients, the disease is attributed to mutations in the CYP1B1 gene inherited in an autosomal recessive manner. Such mutations are the main known genet[...]texto impreso
Bonet Fernández, Juan Manuel ; Aroca Aguilar, José Daniel ; Corton Pérez, Marta ; Ramírez Sebastián, Ana Isabel ; Alexandre Moreno, Susana ; García Antón, María Teresa ; Salazar Corral, Juan José ; Ferre Fernández, Jesús José ; Atienzar Aroca, Raquel ; Villaverde Montero, Cristina ; Iancu, Ionut ; Tamayo Durán, Alejandra ; Méndez Hernández, Carmen D. ; Morales Fernández, Laura ; Rojas López, Blanca ; Ayuso García, Carmen ; Coca Prados, Miguel ; Martínez de la Casa, Jose Maria ; García Feijoo, Julián ; Escribano, Julio | Springer-Verlag | 2020-04-09Abnormal development of the ocular anterior segment may lead to a spectrum of clinical phenotypes ranging from primary congenital glaucoma (PCG) to variable anterior segment dysgenesis (ASD). The main objective of this study was to identify the [...]texto impreso
García Antón, María Teresa ; Salazar Corral, Juan José ; Hoz Montañana, Rosa de ; Rojas López, Blanca ; Ramírez Sebastián, Ana Isabel ; Triviño Casado, Alberto ; Aroca Aguilar, José Daniel ; García Feijoo, Julián ; Escribano, Julio ; Ramirez Sebastian, Jose Manuel | Public Library Science | 2017-04-27Mutations in the CYP1B1 gene are currently the main known genetic cause of primary congenital glaucoma (PCG), a leading cause of blindness in children. Here, we analyze for the first time the CYP1B1 genotype activity and the microscopic and clin[...]texto impreso
Morales Cámara, Samuel ; Alexandre Moreno, Susana ; Bonet Fernández, Juan Manuel ; Atienzar Aroca, Raquel ; Aroca Aguilar, José Daniel ; Ferre Fernández, Jesús José ; Méndez Hernández, Carmen D. ; Morales Fernández, Laura ; Fernández Sánchez, Laura ; Cuenca Navarro, Nicolás ; Coca Prados, Miguel ; Martínez de la Casa, Jose Maria ; García Feijoo, Julián ; Escribano, Julio | 2020-03-29Primary congenital glaucoma (PCG) is a heterogeneous, inherited, and severe optical neuropathy caused by apoptotic degeneration of the retinal ganglion cell layer. Whole-exome sequencing analysis of one PCG family identified two affected sibling[...]
