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Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
Morín M, Borreguero L, Booth KT, Lachgar M, Huygen P, Villamar M, Mayo F, Barrio LC, Santos Serrão de Castro L, Morales C, Del Castillo I, Arellano B, Tellería D, Smith RJH, Azaiez H, Moreno Pelayo MA. Morín M, et al. Among authors: del castillo i. Sci Rep. 2020 Apr 10;10(1):6213. doi: 10.1038/s41598-020-63256-5. Sci Rep. 2020. PMID: 32277154 Free PMC article.
A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.
Moreno-Pelayo MA, del Castillo I, Villamar M, Romero L, Hernández-Calvín FJ, Herraiz C, Barberá R, Navas C, Moreno F. Moreno-Pelayo MA, et al. Among authors: del castillo i. J Med Genet. 2001 May;38(5):E13. doi: 10.1136/jmg.38.5.e13. J Med Genet. 2001. PMID: 11333869 Free PMC article. No abstract available.
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.
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA, Rodríguez-Ballesteros M, Villamar M, Tellería D, Menéndez I, Moreno F, Del Castillo I. Migliosi V, et al. Among authors: del castillo i. J Med Genet. 2002 Jul;39(7):502-6. doi: 10.1136/jmg.39.7.502. J Med Genet. 2002. PMID: 12114484 Free PMC article. No abstract available.
[Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria].
Gallo-Terán J, Morales-Angulo C, del Castillo I, Villamar M, Moreno-Pelayo MA, García-Mantilla J, Moreno F. Gallo-Terán J, et al. Among authors: del castillo i. Acta Otorrinolaringol Esp. 2002 Oct;53(8):563-71. doi: 10.1016/s0001-6519(02)78349-0. Acta Otorrinolaringol Esp. 2002. PMID: 12530196 Free article. Spanish.
109 results