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Results: 1-7 |
Results: 7
R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?
Authors: Lopez-Bigas, N Rabionet, R Arbones, ML Estivill, X
Citation: N. Lopez-bigas et al., R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?, EUR J HUM G, 9(1), 2001, pp. 70-70
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
Authors: Lopez-Bigas, N Olive, M Rabionet, R Ben-David, O Martinez-Matos, JA Bravo, O Banchs, I Volpini, V Gasparini, P Avraham, KB Ferrer, I Arbones, ML Estivill, X
Citation: N. Lopez-bigas et al., Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment, HUM MOL GEN, 10(9), 2001, pp. 947-952
Molecular basis of childhood deafness resulting from mutations in the GJB2(connexin 26) gene
Authors: Rabionet, R Zelante, L Lopez-Bigas, N D'Agruma, L Melchionda, S Restagno, G Arbones, ML Gasparini, P Estivill, X
Citation: R. Rabionet et al., Molecular basis of childhood deafness resulting from mutations in the GJB2(connexin 26) gene, HUM GENET, 106(1), 2000, pp. 40-44
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
Authors: Lopez-Bigas, N Rabionet, R Martinez, E Bravo, O Girons, J Borragan, A Pellicer, M Arbones, ML Estivill, X
Citation: N. Lopez-bigas et al., 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, AM J HU GEN, 66(4), 2000, pp. 1465-1467
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
Authors: Grifa, A Wagner, CA D'Ambrosio, L Melchionda, S Bernardi, F Lopez-Bigas, N Rabionet, R Arbones, M Della Monica, M Estivill, X Zelante, L Lang, F Gasparini, P
Citation: A. Grifa et al., Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus, NAT GENET, 23(1), 1999, pp. 16-18
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome
Authors: Lopez-Bigas, N Rabionet, R de Cid, R Govea, N Gasparini, P Zelante, L Arbones, ML Estivill, X
Citation: N. Lopez-bigas et al., Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome, HUM MUTAT, 14(6), 1999, pp. 520-526
The A1555G mutation in the 12S rRNA gene of human mtDNA: Recurrent originsand founder events in families affected by sensorineural deafness
Authors: Torroni, A Cruciani, F Rengo, C Sellitto, D Lopez-Bigas, N Rabionet, R Govea, N de Munain, AL Sarduy, M Romero, L Villamar, M del Castillo, I Moreno, F Estivill, X Scozzari, R
Citation: A. Torroni et al., The A1555G mutation in the 12S rRNA gene of human mtDNA: Recurrent originsand founder events in families affected by sensorineural deafness, AM J HU GEN, 65(5), 1999, pp. 1349-1358
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