Browsing Publicaciones UAX by Author "Moreno Pelayo, Miguel Angel"

Now showing items 1-13 of 13

A leaky mutation in CD3D differentially affects ¿¿ and ¿¿ T cells and leads to a T¿¿¿T¿¿+B+NK+ human SCID Gil, Juana; Busto, Elena M.; Garcillán, Beatriz; Chean, Carmen; García Rodríguez, Maria Cruz; Díaz Alderete, Andrea; Navarro, Joaquín; Reiné, Jesús; Mencía, Angeles; Gurbindo, Dolores; Beléndez, Cristina; Gordillo, Isabel; Duchniewicz, Marlena; Höhne, Kerstin; García Sánchez, Félix; Fernández Cruz, Eduardo; López Granados, Eduardo; Schamel, Wolfgang W.A.; Moreno Pelayo, Miguel Angel; Recio, María J.; Regueiro, José R. Date: 2011-10
A novel deletion involving the connexin-30 gene, del(GJB6- d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment del Castillo, F J; Rodríguez Ballesteros, M; Álvarez, A; Hutchin, T; Leonardi, E; de Oliveira, C A; Azaiez, H; Brownstein, Z; Avenarius, M R; Marlin, S; Pandya, A; Shahin, H; Siemering, K R; Weil, D; Wuyts, W; Aguirre, L A; Martín, Y; Moreno Pelayo, Miguel Angel; Villamar, M; Avraham, K B; Dahl, H-H M; Kanaan, M; Nance, W E; Petit, C; Smith, R J H; Van Camp, G; Sartorato, E L; Murgia, A; Moreno, F; del Castillo, I Date: 2005
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci Modamio Høybjør, S; Mencía, A; Moreno Pelayo, Miguel Angel; del Castillo, I; Chardenoux, S; D Morais, D; Lathrop, M; Petit, C; Moreno, F Date: 2004
A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment Gandía, Marta; del Castillo, Francisco J.; Rodríguez Álvarez, Francisco J.; Garrido, Gema; Villamar, Manuela; Calderón, Manuela; Moreno Pelayo, Miguel Angel; Moreno, Felipe; del Castillo, Ignacio Date: 2013-09
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 Zazo Seco, Celia; Serrao 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; Baylor-Hopkins Center for Mendelian Genomics; 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 Date: 2015-11
An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice Lewis, Morag A; Quint, Elizabeth; Glazier, Anne M; Fuchs, Helmut; Hrabé De Angelis, Martin; Langford, Cordelia; van Dongen, Stijn; Abreu Goodger, Cei; Piipari, Matias; Redshaw, Nick; Dalmay, Tamas; Moreno Pelayo, Miguel Angel; Enright, Anton J; Steel, Karen P Date: 2009-05
ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs DiStefano, Marina T.; Hemphill, Sarah E.; Oza, Andrea M.; Siegert, Rebecca K.; Grant, Andrew R.; Y. Hughes, Madeline; Cushman, Brandon J.; Azaiez, Hela; Booth, Kevin T.; Chapin, Alex; Duzkale, Hatice; Matsunaga, Tatsuo; Shen, Jun; Zhang, Wenying; Kenna, Margaret; Schimmenti; Tekin, Mustafa; Rehm, Heidi L.; Abou Tayoun, Ahmad N.; Amr, Sami S.; ClinGen Hearing Loss Clinical Domain Working Group; Moreno Pelayo, Miguel Angel Date: 2009-06
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel Shen, Jun; Oza, Andrea M.; del Castillo, Ignacio; Moreno Pelayo, Miguel Angel Date: 2019-11
DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss 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 Angel Date: 2011-07
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants 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, Miguel Angel Date: 2020
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia 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 Date: 2018-10
Prevalencia de las mutaciones 35delG en el gen GJB2, del (GJB6-D13S1830) en el gen GJB6, Q829X en el gen OTOF y A1555G en el gen del ARNr 12S mitocondrial en sujetos con hipoacusia neurosensorial no sindrómica de inicio congénito o en la infancia Gallo Terán, J.; Morales Angulo, C.; Rodríguez Ballesteros, M.; Moreno Pelayo, Miguel Angel; del Castillo, I.; Moreno, F. Date: 2005
Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane Kevin Legan, P.; 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. Date: 2014