Govea 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. Among authors: govea n. 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

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.

Estivill X, Govea N, Barceló E, Badenas C, Romero E, Moral L, Scozzri R, D'Urbano L, Zeviani M, Torroni A. Estivill X, et al. Among authors: govea n. Am J Hum Genet. 1998 Jan;62(1):27-35. doi: 10.1086/301676. Am J Hum Genet. 1998. PMID: 9490575 Free PMC article.

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. Among authors: govea n. 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

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: govea n. Lancet. 1998 Feb 7;351(9100):394-8. doi: 10.1016/S0140-6736(97)11124-2. Lancet. 1998. PMID: 9482292 Free article.

5

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Zelante L, et al. Among authors: govea n. Hum Mol Genet. 1997 Sep;6(9):1605-9. doi: 10.1093/hmg/6.9.1605. Hum Mol Genet. 1997. PMID: 9285800

6

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. Among authors: govea n. 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.

7

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield ES, Sandkuijl L, Surrey S, Fortina P. Gasparini P, et al. Among authors: govea n. Eur J Hum Genet. 1997 Mar-Apr;5(2):83-8. Eur J Hum Genet. 1997. PMID: 9195157

8

Erratum: 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. Among authors: govea n. Hum Mutat. 2002 Jul;20(1):77-8. doi: 10.1002/humu.9043. Hum Mutat. 2002. PMID: 12112665

9

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.

Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X. Ballana E, et al. Among authors: govea n. Hum Mutat. 2008 Feb;29(2):248-57. doi: 10.1002/humu.20639. Hum Mutat. 2008. PMID: 17999439

10

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.

Heine-Suñer D, Torres-Juan L, Morlà M, Busquets X, Barceló F, Picó G, Bonilla L, Govea N, Bernués M, Rosell J. Heine-Suñer D, et al. Among authors: govea n. Am J Med Genet A. 2003 Oct 1;122A(2):108-14. doi: 10.1002/ajmg.a.20160. Am J Med Genet A. 2003. PMID: 12955761

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