| Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion E Klopocki, S Lohan, SC Doelken, S Stricker, CW Ockeloen, ... Journal of medical genetics 49 (2), 119-125, 2012 | 105 | 2012 |
| 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 AC Batissoco, RS Abreu-Silva, MCC Braga, K Lezirovitz, V Della-Rosa, ... Ear and hearing 30 (1), 1-7, 2009 | 101 | 2009 |
| Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13 LI Macedo‐Souza, F Kok, S Santos, SC Amorim, A Starling, A Nishimura, ... Annals of Neurology: Official Journal of the American Neurological …, 2005 | 77 | 2005 |
| Novel OTOF mutations in Brazilian patients with auditory neuropathy J Romanos, L Kimura, ML Fávero, FAR Izarra, MTB de Mello Auricchio, ... Journal of human genetics 54 (7), 382-385, 2009 | 68 | 2009 |
| Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness K Lezirovitz, E Pardono, MTB de Mello Auricchio, FL de Carvalho e Silva, ... European Journal of Human Genetics 16 (1), 89-96, 2008 | 67 | 2008 |
| Prevalence of the A1555G (12S rRNA) and tRNA Ser (UCN) mitochondrial mutations in hearing-impaired Brazilian patients RS Abreu-Silva, K Lezirovitz, MCC Braga, M Spinelli, S Pirana, ... Brazilian journal of medical and biological research 39, 219-226, 2006 | 51 | 2006 |
| A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13. 1–17p13. 3 K Lezirovitz, SRP Maestrelli, NH Cotrim, PA Otto, PL Pearson, ... Human genetics 123, 625-631, 2008 | 46 | 2008 |
| Epidemiological and clinical characteristics of patients with coronavirus disease-2019 in Shiyan City, China L Liu, X Lei, X Xiao, J Yang, J Li, M Ji, W Du, H Tan, J Zhu, B Li, Z Jin, ... Frontiers in cellular and infection microbiology 10, 284, 2020 | 42 | 2020 |
| Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes LI Macedo‐Souza, F Kok, S Santos, L Licinio, K Lezirovitz, N Cavaçana, ... Annals of human genetics 73 (3), 382-387, 2009 | 38 | 2009 |
| Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25 LI Macedo-Souza, F Kok, S Santos, L Licinio, K Lezirovitz, ... Neurogenetics 9, 225-226, 2008 | 35 | 2008 |
| Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss VGL Dantas, MH Raval, A Ballesteros, R Cui, LK Gunther, GL Yamamoto, ... Scientific reports 8 (1), 8706, 2018 | 27 | 2018 |
| Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”? K Lezirovitz, FS Nicastro, E Pardono, RS Abreu-Silva, AC Batissoco, ... Journal of human genetics 51 (8), 716-720, 2006 | 24 | 2006 |
| Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea J Oiticica, LCM Barboza-Junior, AC Batissoco, K Lezirovitz, ... Journal of Translational Medicine 8, 1-10, 2010 | 20 | 2010 |
| Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects RW Nonose, K Lezirovitz, MTB de Mello Auricchio, AC Batissoco, ... BMC medical genetics 19, 1-10, 2018 | 18 | 2018 |
| A novel autosomal dominant deafness locus (DFNA58) maps to 2p12‐p21 K Lezirovitz, MCC Braga, RS Thiele‐Aguiar, MTBM Auricchio, PL Pearson, ... Clinical genetics 75 (5), 490-493, 2009 | 17 | 2009 |
| Polyethylene glycol fusion associated with antioxidants: A new promise in the treatment of traumatic facial paralysis R Salomone, AL Jácomo, SB Nascimento, K Lezirovitz, FC Hojaij, ... Head & Neck 40 (7), 1489-1497, 2018 | 16 | 2018 |
| Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans AMM Dias, K Lezirovitz, FS Nicastro, BCA Mendes, RC Mingroni-Netto Journal of human genetics 64 (3), 257-260, 2019 | 13 | 2019 |
| Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family VGL Dantas, EL Freitas, VA Della-Rosa, K Lezirovitz, AMSM de Moraes, ... International journal of audiology 54 (9), 593-598, 2015 | 13 | 2015 |
| Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family K Lezirovitz, AC Batissoco, FT Lima, MTBM Auricchio, RW Nonose, ... Gene 511 (2), 280-284, 2012 | 13 | 2012 |
| MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization KO Pelegrino, S Sugayama, K Lezirovitz, AL Catelani, F Kok, ... Clinics 67, 981-985, 2012 | 13 | 2012 |
Regina Celia Mingroni NettoProfessor Associado Instituto de Biociências da Universidade de São PauloVerified email at ib.usp.br
