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Buscar por Autor Moreno-Pelayo, MA
Mostrando resultados 1 a 13 de 13
| Fecha de publicación | Título | Autor(es) | | oct-2011 | A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID | Gil, J; Busto, EM; Garcillan, B; Chean, C; García-Rodríguez, MC; Díaz-Alderete, A; Navarro, J; Reiné, J; Mencía, A; Gurbino, D; Beléndez, C; Gordillo, I; Duchniewicz, M; Höhne, K; García-Sánchez, F; Fernández-Cruz, E; López-Granados, E; Schamel, WWA; Moreno-Pelayo, MA; Recio, MJ; Regueiro, JR |
| jun-2007 | A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss | Modamio-Høybjør, S; Mencía, A; Goodyear, R; del Castillo, I; Richardson, G; Moreno, F; Moreno-Pelayo, MA |
| feb-2008 | A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression | Mencía, A; Gómez-Nieto, D; Modamio-Høybjør, S; Etxeberría, A; Aranguez, G; Salvador, N; del Castillo, I; Villarroel, A; Moreno, F; Barrio, L; Moreno-Pelayo, MA |
| ene-2023 | A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29 | Modamio-Høybjør, S; Moreno-Pelayo, MA; Mencía, A; del Castillo, I; Chardenoux, S; Armenta, D; Lathrop, M; Petite, C; Moreno, F |
| feb-2004 | A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci | Modamio-Høybjør, S; Moreno-Pelayo, MA; Mencía, A; del Castillo, I; Chardenoux, S; Morais, D; Lathrop, M; Petite, C; Moreno, F |
| jun-2008 | Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene | Moreno-Pelayo, MA; Goodyear, R; Mencía, A; Modamio-Høybjør, S; Legan, PK; Olavarrieta, L; Moreno, F; Richardson, GP |
| nov-2023 | DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 | Moreno-Pelayo, MA; Modamio-Høybjør, S; Mencía, A; del Castillo, I; Chardenoux, S; Fernández-Burriel, M; Lathrop, M; Petite, C; Moreno, F |
| jul-2011 | DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss | Hildebrand, MS; Morín, M; Meyer, NC; Mayo-Merino, F; Modamio-Høybjør, S; Mencía, A; Olavarrieta, L; Morales-Angulo, Carmelo; Nishimura, CJ; Workman, H; DeLuca, AP; del Castillo, I; Taylor, KR; Tompkins, B; Goodman, CW; Schrauwen, I; Van Wesemael, M; Lachlan, K; Shearer, AE; Braun, TA; Huygen, PLM; Kremer, H; Van Camp, G; Moreno, F; Casavant, TL; Smith, RJH; Moreno-Pelayo, MA |
| 15-feb-2007 | Differential biological role of CD3 chains revealed by human immunodeficiencies | Recio, MJ; Moreno-Pelayo, MA; Kiliç, SS; Guardo, AC; Sanal, O; Allende, LM; Pérez-Flores, V; Mencía, A; Modamio-Høybjør, S; Seoane, E; Regueiro, JR |
| ene-2008 | Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies | Mancebo, E; Moreno-Pelayo, MA; Mencía, A; de la Calle-Martín, O; Allende, LM; Sivadorai, P; Kalaydjieva, L; Bertranpetit, J; Coto, E; Calleja-Antolín, S; Ruiz-Contreras, J; Paz-Artal, E |
| ago-2009 | In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment | Morín, M; Bryan, KE; Mayo-Merino, F; Goodyear, R; Mencía, A; Modamio-Høybjør, S; del Castillo, I; Cabalka, JM; Richardson, GP; Moreno, F; Rubenstein, PA; Moreno-Pelayo, MA |
| may-2009 | Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss | Mencía, A; Modamio-Høybjør, S; Redshaw, N; Morín, M; Mayo-Merino, F; Olavarrieta, L; Aguirre, LA; del Castillo, I; Steel, KP; Dalmay, T; Moreno, F; Moreno-Pelayo, MA |
| may-2014 | Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane | Legan, PK; Goodyear, RJ; Morín, M; Mencía, A; Pollard, H; Olavarrieta, L; Korchagina, J; Modamio-Høybjør, S; Mayo, F; Moreno, F; Moreno-Pelayo, MA; Richardson, GP |
Mostrando resultados 1 a 13 de 13
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