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Items: 1 to 50 of 61

1.

Stem-cell therapy for hearing loss: are we there yet?

Dufner-Almeida LG, Cruz DBD, Mingroni Netto RC, Batissoco AC, Oiticica J, Salazar-Silva R.

Braz J Otorhinolaryngol. 2019 Jul - Aug;85(4):520-529. doi: 10.1016/j.bjorl.2019.04.006. Epub 2019 May 18. Review.

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.

Stem Cells from Human Exfoliated Deciduous Teeth (SHED) Differentiate in vivo and Promote Facial Nerve Regeneration.

Pereira LV, Bento RF, Cruz DB, Marchi C, Salomone R, Oiticicca J, Costa MP, Haddad LA, Mingroni-Netto RC, Costa HJZR.

Cell Transplant. 2019 Jan;28(1):55-64. doi: 10.1177/0963689718809090. Epub 2018 Oct 31.

5.

A Cell Junctional Protein Network Associated with Connexin-26.

Batissoco AC, Salazar-Silva R, Oiticica J, Bento RF, Mingroni-Netto RC, Haddad LA.

Int J Mol Sci. 2018 Aug 27;19(9). pii: E2535. doi: 10.3390/ijms19092535.

6.

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.

7.

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.

8.

Inbreeding estimates in human populations: Applying new approaches to an admixed Brazilian isolate.

Lemes RB, Nunes K, Carnavalli JEP, Kimura L, Mingroni-Netto RC, Meyer D, Otto PA.

PLoS One. 2018 Apr 24;13(4):e0196360. doi: 10.1371/journal.pone.0196360. eCollection 2018.

9.

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni-Netto RC.

Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31.

10.

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT.

Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7.

11.

Santos syndrome is caused by mutation in the WNT7A gene.

Alves LU, Santos S, Musso CM, Ezquina SA, Opitz JM, Kok F, Otto PA, Mingroni-Netto RC.

J Hum Genet. 2017 Dec;62(12):1073-1078. doi: 10.1038/jhg.2017.86. Epub 2017 Aug 31.

PMID:
28855715
12.

Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes.

Kimura L, Nunes K, Macedo-Souza LI, Rocha J, Meyer D, Mingroni-Netto RC.

Am J Hum Biol. 2017 Mar;29(2). doi: 10.1002/ajhb.22930. Epub 2016 Oct 20.

PMID:
27761960
13.

Population variation of HLA genes in rural communities in Brazil, the Quilombos from the Vale do Ribeira, São Paulo - Brazil.

Nunes K, Piovezan B, Torres MA, Pontes GN, Kimura L, Carnavalli JE, Mingroni Netto RC, Moraes ME, Meyer D.

Hum Immunol. 2016 Jun;77(6):447-8. doi: 10.1016/j.humimm.2016.04.007. Epub 2016 Apr 6.

PMID:
27060779
14.

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.

15.

Novel frameshift variant in gene SALL4 causing Okihiro syndrome.

Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC.

Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11.

16.

HLA imputation in an admixed population: An assessment of the 1000 Genomes data as a training set.

Nunes K, Zheng X, Torres M, Moraes ME, Piovezan BZ, Pontes GN, Kimura L, Carnavalli JEP, Mingroni Netto RC, Meyer D.

Hum Immunol. 2016 Mar;77(3):307-312. doi: 10.1016/j.humimm.2015.11.004. Epub 2015 Nov 12.

17.

Genomic copy number alterations in non-syndromic hearing loss.

Rosenberg C, Freitas ÉL, Uehara DT, Auricchio MTBM, Costa SS, Oiticica J, Silva AG, Krepischi AC, Mingroni-Netto RC.

Clin Genet. 2016 Apr;89(4):473-477. doi: 10.1111/cge.12683. Epub 2015 Nov 10.

PMID:
26456090
18.

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.

Alves LU, Pardono E, Otto PA, Mingroni Netto RC.

Genet Mol Biol. 2015 Mar;38(1):37-41. doi: 10.1590/S1415-475738120140125. Epub 2014 Mar 17.

19.

Estimation of inbreeding and substructure levels in African-derived Brazilian quilombo populations.

Lemes RB, Nunes K, Meyer D, Mingroni-Netto RC, Otto PA.

Hum Biol. 2014 Fall;86(4):276-88.

PMID:
25959694
20.

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
21.

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family.

Uehara DT, Freitas ÉL, Alves LU, Mazzeu JF, Auricchio MT, Tabith A Jr, Monteiro ML, Rosenberg C, Mingroni-Netto RC.

Hum Genome Var. 2015 Oct 29;2:15038. doi: 10.1038/hgv.2015.38. eCollection 2015.

22.

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.

23.

Strategies for genetic study of hearing loss in the Brazilian northeastern region.

Melo US, Santos S, Cavalcanti HG, Andrade WT, Dantas VG, Rosa MR, Mingroni-Netto RC.

Int J Mol Epidemiol Genet. 2014 Feb 17;5(1):11-21. eCollection 2014.

24.

Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.

Freitas ÉL, Oiticica J, Silva AG, Bittar RS, Rosenberg C, Mingroni-Netto RC.

Eur J Med Genet. 2014 Mar;57(4):125-8. doi: 10.1016/j.ejmg.2014.02.006. Epub 2014 Feb 18.

PMID:
24556497
25.

Multivariate meta-analysis of the association of G-protein beta 3 gene (GNB3) haplotypes with cardiovascular phenotypes.

Pereira TV, Kimura L, Suwazono Y, Nakagawa H, Daimon M, Oizumi T, Kayama T, Kato T, Li L, Chen S, Gu D, Renner W, März W, Yamada Y, Bagos PG, Mingroni-Netto RC.

Mol Biol Rep. 2014 May;41(5):3113-25. doi: 10.1007/s11033-014-3171-0. Epub 2014 Jan 30.

PMID:
24477587
26.

Genomic ancestry of rural African-derived populations from Southeastern Brazil.

Kimura L, Ribeiro-Rodrigues EM, De Mello Auricchio MT, Vicente JP, Batista Santos SE, Mingroni-Netto RC.

Am J Hum Biol. 2013 Jan-Feb;25(1):35-41. doi: 10.1002/ajhb.22335. Epub 2012 Nov 2.

PMID:
23124977
27.

Multilocus family-based association analysis of seven candidate polymorphisms with essential hypertension in an african-derived semi-isolated brazilian population.

Kimura L, Angeli CB, Auricchio MT, Fernandes GR, Pereira AC, Vicente JP, Pereira TV, Mingroni-Netto RC.

Int J Hypertens. 2012;2012:859219. doi: 10.1155/2012/859219. Epub 2012 Sep 26.

28.

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
29.

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
30.
31.

ADRB2 and LEPR gene polymorphisms: synergistic effects on the risk of obesity in Japanese.

Pereira TV, Mingroni-Netto RC, Yamada Y.

Obesity (Silver Spring). 2011 Jul;19(7):1523-7. doi: 10.1038/oby.2010.322. Epub 2011 Jan 13.

32.

Multilocus analyses of seven candidate genes suggest interacting pathways for obesity-related traits in Brazilian populations.

Angeli CB, Kimura L, Auricchio MT, Vicente JP, Mattevi VS, Zembrzuski VM, Hutz MH, Pereira AC, Pereira TV, Mingroni-Netto RC.

Obesity (Silver Spring). 2011 Jun;19(6):1244-51. doi: 10.1038/oby.2010.325. Epub 2011 Jan 13.

33.

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.

34.

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.

Ann Hum Biol. 2011 Mar;38(2):210-8. doi: 10.3109/03014460.2010.513774. Epub 2010 Sep 3.

PMID:
20812880
35.

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.

Genet Test Mol Biomarkers. 2010 Oct;14(5):611-6. doi: 10.1089/gtmb.2010.0011. Epub 2010 Aug 19.

PMID:
20722495
36.

Chromosome imbalances in syndromic hearing loss.

Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C.

Clin Genet. 2009 Nov;76(5):458-64. doi: 10.1111/j.1399-0004.2009.01276.x. Epub 2009 Oct 6.

PMID:
19807740
37.

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
38.

A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family.

Batissoco AC, Auricchio MT, Kimura L, Tabith-Junior A, Mingroni-Netto RC.

Braz J Med Biol Res. 2009 Feb;42(2):168-71.

39.

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
40.

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
41.

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
42.

Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry.

Yeh E, Kimura L, Errera FI, Angeli CB, Mingroni-Netto RC, Silva ME, Canani LH, Passos-Bueno MR.

Braz J Med Biol Res. 2008 Jun;41(6):468-72.

43.

Frequency and origins of hemoglobin S mutation in African-derived Brazilian populations.

De Mello Auricchio MT, Vicente JP, Meyer D, Mingroni-Netto RC.

Hum Biol. 2007 Dec;79(6):667-77.

PMID:
18494376
44.

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
45.

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.

46.

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C.

Cytogenet Genome Res. 2006;115(3-4):254-61.

PMID:
17124408
47.

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
48.

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women.

Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonça BB, Szuhai K, Otto PA.

Am J Med Genet A. 2006 Jun 15;140(12):1339-42. No abstract available.

PMID:
16691591
49.

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
50.

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.

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