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Page 1
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
Domínguez-Ruiz M, Olarte M, Onecha E, García-Vaquero I, Gelvez N, López G, Villamar M, Morín M, Moreno-Pelayo MA, Morales-Angulo C, Polo R, Tamayo ML, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: moreno pelayo ma. Genes (Basel). 2024 Jul 19;15(7):951. doi: 10.3390/genes15070951. Genes (Basel). 2024. PMID: 39062730 Free PMC article.
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.
Fañanas-Baquero S, Morín M, Fernández S, Ojeda-Perez I, Dessy-Rodriguez M, Giurgiu M, Bueren JA, Moreno-Pelayo MA, Segovia JC, Quintana-Bustamante O. Fañanas-Baquero S, et al. Among authors: moreno pelayo ma. Front Genome Ed. 2023 Apr 28;5:1104666. doi: 10.3389/fgeed.2023.1104666. eCollection 2023. Front Genome Ed. 2023. PMID: 37188156 Free PMC article.
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Among authors: moreno pelayo ma. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
Domínguez-Ruiz M, Ruiz-Palmero L, Buonfiglio PI, García-Vaquero I, Gómez-Rosas E, Goñi M, Villamar M, Morín M, Moreno-Pelayo MA, Elgoyhen AB, Del Castillo FJ, Dalamón V, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: moreno pelayo ma. Biomedicines. 2023 Oct 31;11(11):2943. doi: 10.3390/biomedicines11112943. Biomedicines. 2023. PMID: 38001944 Free PMC article.
Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?
Vida-Navas E, Barca-Tierno V, López-Gómez V, Salazar MT, Moreno-Pelayo MA, Guillén-Ponce C. Vida-Navas E, et al. Among authors: moreno pelayo ma. Genes (Basel). 2024 Sep 15;15(9):1209. doi: 10.3390/genes15091209. Genes (Basel). 2024. PMID: 39336800 Free PMC article.
Evolution of CRISPR-associated endonucleases as inferred from resurrected proteins.
Alonso-Lerma B, Jabalera Y, Samperio S, Morin M, Fernandez A, Hille LT, Silverstein RA, Quesada-Ganuza A, Reifs A, Fernández-Peñalver S, Benitez Y, Soletto L, Gavira JA, Diaz A, Vranken W, Sanchez-Mejias A, Güell M, Mojica FJM, Kleinstiver BP, Moreno-Pelayo MA, Montoliu L, Perez-Jimenez R. Alonso-Lerma B, et al. Among authors: moreno pelayo ma. Nat Microbiol. 2023 Jan;8(1):77-90. doi: 10.1038/s41564-022-01265-y. Epub 2023 Jan 2. Nat Microbiol. 2023. PMID: 36593295 Free PMC article.
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
Bravo-Alonso I, Morin M, Arribas-Carreira L, Álvarez M, Pedrón-Giner C, Soletto L, Santolaria C, Ramón-Maiques S, Ugarte M, Rodríguez-Pombo P, Ariño J, Moreno-Pelayo MÁ, Pérez B. Bravo-Alonso I, et al. Among authors: moreno pelayo ma. J Inherit Metab Dis. 2023 Mar;46(2):261-272. doi: 10.1002/jimd.12584. Epub 2023 Jan 2. J Inherit Metab Dis. 2023. PMID: 36564894
81 results