Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences

Por Medina-Trillo, Cristina, Aroca-Aguilar, José-Daniel, Méndez-Hernández, Carmen-Dora, Morales, Laura, García-Antón, Maite, García-Feijoo, Julián, Escribano, Julio
Publicado no Eur J Hum Genet (2016)

Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

Por Medina-Trillo, Cristina, Sánchez-Sánchez, Francisco, Aroca-Aguilar, José-Daniel, Ferre-Fernández, Jesús-José, Morales, Laura, Méndez-Hernández, Carmen-Dora, Blanco-Kelly, Fiona, Ayuso, Carmen, García-Feijoo, Julián, Escribano, Julio
Publicado no PLoS One (2015)

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

Por Ferre-Fernández, Jesús-José, Aroca-Aguilar, José-Daniel, Medina-Trillo, Cristina, Bonet-Fernández, Juan-Manuel, Méndez-Hernández, Carmen-Dora, Morales-Fernández, Laura, Corton, Marta, Cabañero-Valera, María-José, Gut, Marta, Tonda, Raul, Ayuso, Carmen, Coca-Prados, Miguel, García-Feijoo, Julián, Escribano, Julio
Publicado no Sci Rep (2017)