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Connexin-26 mutations in sporadic and inherited sensorineural deafness.
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P. Estivill X, et al. Among authors: rabionet r. Lancet. 1998 Feb 7;351(9100):394-8. doi: 10.1016/S0140-6736(97)11124-2. Lancet. 1998. PMID: 9482292 Free article.
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P. Grifa A, et al. Among authors: rabionet r. Nat Genet. 1999 Sep;23(1):16-8. doi: 10.1038/12612. Nat Genet. 1999. PMID: 10471490 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: rabionet r. Am J Hum Genet. 1999 Nov;65(5):1349-58. doi: 10.1086/302642. Am J Hum Genet. 1999. PMID: 10521300 Free PMC article.
Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation.
López-Bigas N, Rabionet R, Martinez E, Bravo O, Girons J, Borragan A, Pellicer M, Arbonés ML, Estivill X. López-Bigas N, et al. Among authors: rabionet r. Am J Hum Genet. 2000 Apr;66(4):1465-7. doi: 10.1086/302870. Am J Hum Genet. 2000. PMID: 10739773 Free PMC article. No abstract available.
148 results