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

di Lachgar, María, Morín, Matías, Villamar, Manuela, del Castillo, Ignacio, Moreno-Pelayo, Miguel Ángel
Pubblicato in Genes (Basel) (2021)

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

di 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
Pubblicato in Mol Ther Nucleic Acids (2019)

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

di 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
Pubblicato in Genes (Basel) (2019)

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

di 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.
Pubblicazione 2014

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

di Morín, Matías, Bryan, Keith E., Mayo-Merino, Fernando, Goodyear, Richard, Mencía, Ángeles, Modamio-Høybjør, Silvia, del Castillo, Ignacio, Cabalka, Jessica M., Richardson, Guy, Moreno, Felipe, Rubenstein, Peter A., Moreno-Pelayo, Miguel Ángel
Pubblicazione 2009

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

di 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
Pubblicato in Front Genet (2018)

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

di 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.
Pubblicato in Sci Rep (2020)

DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss

di Hildebrand, Michael S., Morín, Matías, Meyer, Nicole C., Mayo, Fernando, Modamio-Hoybjor, Silvia, Mencía, Angeles, Olavarrieta, Leticia, Morales-Angulo, Carmelo, Nishimura, Carla J., Workman, Heather, DeLuca, Adam P., del Castillo, Ignacio, Taylor, Kyle R., Tompkins, Bruce, Goodman, Corey W., Schrauwen, Isabelle, Van Wesemael, Maarten, Lachlan, K., Shearer, A. Eliot, Braun, Terry A., Huygen, Patrick L.M., Kremer, Hannie, Van Camp, Guy, Moreno, Felipe, Casavant, Thomas L., Smith, Richard J.H., Moreno-Pelayo, Miguel A.
Pubblicazione 2011

CSVS, a crowdsourcing database of the Spanish population genetic variability

di 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
Pubblicato in Nucleic Acids Res (2020)

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

di Zazo Seco, Celia, Serrão de Castro, Luciana, van Nierop, Josephine W., Morín, Matías, Jhangiani, Shalini, Verver, Eva J.J., Schraders, Margit, Maiwald, Nadine, Wesdorp, Mieke, Venselaar, Hanka, Spruijt, Liesbeth, Oostrik, Jaap, Schoots, Jeroen, van Reeuwijk, Jeroen, Lelieveld, Stefan H., Huygen, Patrick L.M., Insenser, María, Admiraal, Ronald J.C., Pennings, Ronald J.E., Hoefsloot, Lies H., Arias-Vásquez, Alejandro, de Ligt, Joep, Yntema, Helger G., Jansen, Joop H., Muzny, Donna M., Huls, Gerwin, van Rossum, Michelle M., Lupski, James R., Moreno-Pelayo, Miguel Angel, Kunst, Henricus P.M., Kremer, Hannie
Pubblicato in Am J Hum Genet (2015)