Search Results - "LEZIROVITZ, Karina"

Correction to: Genetic etiology of non-syndromic hearing loss in Latin America by Lezirovitz, Karina, Mingroni-Netto, Regina Célia

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Genetic etiology of non-syndromic hearing loss in Latin America by Lezirovitz, Karina, Mingroni-Netto, Regina Célia

“…Latin America comprises all countries from South and Central America, in addition to Mexico. It is characterized by a complex mosaic of regions with…”
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Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss by Batissoco, Ana Carla, Pedroso-Campos, Vinicius, Pardono, Eliete, Sampaio-Silva, Juliana, Sonoda, Cindy Yukimi, Vieira-Silva, Gleiciele Alice, da Silva de Oliveira Longati, Estefany Uchoa, Mariano, Diego, Hoshino, Ana Cristina Hiromi, Tsuji, Robinson Koji, Jesus-Santos, Rafaela, Abath-Neto, Osório, Bento, Ricardo Ferreira, Oiticica, Jeanne, Lezirovitz, Karina

“…Hearing loss is one of the most common sensory defects, affecting 5.5% of the worldwide population and significantly impacting health and social life. It is…”
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Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families by Antunes, Larissa Nascimento, Dias, Alex Marcel Moreira, Schiavo, Beatriz Cetalle, Mendes, Beatriz C. A., Bertola, Debora Romeo, Lezirovitz, Karina, Mingroni-Netto, Regina Célia

“…Introduction Hearing loss is a frequent sensory impairment type in humans, with about 50% of prelingual cases being attributed to genetic factors. Autosomal…”
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Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss by Bueno, André S, Nunes, Kelly, Dias, Alex M M, Alves, Leandro U, Mendes, Beatriz C A, Sampaio-Silva, Juliana, Smits, Jeroen, Yntema, Helger G, Meyer, Diogo, Lezirovitz, Karina, Mingroni-Netto, Regina C

“…We recently described a novel missense variant [c.2090T>G:p.(Leu697Trp)] in the MYO3A gene, found in two Brazilian families with late-onset autosomal dominant…”
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New Insights on the Effect of TNF Alpha Blockade by Gene Silencing in Noise-Induced Hearing Loss by Rodrigues, Janaína C, Bachi, André L L, Silva, Gleiciele A V, Rossi, Marcelo, do Amaral, Jonatas B, Lezirovitz, Karina, de Brito, Rubens

“…Noise exposure represents the second most common cause of acquired sensorineural hearing loss and we observed that tumor necrosis factor α (TNFα) was involved…”
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Evidence of progenitor cells in the adult human cochlea: sphere formation and identification of ABCG2 by Massucci-Bissoli, Milene, Lezirovitz, Karina, Oiticica, Jeanne, Bento, Ricardo Ferreira

“…The aim of this study was to search for evidence of stem or progenitor cells in the adult human cochlea by testing for sphere formation capacity and the…”
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Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A) by Kobayashi, Gerson S., Vieira-Silva, Gleiciele A., Varella-Branco, Elisa, Moreira, Danielle P., Kitajima, João Paulo F.W., Hemza, Claudia R.M.L., Mingroni-Netto, Regina C., Lojudice, Fernando H., Oiticica, Jeanne, Bento, Ricardo F., Batissoco, Ana C., Lezirovitz, Karina

“…The DFNA58 locus contains a genomic duplication involving three protein-coding genes (CNRIP1, PLEK, and PPP3R1′s exon 1) and other uncharacterized lncRNA genes…”
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Hearing aid effectiveness on patients with chronic tinnitus and associated hearing loss by Simonetti, Patricia, Vasconcelos, Laura Garcia, Gândara, Mara Rocha, Lezirovitz, Karina, Medeiros, Ítalo Roberto Torres de, Oiticica, Jeanne

“…•Amplification restores auditory input and reduce tinnitus annoyance.•THI reduction has been considered to be clinically and statistically significant after…”
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Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants by Bertani-Torres, William, Lezirovitz, Karina, Alencar-Coutinho, Danillo, Pardono, Eliete, da Costa, Silvia Souza, Antunes, Larissa do Nascimento, de Oliveira, Judite, Otto, Paulo Alberto, Pingault, Véronique, Mingroni-Netto, Regina Célia

“…Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically…”
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Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects by Nonose, Renata Watanabe, Lezirovitz, Karina, de Mello Auricchio, Maria Teresa Balester, Batissoco, Ana Carla, Yamamoto, Guilherme Lopes, Mingroni-Netto, Regina Célia

“…Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar…”
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Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans by Dias, Alex Marcel Moreira, Lezirovitz, Karina, Nicastro, Fernanda Stávale, Mendes, Beatriz C A, Mingroni-Netto, Regina Célia

“…Mutations in the CEACAM6 gene were first described as causing autosomal dominant nonsyndromic hearing loss, but two splice-altering variants have been recently…”
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Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing by Soares de Lima, Yasmin, Chiabai, Marcela, Shen, Jun, Córdoba, Mara S., Versiani, Beatriz R., Benício, Rosenelle O.A., Pogue, Robert, Mingroni-Netto, Regina Célia, Lezirovitz, Karina, Pic-Taylor, Aline, Mazzeu, Juliana F., Oliveira, Silviene F.

“…Syndromic hearing loss accounts for approximately 30% of all cases of hearing loss due to genetic causes. Mutation screening in known genes is important…”
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Novel OTOF mutations in Brazilian patients with auditory neuropathy by Romanos, Jihane, Kimura, Lilian, Fávero, Mariana Lopes, Izarra, Fernanda Attanasio R, de Mello Auricchio, Maria Teresa Balester, Batissoco, Ana Carla, Lezirovitz, Karina, Abreu-Silva, Ronaldo Serafim, Mingroni-Netto, Regina Célia

“…The OTOF gene encoding otoferlin is associated with auditory neuropathy (AN), a type of non-syndromic deafness. We investigated the contribution of OTOF…”
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Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea by Oiticica, Jeanne, Barboza-Junior, Luiz Carlos M, Batissoco, Ana Carla, Lezirovitz, Karina, Mingroni-Netto, Regina C, Haddad, Luciana A, Bento, Ricardo F

“…Culturing otospheres from dissociated organ of Corti is an appropriate starting point aiming at the development of cell therapy for hair cell loss. Although…”
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c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family by Dantas, Vitor G L, Lezirovitz, Karina, Yamamoto, Guilherme L, Moura de Souza, Carolina Fischinger, Ferreira, Simone Gomes, Mingroni-Netto, Regina C

“…We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency…”
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Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13 by Macedo-Souza, Lucia I., Kok, Fernando, Santos, Silvana, Amorim, Simone C., Starling, Alessandra, Nishimura, Agnes, Lezirovitz, Karina, Lino, Angelina M. M., Zatz, Mayana

“…We report an autosomal recessive neurodegenerative disorder in 25 white members from a large inbred Brazilian family, 22 of whom were evaluated clinically…”
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MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization by de Oliveira Pelegrino, Karla, Sugayama, Sofia, Lezirovitz, Karina, Catelani, Ana Lúcia, Kok, Fernando, de Lourdes Chauffaille, Maria

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7q36 deletion and 9p22 duplication: effects of a double imbalance by Pelegrino, Karla de Oliveira, Sugayama, Sofia, Catelani, Ana Lúcia, Lezirovitz, Karina, Kok, Fernando, Chauffaille, Maria de Lourdes

“…The etiology of mental retardation/developmental delay (MRDD) remains a challenge to geneticists and clinicians and can be correlated to environmental and…”
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Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? by Lezirovitz, Karina, Nicastro, Fernanda Stávale, Pardono, Eliete, Abreu-Silva, Ronaldo Serafim, Batissoco, Ana Carla, Neustein, Isaac, Spinelli, Mauro, Mingroni-Netto, Regina Célia

“…Hearing impairment is frequently found associated with pigmentary disorders in many syndromes. However, total oculocutaneous albinism (OCA) associated with…”
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