Genetics of Hearing Impairment

por Kremer, Hannie, del Castillo, Ignacio
Publicado 2022

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

por del Castillo, Francisco J., del Castillo, Ignacio
Publicado 2017

Genetics of Deafness

por Sartorato, Edi Lúcia, Friderici, Karen, Del Castillo, Ignacio
Publicado 2012

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

por Lachgar, María, Morín, Matías, Villamar, Manuela, del Castillo, Ignacio, Moreno-Pelayo, Miguel Ángel
Publicado 2021

Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene

por Santarelli, Rosamaria, Scimemi, Pietro, La Morgia, Chiara, Cama, Elona, del Castillo, Ignacio, Carelli, Valerio
Publicado 2021

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception

por Santarelli, Rosamaria, Scimemi, Pietro, Costantini, Marco, Domínguez-Ruiz, María, Rodríguez-Ballesteros, Montserrat, del Castillo, Ignacio
Publicado 2021

Meridianins Rescue Cognitive Deficits, Spine Density and Neuroinflammation in the 5xFAD Model of Alzheimer’s Disease

por Rodríguez-Urgellés, Ened, Sancho-Balsells, Anna, Chen, Wanqi, López-Molina, Laura, Ballasch, Ivan, del Castillo, Ignacio, Avila, Conxita, Alberch, Jordi, Giralt, Albert
Publicado 2022

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

por Gandía, Marta, del Castillo, Francisco J., Rodríguez-Álvarez, Francisco J., Garrido, Gema, Villamar, Manuela, Calderón, Manuela, Moreno-Pelayo, Miguel A., Moreno, Felipe, del Castillo, Ignacio
Publicado 2013

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

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

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

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

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

por Domínguez-Ruiz, María, Rodríguez-Ballesteros, Montserrat, Gandía, Marta, Gómez-Rosas, Elena, Villamar, Manuela, Scimemi, Pietro, Mancini, Patrizia, Rendtorff, Nanna D., Moreno-Pelayo, Miguel A., Tranebjaerg, Lisbeth, Medà, Carme, Santarelli, Rosamaria, del Castillo, Ignacio
Publicado 2022

Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

por Domínguez-Ruiz, María, Ruiz-Palmero, Laura, Buonfiglio, Paula I., García-Vaquero, Irene, Gómez-Rosas, Elena, Goñi, Marina, Villamar, Manuela, Morín, Matías, Moreno-Pelayo, Miguel A., Elgoyhen, Ana B., del Castillo, Francisco J., Dalamón, Viviana, del Castillo, Ignacio
Publicado 2023

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

por 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.
Publicado 2020

Thalamic Foxp2 regulates output connectivity and sensory-motor impairments in a model of Huntington’s Disease

por Rodríguez-Urgellés, Ened, Casas-Torremocha, Diana, Sancho-Balsells, Anna, Ballasch, Iván, García-García, Esther, Miquel-Rio, Lluis, Manasanch, Arnau, del Castillo, Ignacio, Chen, Wanqi, Pupak, Anika, Brito, Veronica, Tornero, Daniel, Rodríguez, Manuel J., Bortolozzi, Analia, Sanchez-Vives, Maria V., Giralt, Albert, Alberch, Jordi
Publicado 2023

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment

por Jonard, Laurence, Brotto, Davide, Moreno-Pelayo, Miguel A., del Castillo, Ignacio, Kremer, Hannie, Pennings, Ronald, Caria, Helena, Fialho, Graça, Boudewyns, An, Van Camp, Guy, Ołdak, Monika, Oziębło, Dominika, Deggouj, Naïma, De Siati, Romolo Daniele, Gasparini, Paolo, Girotto, Giorgia, Verstreken, Margriet, Dossena, Silvia, Roesch, Sebastian, Battelino, Saba, Trebušak Podkrajšek, Katarina, Warnecke, Athanasia, Lenarz, Thomas, Lesinski-Schiedat, Anke, Mondain, Michel, Roux, Anne-Françoise, Denoyelle, Françoise, Loundon, Natalie, Serey Gaut, Margaux, Trevisi, Patrizia, Rubinato, Elisa, Martini, Alessandro, Marlin, Sandrine
Publicado 2023

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

por Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Choy, Kwong Wai, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Tayoun, Ahmad N. Abou
Publicado 2019