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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 FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I. del Castillo FJ, et al. Among authors: villamar m. J Med Genet. 2005 Jul;42(7):588-94. doi: 10.1136/jmg.2004.028324. J Med Genet. 2005. PMID: 15994881 Free PMC article. No abstract available.
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.
Torroni A, Cruciani F, Rengo C, Sellitto D, López-Bigas N, Rabionet R, Govea N, López De Munain A, Sarduy M, Romero L, Villamar M, del Castillo I, Moreno F, Estivill X, Scozzari R. Torroni A, et al. Among authors: villamar m. Am J Hum Genet. 1999 Nov;65(5):1349-58. doi: 10.1086/302642. Am J Hum Genet. 1999. PMID: 10521300 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: villamar m. 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: villamar m. 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: villamar m. 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.
99 results