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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: moreno f. 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: moreno f. 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.
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.
A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.
Aguirre LA, del Castillo I, Macaya A, Medá C, Villamar M, Moreno-Pelayo MA, Moreno F. Aguirre LA, et al. Among authors: moreno pelayo ma, moreno f. Am J Med Genet A. 2006 Feb 15;140(4):392-7. doi: 10.1002/ajmg.a.31079. Am J Med Genet A. 2006. PMID: 16411215 No abstract available.
Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci.
Velasco E, de la Puente A, Cruces J, Valero MC, García-Patiño E, del Castillo I, Coloma A, Moreno F, Hernández-Chico C. Velasco E, et al. Among authors: moreno f. Hum Mol Genet. 1994 Aug;3(8):1441. doi: 10.1093/hmg/3.8.1441. Hum Mol Genet. 1994. PMID: 7987335 No abstract available.
1,482 results