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Results: 1-8 |
Results: 8
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
Functional genomics of Down syndrome: a multidisciplinary approach
Authors: Dierssen, M Marti, E Pucharcos, C Fotaki, V Altafaj, X Casas, K Solans, A Arbones, ML Fillat, C Estivill, X
Citation: M. Dierssen et al., Functional genomics of Down syndrome: a multidisciplinary approach, J NEUR TR-S, (61), 2001, pp. 131-148
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss
Authors: Melchionda, S Ahituv, N Bisceglia, L Sobe, T Glaser, F Rabionet, R Arbones, ML Notarangelo, A Di Iorio, E Carella, M Zelante, L Estivill, X Avraham, KB Gasparini, P
Citation: S. Melchionda et al., MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss, AM J HU GEN, 69(3), 2001, pp. 635-640
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
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
Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome
Authors: Pucharcos, C Fuentes, JJ Casas, C de la Luna, S Alcantara, S Arbones, ML Soriano, E Estivill, X Pritchard, M
Citation: C. Pucharcos et al., Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome, EUR J HUM G, 7(6), 1999, pp. 704-712
Risultati: 1-8 |