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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: moreno pelayo ma, moreno f. 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.
Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.
Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Rivera T, Solanellas J, Moreno F. Alvarez A, et al. Among authors: moreno pelayo ma, moreno f. J Med Genet. 2003 Aug;40(8):636-9. doi: 10.1136/jmg.40.8.636. J Med Genet. 2003. PMID: 12920081 Free PMC article. No abstract available.
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G. Cryns K, et al. Among authors: moreno f. J Med Genet. 2004 Mar;41(3):147-54. doi: 10.1136/jmg.2003.013896. J Med Genet. 2004. PMID: 14985372 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: moreno pelayo ma, moreno f. 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 and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F. Del Castillo I, et al. Among authors: moreno pelayo ma, moreno f. Am J Hum Genet. 2003 Dec;73(6):1452-8. doi: 10.1086/380205. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14571368 Free PMC 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: moreno pelayo ma, moreno f. 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.
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.
del Castillo FJ, Rodríguez-Ballesteros M, Martín Y, Arellano B, Gallo-Terán J, Morales-Angulo C, Ramírez-Camacho R, Cruz Tapia M, Solanellas J, Martínez-Conde A, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. del Castillo FJ, et al. Among authors: moreno pelayo ma, moreno f. J Med Genet. 2003 Aug;40(8):632-6. doi: 10.1136/jmg.40.8.632. J Med Genet. 2003. PMID: 12920080 Free PMC article. No abstract available.
1,475 results