DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

by Francisco J. del Castillo, Francisco J. del Castillo, Ignacio del Castillo, Ignacio del Castillo
Published 2017-12-01

Frecuencia de mutaciones en el gen de la conexina 26 en pacientes cubanos con sordera neurosensorial severo-profunda

by Ibis Menéndez, Blanca Carrillo, Ignacio del Castillo, Manuela Villamar, Lourdes Romero, Felipe Moreno
Published 2003-04-01

A Novel Truncating Mutation in <i>HOMER2</i> Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

by María Lachgar, Matías Morín, Manuela Villamar, Ignacio del Castillo, Miguel Ángel Moreno-Pelayo
Published 2021-03-01

Expresión fenotípica de una sordera familiar con deleción del gen POU3F4

by Ibis Menéndez, Manuela Villamar, Blanca Carrillo, Ignacio del Castillo, Lourdes Romero, Maribel Ponce de León, Felipe Moreno
Published 1999-12-01

Estudio genético de hipoacusia en familias de Argentina

by Raúl Reynoso, Silvia Hendl, María Berteik, Curet Carlos, Luis Nicemboin, José Moreno Barral, Montserrat Rodriguez Ballesteros, Ignacio Del Castillo, Felipe Moreno
Published 2004-03-01

Correction: A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

by Marta Gandía, Francisco J. del Castillo, Francisco J. Rodríguez-Álvarez, Gema Garrido, Manuela Villamar, Manuela Calderón, Miguel A. Moreno-Pelayo, Felipe Moreno, Ignacio del Castillo
Published 2014-01-01

Mutaciones del gen de la conexina 26 (GJB2) en familias cubanas con sorderas no sindrómicas autosómicas recesivas

by Ibis&lt;a href="#cargo"&gt; &lt;/a&gt; Menéndez, Ignacio del Castillo, Blanca Carrillo, Manuela Villamar, Maribel Ponce de León, Ana Uriarte, Felipe Moreno
Published 2001-09-01

Correction: A Novel Splice-Site Mutation in the Gene Causing Mild Postlingual Hearing Impairment.

by Marta Gandía, Francisco J. del Castillo, Francisco J. Rodríguez-Álvarez, Gema Garrido, Manuela Villamar, Manuela Calderón, Miguel A. Moreno-Pelayo, Felipe Moreno, Ignacio del Castillo
Published 2014-01-01

A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.

by Marta Gandía, Francisco J Del Castillo, Francisco J Rodríguez-Álvarez, Gema Garrido, Manuela Villamar, Manuela Calderón, Miguel A Moreno-Pelayo, Felipe Moreno, Ignacio del Castillo
Published 2013-01-01

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

by María Domínguez-Ruiz, Alberto García-Martínez, Marc Corral-Juan, Ángel I. Pérez-Álvarez, Ana M. Plasencia, Manuela Villamar, Miguel A. Moreno-Pelayo, Antoni Matilla-Dueñas, Manuel Menéndez-González, Ignacio del Castillo
Published 2019-08-01