A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family

Autor Moreno-Pelayo, M. A., del Castillo, I., Villamar, M., Romero, L., Hernandez-Calvin, F. J., Herraiz, C., Barbera, R., Navas, C., Moreno, F.
Vydáno 2001

Molecular and clinical characterisation of three Spanish families with maternally inherited non‐syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA...

Autor Rodríguez‐Ballesteros, M, Olarte, M, Aguirre, L A, Galán, F, Galán, R, Vallejo, L A, Navas, C, Villamar, M, Moreno‐Pelayo, M A, Moreno, F, del Castillo, I
Vydáno 2006

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

Autor Morín, Matias, Borreguero, Lucía, Booth, Kevin T, Lachgar, María, Huygen, Patrick, Villamar, Manuela, Mayo, Fernando, Barrio, Luis Carlos, Santos Serrão de Castro, Luciana, Morales, Carmelo, del Castillo, Ignacio, Arellano, Beatriz, Tellería, Dolores, Smith, Richard J. H., Azaiez, Hela, Moreno Pelayo, M. A.
Vydáno v Sci Rep (2020)