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Items: 31

1.

Polyethylene Glycol fusion associated with anti-oxidants: A new promise in the treatment of traumatic paralysis.

Salomone R, Jácomo AL, Bento RF, do Nascimento SB, Lezirovitz K, Hojaij FC, Costa HJZR.

Head Neck. 2018 Dec;40(12):2759. doi: 10.1002/hed.25626. No abstract available.

PMID:
30593717
2.

Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.

Dias AMM, Lezirovitz K, Nicastro FS, Mendes BCA, Mingroni-Netto RC.

J Hum Genet. 2019 Mar;64(3):257-260. doi: 10.1038/s10038-018-0546-4. Epub 2018 Dec 4.

PMID:
30514912
3.

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.

Soares de Lima Y, Chiabai M, Shen J, Córdoba MS, Versiani BR, Benício ROA, Pogue R, Mingroni-Netto RC, Lezirovitz K, Pic-Taylor A, Mazzeu JF, Oliveira SF.

Hear Res. 2018 Dec;370:181-188. doi: 10.1016/j.heares.2018.10.008. Epub 2018 Oct 16.

PMID:
30390570
4.

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.

Dantas VGL, Raval MH, Ballesteros A, Cui R, Gunther LK, Yamamoto GL, Alves LU, Bueno AS, Lezirovitz K, Pirana S, Mendes BCA, Yengo CM, Kachar B, Mingroni-Netto RC.

Sci Rep. 2018 Jun 7;8(1):8706. doi: 10.1038/s41598-018-26818-2.

5.

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

Nonose RW, Lezirovitz K, de Mello Auricchio MTB, Batissoco AC, Yamamoto GL, Mingroni-Netto RC.

BMC Med Genet. 2018 May 8;19(1):73. doi: 10.1186/s12881-018-0585-x.

6.

Polyethylene glycol fusion associated with antioxidants: A new promise in the treatment of traumatic facial paralysis.

Salomone R, Jácomo AL, Nascimento SBD, Lezirovitz K, Hojaij FC, Costa HJZR, Bento RF.

Head Neck. 2018 Jul;40(7):1489-1497. doi: 10.1002/hed.25122. Epub 2018 Mar 9. Erratum in: Head Neck. 2018 Dec;40(12):2759.

PMID:
29522265
7.

Evidence of progenitor cells in the adult human cochlea: sphere formation and identification of ABCG2.

Massucci-Bissoli M, Lezirovitz K, Oiticica J, Bento RF.

Clinics (Sao Paulo). 2017 Nov;72(11):714-717. doi: 10.6061/clinics/2017(11)11.

8.

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

Sampaio-Silva J, Batissoco AC, Jesus-Santos R, Abath-Neto O, Scarpelli LC, Nishimura PY, Galindo LT, Bento RF, Oiticica J, Lezirovitz K.

Ann Hum Genet. 2018 Jan;82(1):23-34. doi: 10.1111/ahg.12213. Epub 2017 Oct 17.

PMID:
29044474
9.

Transplantation and survival of mouse inner ear progenitor/stem cells in the organ of Corti after cochleostomy of hearing-impaired guinea pigs: preliminary results.

Barboza LC Jr, Lezirovitz K, Zanatta DB, Strauss BE, Mingroni-Netto RC, Oiticica J, Haddad LA, Bento RF.

Braz J Med Biol Res. 2016;49(4):e5064. doi: 10.1590/1414-431X20155064. Epub 2016 Mar 18.

10.

fosI Is a New Integron-Associated Gene Cassette Encoding Reduced Susceptibility to Fosfomycin.

Pelegrino Kde O, Campos JC, Sampaio SC, Lezirovitz K, Seco BM, Pereira Mde O, Rocha DA, Jové T, Nicodemo AC, Sampaio JL.

Antimicrob Agents Chemother. 2015 Nov 9;60(1):686-8. doi: 10.1128/AAC.02437-15. Print 2016 Jan.

11.

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

Dantas VG, Freitas EL, Della-Rosa VA, Lezirovitz K, de Moraes AM, Ramos SB, Oiticica J, Alves LU, Pearson PL, Rosenberg C, Mingroni-Netto RC.

Int J Audiol. 2015;54(9):593-8. doi: 10.3109/14992027.2015.1030511. Epub 2015 Apr 30.

PMID:
25926005
12.

c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.

Dantas VG, Lezirovitz K, Yamamoto GL, Moura de Souza CF, Ferreira SG, Mingroni-Netto RC.

Genet Mol Biol. 2014 Oct;37(4):616-21. doi: 10.1590/S1415-47572014005000025. Epub 2014 Nov 14.

13.

7q36 deletion and 9p22 duplication: effects of a double imbalance.

Pelegrino Kde O, Sugayama S, Catelani AL, Lezirovitz K, Kok F, Chauffaille Mde L.

Mol Cytogenet. 2013 Jan 15;6(1):2. doi: 10.1186/1755-8166-6-2.

14.

Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family.

Lezirovitz K, Batissoco AC, Lima FT, Auricchio MT, Nonose RW, dos Santos SR, Guilherme L, Oiticica J, Mingroni-Netto RC.

Gene. 2012 Dec 15;511(2):280-4. doi: 10.1016/j.gene.2012.09.023. Epub 2012 Sep 17.

PMID:
22995349
15.

MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization.

Pelegrino Kde O, Sugayama S, Lezirovitz K, Catelani AL, Kok F, Chauffaille Mde L.

Clinics (Sao Paulo). 2012 Aug;67(8):981-5. No abstract available.

16.

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S.

J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6.

PMID:
22147889
17.

Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome.

Teixeira LV, Lezirovitz K, Pereira LV, Perez AB.

Braz J Med Biol Res. 2011 Aug;44(8):793-800. Epub 2011 Jul 29. Erratum in: Braz J Med Biol Res. 2011 Oct;44(10):1069. Mandelbaum, K L [corrected to Lezirovitz, K].

18.

Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea.

Oiticica J, Barboza-Junior LC, Batissoco AC, Lezirovitz K, Mingroni-Netto RC, Haddad LA, Bento RF.

J Transl Med. 2010 Nov 18;8:119. doi: 10.1186/1479-5876-8-119.

19.

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.

J Hum Genet. 2009 Jul;54(7):382-5. doi: 10.1038/jhg.2009.45. Epub 2009 May 22.

PMID:
19461658
20.

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.

Ann Hum Genet. 2009 May;73(Pt 3):382-7. doi: 10.1111/j.1469-1809.2009.00507.x. Epub 2009 Mar 4.

21.

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.

Clin Genet. 2009 May;75(5):490-3. doi: 10.1111/j.1399-0004.2008.01130.x. Epub 2009 Jan 21. No abstract available.

PMID:
19159392
22.

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.

Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad.

PMID:
19125024
23.

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.

Braz J Otorhinolaryngol. 2008 Sep-Oct;74(5):786-789. doi: 10.1016/S1808-8694(15)31392-6.

24.

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.

Am J Med Genet A. 2008 Dec 15;146A(24):3126-31. doi: 10.1002/ajmg.a.32580.

PMID:
19012338
25.

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.

Hum Genet. 2008 Jul;123(6):625-31. doi: 10.1007/s00439-008-0515-7. Epub 2008 May 21.

PMID:
18493797
26.

Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.

Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Nascimento RM, Bueno C, Martyn M, Leão EK, Zatz M.

Neurogenetics. 2008 Jul;9(3):225-6. doi: 10.1007/s10048-008-0130-8. Epub 2008 May 8. No abstract available.

PMID:
18463901
27.

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.

Eur J Hum Genet. 2008 Jan;16(1):89-96. Epub 2007 Sep 12. Erratum in: Eur J Hum Genet. 2008 May;16(5):660.

28.

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.

J Hum Genet. 2006;51(8):716-20. Epub 2006 Jul 26.

PMID:
16868655
29.

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.

Biochem Biophys Res Commun. 2006 May 12;343(3):675-6. Epub 2006 Mar 20.

PMID:
16574076
30.

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.

Braz J Med Biol Res. 2006 Feb;39(2):219-26. Epub 2006 Feb 2.

31.

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.

Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M.

Ann Neurol. 2005 May;57(5):730-7.

PMID:
15852396

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