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Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad.
Ear Hear. 2009.
PMID: 19125024
Novel OTOF mutations in Brazilian patients with auditory neuropathy.
Romanos J, Kimura L, Fávero ML, Izarra FA, de Mello Auricchio MT, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC.
Romanos J, et al. Among authors: abreu silva rs.
J Hum Genet. 2009 Jul;54(7):382-5. doi: 10.1038/jhg.2009.45. Epub 2009 May 22.
J Hum Genet. 2009.
PMID: 19461658
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The search of a genetic basis for noise-induced hearing loss (NIHL).
Abreu-Silva RS, Rincon D, Horimoto AR, Sguillar AP, Ricardo LA, Kimura L, Batissoco AC, Auricchio MT, Otto PA, Mingroni-Netto RC.
Abreu-Silva RS, et al.
Ann Hum Biol. 2011 Mar;38(2):210-8. doi: 10.3109/03014460.2010.513774. Epub 2010 Sep 3.
Ann Hum Biol. 2011.
PMID: 20812880
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Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients.
Abreu-Silva RS, Lezirovitz K, Braga MC, Spinelli M, Pirana S, Della-Rosa VA, Otto PA, Mingroni-Netto RC.
Abreu-Silva RS, et al.
Braz J Med Biol Res. 2006 Feb;39(2):219-26. doi: 10.1590/s0100-879x2006000200008. Epub 2006 Feb 2.
Braz J Med Biol Res. 2006.
PMID: 16470309
Free article.
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Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.
Lezirovitz K, Pardono E, de Mello Auricchio MT, de Carvalho E Silva FL, Lopes JJ, Abreu-Silva RS, Romanos J, Batissoco AC, Mingroni-Netto RC.
Lezirovitz K, et al. Among authors: abreu silva rs.
Eur J Hum Genet. 2008 Jan;16(1):89-96. doi: 10.1038/sj.ejhg.5201917. Epub 2007 Sep 12.
Eur J Hum Genet. 2008.
PMID: 17851452
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Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?
Lezirovitz K, Nicastro FS, Pardono E, Abreu-Silva RS, Batissoco AC, Neustein I, Spinelli M, Mingroni-Netto RC.
Lezirovitz K, et al. Among authors: abreu silva rs.
J Hum Genet. 2006;51(8):716-720. doi: 10.1007/s10038-006-0003-7. Epub 2006 Jul 26.
J Hum Genet. 2006.
PMID: 16868655
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Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
Uehara DT, Rincon D, Abreu-Silva RS, Auricchio MT, Tabith A, Kok F, Mingroni-Netto RC.
Uehara DT, et al. Among authors: abreu silva rs.
Genet Test Mol Biomarkers. 2010 Oct;14(5):611-6. doi: 10.1089/gtmb.2010.0011. Epub 2010 Aug 19.
Genet Test Mol Biomarkers. 2010.
PMID: 20722495
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Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".
Abreu-Silva RS, Batissoco AC, Lezirovitz K, Romanos J, Rincon D, Auricchio MT, Otto PA, Mingroni-Netto RC.
Abreu-Silva RS, et al.
Biochem Biophys Res Commun. 2006 May 12;343(3):675-6. doi: 10.1016/j.bbrc.2006.03.049. Epub 2006 Mar 20.
Biochem Biophys Res Commun. 2006.
PMID: 16574076
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