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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: del castillo i. Genes (Basel). 2024 Jul 19;15(7):951. doi: 10.3390/genes15070951. Genes (Basel). 2024. PMID: 39062730 Free PMC article.
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Domínguez-Ruiz M, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, Mancini P, Rendtorff ND, Moreno-Pelayo MA, Tranebjaerg L, Medà C, Santarelli R, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: del castillo i. Genes (Basel). 2022 Jan 15;13(1):149. doi: 10.3390/genes13010149. Genes (Basel). 2022. PMID: 35052489 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: del castillo i. Biomedicines. 2023 Oct 31;11(11):2943. doi: 10.3390/biomedicines11112943. Biomedicines. 2023. PMID: 38001944 Free PMC article.
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Tellería D, Menéndez I, Moreno F. del Castillo I, et al. Among authors: del castillo fj. N Engl J Med. 2002 Jan 24;346(4):243-9. doi: 10.1056/NEJMoa012052. N Engl J Med. 2002. PMID: 11807148 Free article.
[Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset].
Gallo-Terán J, Morales-Angulo C, Rodríguez-Ballesteros M, Moreno-Pelayo MA, del Castillo I, Moreno F. Gallo-Terán J, et al. Among authors: del castillo i. Acta Otorrinolaringol Esp. 2005 Dec;56(10):463-8. doi: 10.1016/s0001-6519(05)78649-0. Acta Otorrinolaringol Esp. 2005. PMID: 16425640 Free article. Spanish.
A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.
Gandía M, Del Castillo FJ, Rodríguez-Álvarez FJ, Garrido G, Villamar M, Calderón M, Moreno-Pelayo MA, Moreno F, del Castillo I. Gandía M, et al. Among authors: del castillo fj, del castillo i. PLoS One. 2013 Sep 6;8(9):e73566. doi: 10.1371/journal.pone.0073566. eCollection 2013. PLoS One. 2013. PMID: 24039984 Free PMC article.
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Gandía M, Fernández-Toral J, Solanellas J, Domínguez-Ruiz M, Gómez-Rosas E, Del Castillo FJ, Villamar M, Moreno-Pelayo MA, Del Castillo I. Gandía M, et al. Among authors: del castillo fj, del castillo i. Pediatr Res. 2015 Jul;78(1):97-102. doi: 10.1038/pr.2015.56. Epub 2015 Mar 18. Pediatr Res. 2015. PMID: 25785835
112 results