Lezirovitz K - Search Results

1

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.

Bertani-Torres W, Lezirovitz K, Alencar-Coutinho D, Pardono E, da Costa SS, Antunes LDN, de Oliveira J, Otto PA, Pingault V, Mingroni-Netto RC. Bertani-Torres W, et al. Among authors: lezirovitz k. Audiol Res. 2023 Dec 21;14(1):9-25. doi: 10.3390/audiolres14010002. Audiol Res. 2023. PMID: 38391765 Free PMC article.

2

Study of a Brazilian family presenting non-syndromic hearing loss with mitochondrial inheritance.

Pupo AC, Pirana S, Spinelli M, Lezirovitz K, Netto RCM, Macedo LS. Pupo AC, et al. Among authors: lezirovitz k. Braz J Otorhinolaryngol. 2008 Sep-Oct;74(5):786-789. doi: 10.1016/S1808-8694(15)31392-6. Braz J Otorhinolaryngol. 2008. PMID: 19082364 Free PMC article.

3

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. Among authors: lezirovitz k. 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.

4

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

5

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. 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

6

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. 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

7

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.

Lezirovitz K, Maestrelli SR, Cotrim NH, Otto PA, Pearson PL, Mingroni-Netto RC. Lezirovitz K, et al. Hum Genet. 2008 Jul;123(6):625-31. doi: 10.1007/s00439-008-0515-7. Epub 2008 May 21. Hum Genet. 2008. PMID: 18493797

8

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

9

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.

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC. Batissoco AC, et al. Among authors: lezirovitz k. Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. Ear Hear. 2009. PMID: 19125024

10

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.

Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M. Macedo-Souza LI, et al. Among authors: lezirovitz k. Ann Hum Genet. 2009 May;73(Pt 3):382-7. doi: 10.1111/j.1469-1809.2009.00507.x. Epub 2009 Mar 4. Ann Hum Genet. 2009. PMID: 19344448

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