Ballana E - Search Results

1

SAMHD1 expression is a surrogate marker of immune infiltration and determines prognosis after neoadjuvant chemotherapy in early breast cancer.

Gutiérrez-Chamorro L, Felip E, Castellà E, Quiroga V, Ezeonwumelu IJ, Angelats L, Esteve A, Perez-Roca L, Martínez-Cardús A, Fernandez PL, Ferrando-Díez A, Pous A, Bergamino M, Cirauqui B, Romeo M, Teruel I, Mesia R, Clotet B, Riveira-Muñoz E, Margelí M, Ballana E. Gutiérrez-Chamorro L, et al. Among authors: ballana e. Cell Oncol (Dordr). 2024 Feb;47(1):189-208. doi: 10.1007/s13402-023-00862-1. Epub 2023 Sep 4. Cell Oncol (Dordr). 2024. PMID: 37667113 Free PMC article.

2

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.

3

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

4

Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.

Ballana E, González JR, Bosch N, Estivill X. Ballana E, et al. BMC Genomics. 2007 Jan 10;8:14. doi: 10.1186/1471-2164-8-14. BMC Genomics. 2007. PMID: 17214878 Free PMC article.

5

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.

6

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.

7

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

8

Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.

Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P. Donaudy F, et al. Among authors: ballana e. J Med Genet. 2006 Feb;43(2):157-61. doi: 10.1136/jmg.2005.032086. Epub 2005 Jun 1. J Med Genet. 2006. PMID: 15930085 Free PMC article.

9

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.

10

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

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