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

An Unusual Case of Prolymphocytic Leukemia Transformation in a Patient With Chronic Lymphocytic Leukemia

por Bell, Stephen, Lattanzio, Natalia, Braham, Julaine, Campdesuner, Victoria, Abdelal, Qassem, Vartanov, Alexander, Pelayo, Miguel
Publicado 2021

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

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants

por Lachgar-Ruiz, María, Morín, Matías, Martelletti, Elisa, Ingham, Neil J., Preite, Lorenzo, Lewis, Morag A., Serrão de Castro, Luciana Santos, Steel, Karen P., Moreno-Pelayo, Miguel Ángel
Publicado 2023

Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

por Fañanas-Baquero, Sara, Morín, Matías, Fernández, Sergio, Ojeda-Perez, Isabel, Dessy-Rodriguez, Mercedes, Giurgiu, Miruna, Bueren, Juan A., Moreno-Pelayo, Miguel Angel, Segovia, Jose Carlos, Quintana-Bustamante, Oscar
Publicado 2023

Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models

por López-Huertas, María Rosa, Morín, Matías, Madrid-Elena, Nadia, Gutiérrez, Carolina, Jiménez-Tormo, Laura, Santoyo, Javier, Sanz-Rodríguez, Francisco, Moreno Pelayo, Miguel Ángel, Bermejo, Laura García, Moreno, Santiago
Publicado 2019

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

por Al Yassin, Amina, D’Arco, Felice, Morín, Matías, Pagarkar, Waheeda, Harrop-Griffiths, Katherine, Shaida, Azhar, Fernández, Elena, Cullup, Tom, De-Souza, Bianca, Moreno-Pelayo, Miguel Angel, Bitner-Glindzicz, Maria
Publicado 2019

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane

por Legan, P. Kevin, Goodyear, Richard J., Morín, Matías, Mencia, Angeles, Pollard, Hilary, Olavarrieta, Leticia, Korchagina, Julia, Modamio-Hoybjor, Silvia, Mayo, Fernando, Moreno, Felipe, Moreno-Pelayo, Miguel-Angel, Richardson, Guy P.
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

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

por López-Márquez, Arístides, Morín, Matías, Fernández-Peñalver, Sergio, Badosa, Carmen, Hernández-Delgado, Alejandro, Natera-de Benito, Daniel, Ortez, Carlos, Nascimento, Andrés, Grinberg, Daniel, Balcells, Susanna, Roldán, Mónica, Moreno-Pelayo, Miguel Ángel, Jiménez-Mallebrera, Cecilia
Publicado 2022

Selective miRNA inhibition in CD8(+) cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses

por Madrid-Elena, Nadia, Serrano-Villar, Sergio, Gutiérrez, Carolina, Sastre, Beatriz, Morín, Matías, Luna, Laura, Martín, Laura, Santoyo-López, Javier, López-Huertas, María Rosa, Moreno, Elena, García-Bermejo, María Laura, Moreno-Pelayo, Miguel Ángel, Moreno, Santiago
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

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

por Tarilonte, María, Morín, Matías, Ramos, Patricia, Galdós, Marta, Blanco-Kelly, Fiona, Villaverde, Cristina, Rey-Zamora, Dolores, Rebolleda, Gema, Muñoz-Negrete, Francisco J., Tahsin-Swafiri, Saoud, Gener, Blanca, Moreno-Pelayo, Miguel-Angel, Ayuso, Carmen, Villamar, Manuela, Corton, Marta
Publicado 2018

Therapeutic Potential of EWSR1–FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma

por Cervera, Saint T., Rodríguez-Martín, Carlos, Fernández-Tabanera, Enrique, Melero-Fernández de Mera, Raquel M., Morin, Matias, Fernández-Peñalver, Sergio, Iranzo-Martínez, Maria, Amhih-Cardenas, Jorge, García-García, Laura, González-González, Laura, Moreno-Pelayo, Miguel Angel, Alonso, Javier
Publicado 2021

An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice

por Lewis, Morag A, Quint, Elizabeth, Glazier, Anne M, Fuchs, Helmut, De Angelis, Martin Hrabé, Langford, Cordelia, van Dongen, Stijn, Abreu-Goodger, Cei, Piipari, Matias, Redshaw, Nick, Dalmay, Tamas, Pelayo, Miguel Angel Moreno, Enright, Anton J, Steel, Karen P
Publicado 2009

Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse

por Zhu, Guang‐Jie, Huang, Yuhang, Zhang, Linqing, Yan, Keji, Qiu, Cui, He, Yihan, Liu, Qing, Zhu, Chengwen, Morín, Matías, Moreno‐Pelayo, Miguel Ángel, Zhu, Min‐Sheng, Cao, Xin, Zhou, Han, Qian, Xiaoyun, Xu, Zhigang, Chen, Jie, Gao, Xia, Wan, Guoqiang
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

CSVS, a crowdsourcing database of the Spanish population genetic variability

por Peña-Chilet, María, Roldán, Gema, Perez-Florido, Javier, Ortuño, Francisco M, Carmona, Rosario, Aquino, Virginia, Lopez-Lopez, Daniel, Loucera, Carlos, Fernandez-Rueda, Jose L, Gallego, Asunción, García-Garcia, Francisco, González-Neira, Anna, Pita, Guillermo, Núñez-Torres, Rocío, Santoyo-López, Javier, Ayuso, Carmen, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Moreno-Pelayo, Miguel Ángel, Morin, Matías, Gallego-Martinez, Alvaro, Lopez-Escamez, Jose A, Borrego, Salud, Antiñolo, Guillermo, Amigo, Jorge, Salgado-Garrido, Josefa, Pasalodos-Sanchez, Sara, Morte, Beatriz, Carracedo, Ángel, Alonso, Ángel, Dopazo, Joaquín
Publicado 2020