Ballana E - Search Results

1

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N. Guan MX, et al. Among authors: ballana e. Am J Hum Genet. 2006 Aug;79(2):291-302. doi: 10.1086/506389. Epub 2006 Jun 22. Am J Hum Genet. 2006. PMID: 16826519 Free PMC article.

2

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

Ballana E, Mercader JM, Fischel-Ghodsian N, Estivill X. Ballana E, et al. BMC Med Genet. 2007 Dec 21;8:81. doi: 10.1186/1471-2350-8-81. BMC Med Genet. 2007. PMID: 18154640 Free PMC article.

3

Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.

Bravo O, Ballana E, Estivill X. Bravo O, et al. Among authors: ballana e. Biochem Biophys Res Commun. 2006 Jun 2;344(2):511-6. doi: 10.1016/j.bbrc.2006.03.143. Epub 2006 Mar 30. Biochem Biophys Res Commun. 2006. PMID: 16631122 Clinical Trial.

4

Reply to correspondence by Abreu-Silva et al. regarding Ballana et al.: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin.

Ballana E, Morales E, Estivill X. Ballana E, et al. Biochem Biophys Res Commun. 2006 Aug 4;346(3):619-20. doi: 10.1016/j.bbrc.2006.05.098. Epub 2006 May 30. Biochem Biophys Res Commun. 2006. PMID: 16777068 No abstract available.

5

A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

González JR, Wang W, Ballana E, Estivill X. González JR, et al. Among authors: ballana e. Hum Mutat. 2006 Nov;27(11):1135-42. doi: 10.1002/humu.20390. Hum Mutat. 2006. PMID: 16941638 Free PMC article.

6

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F. Del Castillo I, et al. Among authors: ballana e. Am J Hum Genet. 2003 Dec;73(6):1452-8. doi: 10.1086/380205. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14571368 Free PMC article.

7

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).

Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A. Donaudy F, et al. Among authors: ballana e. Am J Hum Genet. 2004 Apr;74(4):770-6. doi: 10.1086/383285. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015131 Free PMC article.

8

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.

Ballana E, Morales E, Rabionet R, Montserrat B, Ventayol M, Bravo O, Gasparini P, Estivill X. Ballana E, et al. Biochem Biophys Res Commun. 2006 Mar 24;341(4):950-7. doi: 10.1016/j.bbrc.2006.01.049. Epub 2006 Jan 24. Biochem Biophys Res Commun. 2006. PMID: 16458854

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. Hum Mutat. 2008 Feb;29(2):248-57. doi: 10.1002/humu.20639. Hum Mutat. 2008. PMID: 17999439

10

Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.

Bosch N, Cáceres M, Cardone MF, Carreras A, Ballana E, Rocchi M, Armengol L, Estivill X. Bosch N, et al. Among authors: ballana e. Hum Mol Genet. 2007 Nov 1;16(21):2572-82. doi: 10.1093/hmg/ddm209. Epub 2007 Aug 7. Hum Mol Genet. 2007. PMID: 17684299

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

101 results

Search Page

Filters