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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. Among authors: lezirovitz k. 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
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.
Santos SC, Pardono E, Ferreira da Costa MI, de Melo AN, Graciani Z, de Albuquerque e Souza AC, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA. Santos SC, et al. Among authors: lezirovitz k. Am J Med Genet A. 2008 Dec 15;146A(24):3126-31. doi: 10.1002/ajmg.a.32580. Am J Med Genet A. 2008. PMID: 19012338
A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21.
Lezirovitz K, Braga MC, Thiele-Aguiar RS, Auricchio MT, Pearson PL, Otto PA, Mingroni-Netto RC. Lezirovitz K, et al. Clin Genet. 2009 May;75(5):490-3. doi: 10.1111/j.1399-0004.2008.01130.x. Epub 2009 Jan 21. Clin Genet. 2009. PMID: 19159392 No abstract available.
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: lezirovitz k. 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
44 results