López-Bigas N - Search Results

1

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. Am J Hum Genet. 1999 Nov;65(5):1349-58. doi: 10.1086/302642. Am J Hum Genet. 1999. PMID: 10521300 Free PMC article.

2

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. Nat Genet. 1999 Sep;23(1):16-8. doi: 10.1038/12612. Nat Genet. 1999. PMID: 10471490 No abstract available.

3

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

López-Bigas N, Rabionet R, de Cid R, Govea N, Gasparini P, Zelante L, Arbonés ML, Estivill X. López-Bigas N, et al. Hum Mutat. 1999;14(6):520-6. doi: 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10571950

4

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. 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.

5

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.

López-Bigas N, Rabionet R, Martínez E, Banchs I, Volpini V, Vance JM, Arbonés ML, Estivill X. López-Bigas N, et al. Hum Mutat. 2000 May;15(5):481-2. doi: 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7. Hum Mutat. 2000. PMID: 10790215

6

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

Rabionet R, Zelante L, López-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbonés ML, Gasparini P, Estivill X. Rabionet R, et al. Hum Genet. 2000 Jan;106(1):40-4. doi: 10.1007/s004390051007. Hum Genet. 2000. PMID: 10982180

7

R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?

López-Bigas N, Rabionet R, Arbonés ML, Estivill X. López-Bigas N, et al. Eur J Hum Genet. 2001 Jan;9(1):70. doi: 10.1038/sj.ejhg.5200569. Eur J Hum Genet. 2001. PMID: 11175305 No abstract available.

8

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

López-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X. López-Bigas N, et al. Hum Mol Genet. 2001 Apr 15;10(9):947-52. doi: 10.1093/hmg/10.9.947. Hum Mol Genet. 2001. PMID: 11309368

9

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X. López-Bigas N, et al. Hum Mutat. 2001 Dec;18(6):548. doi: 10.1002/humu.1238. Hum Mutat. 2001. Corrected and republished in: Hum Mutat. 2002 Jul;20(1):77-8. doi: 10.1002/humu.9043. PMID: 11748854 Corrected and republished.

10

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.

López-Bigas N, Melchionda S, Gasparini P, Borragán A, Arbonés ML, Estivill X. López-Bigas N, et al. Hum Mutat. 2002 Apr;19(4):458. doi: 10.1002/humu.9023. Hum Mutat. 2002. PMID: 11933201

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