List of works - Karina Lezirovitz

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

scientific article published on 15 January 2013

A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21.

scientific article published on 21 January 2009

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

scientific article published on 21 May 2008

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

scientific article

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

scientific article published on 7 June 2018

Cochlea cell-specific marker expression upon in vitro Hes1 knockdown

scientific article published in 2021

Correction to: Genetic etiology of non-syndromic hearing loss in Latin America

scientific article published in 2022

Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".

scientific article published on 20 March 2006

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

scientific article published on 6 December 2011

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

scientific article published in November 2017

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

scientific article

Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss

scientific article published in 2021

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

scientific article published on 04 December 2018

Genetic etiology of non-syndromic hearing loss in Latin America

scientific article published in 2021

Hearing aid effectiveness on patients with chronic tinnitus and associated hearing loss

scientific article published in 2022

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

scientific article

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss

scientific article published in 2021

New Insights on the Effect of TNF Alpha Blockade by Gene Silencing in Noise-Induced Hearing Loss

scientific article published on 13 April 2020

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

scientific article

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

scientific article published on 30 April 2015

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

scientific article published on 01 December 2018

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.

scientific article published in February 2009

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

scientific article published on 08 May 2008

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

scientific article published on November 18, 2010

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

scientific article published in May 2005

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

scientific article published on 04 March 2009

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

scientific article published in September 2008

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing

scientific article published on 16 October 2018

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

scientific article

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

scientific article published on October 2014

List of works by Karina Lezirovitz

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

A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21.

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

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

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

Cochlea cell-specific marker expression upon in vitro Hes1 knockdown

Correction to: Genetic etiology of non-syndromic hearing loss in Latin America

Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".

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

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

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

Frequency and origin of the c.2090T&gt;G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss

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

Genetic etiology of non-syndromic hearing loss in Latin America

Hearing aid effectiveness on patients with chronic tinnitus and associated hearing loss

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

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss

New Insights on the Effect of TNF Alpha Blockade by Gene Silencing in Noise-Induced Hearing Loss

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

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

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

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.

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

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

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

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

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

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing

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

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

Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss