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Artigo de periodico
Genetic etiology of non-syndromic hearing loss in Latin America (2022)
Lezirovitz, Karina ; Mingroni-Netto, Regina Célia
Source: Human Genetics. Unidade: IB
Subjects: PERDA AUDITIVA, SURDEZ, MUTAÇÃO GENÉTICA
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ABNT
LEZIROVITZ, Karina e MINGRONI-NETTO, Regina Célia. Genetic etiology of non-syndromic hearing loss in Latin America. Human Genetics, v. 141, p. 539–581, 2022Tradução . . Disponível em: https://doi.org/10.1007/s00439-021-02354-4. Acesso em: 24 set. 2023.
APA
Lezirovitz, K., & Mingroni-Netto, R. C. (2022). Genetic etiology of non-syndromic hearing loss in Latin America. Human Genetics, 141, 539–581. doi:10.1007/s00439-021-02354-4
NLM
Lezirovitz K, Mingroni-Netto RC. Genetic etiology of non-syndromic hearing loss in Latin America [Internet]. Human Genetics. 2022 ; 141 539–581.[citado 2023 set. 24 ] Available from: https://doi.org/10.1007/s00439-021-02354-4
Vancouver
Lezirovitz K, Mingroni-Netto RC. Genetic etiology of non-syndromic hearing loss in Latin America [Internet]. Human Genetics. 2022 ; 141 539–581.[citado 2023 set. 24 ] Available from: https://doi.org/10.1007/s00439-021-02354-4
Artigo de periodico
Correction to: genetic etiology of non-syndromic hearing loss in Latin America (2022)
Lezirovitz, Karina ; Mingroni-Netto, Regina Célia
Source: Human Genetics. Unidade: IB
Subjects: PERDA AUDITIVA, SURDEZ, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LEZIROVITZ, Karina e MINGRONI-NETTO, Regina Célia. Correction to: genetic etiology of non-syndromic hearing loss in Latin America. Human Genetics, v. 141, p. 997, 2022Tradução . . Disponível em: https://doi.org/10.1007/s00439-021-02354-4. Acesso em: 24 set. 2023.
APA
Lezirovitz, K., & Mingroni-Netto, R. C. (2022). Correction to: genetic etiology of non-syndromic hearing loss in Latin America. Human Genetics, 141, 997. doi:10.1007/s00439-021-02354-4
NLM
Lezirovitz K, Mingroni-Netto RC. Correction to: genetic etiology of non-syndromic hearing loss in Latin America [Internet]. Human Genetics. 2022 ; 141 997.[citado 2023 set. 24 ] Available from: https://doi.org/10.1007/s00439-021-02354-4
Vancouver
Lezirovitz K, Mingroni-Netto RC. Correction to: genetic etiology of non-syndromic hearing loss in Latin America [Internet]. Human Genetics. 2022 ; 141 997.[citado 2023 set. 24 ] Available from: https://doi.org/10.1007/s00439-021-02354-4
Artigo de periodico
A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58 (2020)
Lezirovitz, Karina; Vieira-silva, Gleiciele A; Batissoco, Ana C; Levy, Debora; Kitajima, Joao P; Trouillet, Alix; Ouyang, Ellen; Zebarjadi, Navid; Sampaio-Silva, Juliana; Bento, Ricardo Ferreira
Source: Human molecular genetics. Unidade: FM
Subjects: GENES, PERDA AUDITIVA, SURDEZ, NEURÔNIOS
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ABNT
LEZIROVITZ, Karina et al. A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58. Human molecular genetics, v. 29, n. 9, p. 1520-1536, 2020Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/36913. Acesso em: 24 set. 2023.
APA
Lezirovitz, K., Vieira-silva, G. A., Batissoco, A. C., Levy, D., Kitajima, J. P., Trouillet, A., et al. (2020). A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58. Human molecular genetics, 29( 9), 1520-1536. doi:10.1093/hmg/ddaa075
NLM
Lezirovitz K, Vieira-silva GA, Batissoco AC, Levy D, Kitajima JP, Trouillet A, Ouyang E, Zebarjadi N, Sampaio-Silva J, Bento RF. A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58 [Internet]. Human molecular genetics. 2020 ; 29( 9): 1520-1536.[citado 2023 set. 24 ] Available from: https://observatorio.fm.usp.br/handle/OPI/36913
Vancouver
Lezirovitz K, Vieira-silva GA, Batissoco AC, Levy D, Kitajima JP, Trouillet A, Ouyang E, Zebarjadi N, Sampaio-Silva J, Bento RF. A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58 [Internet]. Human molecular genetics. 2020 ; 29( 9): 1520-1536.[citado 2023 set. 24 ] Available from: https://observatorio.fm.usp.br/handle/OPI/36913
Artigo de periodico
Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans (2019)
Dias, Alex Marcel Moreira; Lezirovitz, Karina ; Nicastro, Fernanda Stávale; Mendes, Beatriz C. A; Mingroni-Netto, Regina Célia
Source: Journal of Human Genetics. Unidade: IB
Subjects: PERDA AUDITIVA, SURDEZ, SEQUENCIAMENTO GENÉTICO, ACONSELHAMENTO GENÉTICO, MUTAÇÃO GENÉTICA
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ABNT
DIAS, Alex Marcel Moreira et al. Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans. Journal of Human Genetics, v. 64, p. 257–260, 2019Tradução . . Disponível em: https://doi.org/10.1038/s10038-018-0546-4. Acesso em: 24 set. 2023.
APA
Dias, A. M. M., Lezirovitz, K., Nicastro, F. S., Mendes, B. C. A., & Mingroni-Netto, R. C. (2019). Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans. Journal of Human Genetics, 64, 257–260. doi:10.1038/s10038-018-0546-4
NLM
Dias AMM, Lezirovitz K, Nicastro FS, Mendes BCA, Mingroni-Netto RC. Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans [Internet]. Journal of Human Genetics. 2019 ; 64 257–260.[citado 2023 set. 24 ] Available from: https://doi.org/10.1038/s10038-018-0546-4
Vancouver
Dias AMM, Lezirovitz K, Nicastro FS, Mendes BCA, Mingroni-Netto RC. Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans [Internet]. Journal of Human Genetics. 2019 ; 64 257–260.[citado 2023 set. 24 ] Available from: https://doi.org/10.1038/s10038-018-0546-4
Artigo de periodico
Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss (2018)
Dantas, Vitor G. L; Raval, Dantas1, Manmeet H; Ballesteros, Angela; Cui, Runjia; Gunther, Laura K; Yamamoto, Guilherme L; Alves, Leandro Ucela; Bueno, André Silva; Lezirovitz, Karina; Pirana, Sulene; Mendes, Beatriz C. A; Yengo, Christopher M; Kachar, Bechara; Mingroni-Netto, Regina C
Source: Scientific Reports. Unidade: IB
Subjects: PERDA AUDITIVA, MUTAÇÃO GENÉTICA, GENÉTICA MÉDICA, GENÉTICA MOLECULAR, GENOMAS
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ABNT
DANTAS, Vitor G. L et al. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss. Scientific Reports, v. 8, p. 1-15, 2018Tradução . . Disponível em: http://dx.doi.org/10.1038/s41598-018-26818-2. Acesso em: 24 set. 2023.
APA
Dantas, V. G. L., Raval, D. 1, Ballesteros, A., Cui, R., Gunther, L. K., Yamamoto, G. L., et al. (2018). Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss. Scientific Reports, 8, 1-15. doi:10.1038/s41598-018-26818-2
NLM
Dantas VGL, Raval D1, 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. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss [Internet]. Scientific Reports. 2018 ; 8 1-15.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1038/s41598-018-26818-2
Vancouver
Dantas VGL, Raval D1, 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. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss [Internet]. Scientific Reports. 2018 ; 8 1-15.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1038/s41598-018-26818-2
Artigo de periodico
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects (2018)
Nonose, Renata Watanabe; Lezirovitz, Karina; Auricchio, Maria Teresa Balester De Mello; Batissoco, Ana Carla; Yamamoto, Guilherme Lopes; Mingroni-Netto, Regina Célia
Source: BMC Medical Genetics. Unidade: IB
Subjects: SURDEZ, HEREDITARIEDADE, MUTAÇÃO GENÉTICA, PERDA AUDITIVA BILATERAL, PACIENTES
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ABNT
NONOSE, Renata Watanabe et al. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects. BMC Medical Genetics, v. 19, p. 1-10, 2018Tradução . . Disponível em: http://dx.doi.org/10.1186/s12881-018-0585-x. Acesso em: 24 set. 2023.
APA
Nonose, R. W., Lezirovitz, K., Auricchio, M. T. B. D. M., Batissoco, A. C., Yamamoto, G. L., & Mingroni-Netto, R. C. (2018). Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects. BMC Medical Genetics, 19, 1-10. doi:10.1186/s12881-018-0585-x
NLM
Nonose RW, Lezirovitz K, Auricchio MTBDM, Batissoco AC, Yamamoto GL, Mingroni-Netto RC. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects [Internet]. BMC Medical Genetics. 2018 ; 19 1-10.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1186/s12881-018-0585-x
Vancouver
Nonose RW, Lezirovitz K, Auricchio MTBDM, Batissoco AC, Yamamoto GL, Mingroni-Netto RC. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects [Internet]. BMC Medical Genetics. 2018 ; 19 1-10.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1186/s12881-018-0585-x
Artigo de periodico
Polyethylene glycol fusion associated with antioxidants: a new promise in the treatment of traumatic facial paralysis (2018)
Salomone, Raquel; Jacomo, Alfredo Luiz; Nascimento, Silvia Bona do; Lezirovitz, Karina; Hojaij, Flavio Carneiro; Costa, Heloisa Juliana Zabeu Rossi; Bento, Ricardo Ferreira
Source: Head and neck-journal for the sciences and specialties of the head and neck. Unidade: FM
Subjects: PROCEDIMENTOS CIRÚRGICOS OPERATÓRIOS, ELETROMIOGRAFIA, NERVO FACIAL, FACE
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ABNT
SALOMONE, Raquel et al. Polyethylene glycol fusion associated with antioxidants: a new promise in the treatment of traumatic facial paralysis. Head and neck-journal for the sciences and specialties of the head and neck, v. 40, n. 7, p. 1489-1497, 2018Tradução . . Disponível em: http://dx.doi.org/10.1002/hed.25122. Acesso em: 24 set. 2023.
APA
Salomone, R., Jacomo, A. L., Nascimento, S. B. do, Lezirovitz, K., Hojaij, F. C., Costa, H. J. Z. R., & Bento, R. F. (2018). Polyethylene glycol fusion associated with antioxidants: a new promise in the treatment of traumatic facial paralysis. Head and neck-journal for the sciences and specialties of the head and neck, 40( 7), 1489-1497. doi:10.1002/hed.25122
NLM
Salomone R, Jacomo AL, Nascimento SB do, Lezirovitz K, Hojaij FC, Costa HJZR, Bento RF. Polyethylene glycol fusion associated with antioxidants: a new promise in the treatment of traumatic facial paralysis [Internet]. Head and neck-journal for the sciences and specialties of the head and neck. 2018 ; 40( 7): 1489-1497.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1002/hed.25122
Vancouver
Salomone R, Jacomo AL, Nascimento SB do, Lezirovitz K, Hojaij FC, Costa HJZR, Bento RF. Polyethylene glycol fusion associated with antioxidants: a new promise in the treatment of traumatic facial paralysis [Internet]. Head and neck-journal for the sciences and specialties of the head and neck. 2018 ; 40( 7): 1489-1497.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1002/hed.25122
Artigo de periodico
Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing (2018)
Lima, Yasmin Soares de; Chiabai, Marcela; Shen, Jun; Cordoba, 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
Source: Hearing Research. Unidade: IB
Subjects: PERDA AUDITIVA, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA, GENÉTICA MOLECULAR
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ABNT
LIMA, Yasmin Soares de et al. Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing. Hearing Research, v. 370, p. 181-188, 2018Tradução . . Disponível em: http://dx.doi.org/10.1016/j.heares.2018.10.008. Acesso em: 24 set. 2023.
APA
Lima, Y. S. de, Chiabai, M., Shen, J., Cordoba, M. S., Versiani, B. R., Benício, R. O. A., et al. (2018). Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing. Hearing Research, 370, 181-188. doi:10.1016/j.heares.2018.10.008
NLM
Lima YS de, Chiabai M, Shen J, Cordoba MS, Versiani BR, Benício ROA, Pogue R, Mingroni-Netto RC, Lezirovitz K, Pic-Taylor A, Mazzeu JF, Oliveira SF. Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing [Internet]. Hearing Research. 2018 ; 370 181-188.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1016/j.heares.2018.10.008
Vancouver
Lima YS de, Chiabai M, Shen J, Cordoba MS, Versiani BR, Benício ROA, Pogue R, Mingroni-Netto RC, Lezirovitz K, Pic-Taylor A, Mazzeu JF, Oliveira SF. Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing [Internet]. Hearing Research. 2018 ; 370 181-188.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1016/j.heares.2018.10.008
Artigo de periodico
Evidence of progenitor cells in the adult human cochlea: sphere formation and identification of ABCG2 (2017)
Massucci-Bissoli, Milene; Lezirovitz, Karina; Oiticica, Jeanne; Bento, Ricardo Ferreira
Source: Clinics. Unidade: FM
Subjects: CÓCLEA, ORELHA INTERNA, HUMANOS, PROLIFERAÇÃO CELULAR, CÉLULAS-TRONCO, PERDA AUDITIVA, TRANSPORTE ATRAVÉS DA MEMBRANA
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ABNT
MASSUCCI-BISSOLI, Milene et al. Evidence of progenitor cells in the adult human cochlea: sphere formation and identification of ABCG2. Clinics, v. 72, n. 11, p. 714-717, 2017Tradução . . Disponível em: http://www.scielo.br/pdf/clin/v72n11/1807-5932-clin-72-11-714.pdf. Acesso em: 24 set. 2023.
APA
Massucci-Bissoli, M., Lezirovitz, K., Oiticica, J., & Bento, R. F. (2017). Evidence of progenitor cells in the adult human cochlea: sphere formation and identification of ABCG2. Clinics, 72( 11), 714-717. doi:10.6061/clinics/2017(11)11
NLM
Massucci-Bissoli M, Lezirovitz K, Oiticica J, Bento RF. Evidence of progenitor cells in the adult human cochlea: sphere formation and identification of ABCG2 [Internet]. Clinics. 2017 ; 72( 11): 714-717.[citado 2023 set. 24 ] Available from: http://www.scielo.br/pdf/clin/v72n11/1807-5932-clin-72-11-714.pdf
Vancouver
Massucci-Bissoli M, Lezirovitz K, Oiticica J, Bento RF. Evidence of progenitor cells in the adult human cochlea: sphere formation and identification of ABCG2 [Internet]. Clinics. 2017 ; 72( 11): 714-717.[citado 2023 set. 24 ] Available from: http://www.scielo.br/pdf/clin/v72n11/1807-5932-clin-72-11-714.pdf
Artigo de periodico
fosI is a new integron-associated gene cassette encoding reduced susceptibility to fosfomycin (2016)
Pelegrino, Karla de Oliveira; Campos, Juliana Coutinho; Sampaio, Suely Carlos Ferreira; Lezirovitz, Karina; Seco, Bruna Mara; Pereira, Mayne de Oliveira; Rocha, Darlan Augusto da Costa; Jove, Thomas; Nicodemo, Antônio Carlos; Sampaio, Jorge Luiz Mello
Source: Antimicrobial Agents and Chemotherapy. Unidades: FM, FCF
Subjects: AGENTES ANTIMICROBIANOS, MYCOBACTERIUM
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ABNT
PELEGRINO, Karla de Oliveira et al. fosI is a new integron-associated gene cassette encoding reduced susceptibility to fosfomycin. Antimicrobial Agents and Chemotherapy, v. 60, n. 1, p. 686-688, 2016Tradução . . Disponível em: http://dx.doi.org/10.1128/AAC.02437-15. Acesso em: 24 set. 2023.
APA
Pelegrino, K. de O., Campos, J. C., Sampaio, S. C. F., Lezirovitz, K., Seco, B. M., Pereira, M. de O., et al. (2016). fosI is a new integron-associated gene cassette encoding reduced susceptibility to fosfomycin. Antimicrobial Agents and Chemotherapy, 60( 1), 686-688. doi:10.1128/AAC.02437-15
NLM
Pelegrino K de O, Campos JC, Sampaio SCF, Lezirovitz K, Seco BM, Pereira M de O, Rocha DA da C, Jove T, Nicodemo AC, Sampaio JLM. fosI is a new integron-associated gene cassette encoding reduced susceptibility to fosfomycin [Internet]. Antimicrobial Agents and Chemotherapy. 2016 ; 60( 1): 686-688.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1128/AAC.02437-15
Vancouver
Pelegrino K de O, Campos JC, Sampaio SCF, Lezirovitz K, Seco BM, Pereira M de O, Rocha DA da C, Jove T, Nicodemo AC, Sampaio JLM. fosI is a new integron-associated gene cassette encoding reduced susceptibility to fosfomycin [Internet]. Antimicrobial Agents and Chemotherapy. 2016 ; 60( 1): 686-688.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1128/AAC.02437-15
Artigo de periodico
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family (2014)
Dantas, Vitor G. L.; Lezirovitz, Karina; Yamamoto, Guilherme L; Souza, Carolina Fischinger Moura de; Ferreira, Simone Gomes; Mingroni-Netto, Regina Célia
Source: Genetics and Molecular Biology. Unidade: IB
Subjects: SURDEZ, PERDA AUDITIVA DE ALTA FREQUÊNCIA, MUTAÇÃO GENÉTICA, MAPEAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
DANTAS, Vitor G. L. et al. c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. Genetics and Molecular Biology, p. on-line, 2014Tradução . . Disponível em: http://dx.doi.org/10.1590/S1415-47572014005000025. Acesso em: 24 set. 2023.
APA
Dantas, V. G. L., Lezirovitz, K., Yamamoto, G. L., Souza, C. F. M. de, Ferreira, S. G., & Mingroni-Netto, R. C. (2014). c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. Genetics and Molecular Biology, on-line. doi:10.1590/S1415-47572014005000025
NLM
Dantas VGL, Lezirovitz K, Yamamoto GL, Souza CFM de, Ferreira SG, Mingroni-Netto RC. c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family [Internet]. Genetics and Molecular Biology. 2014 ; on-line.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1590/S1415-47572014005000025
Vancouver
Dantas VGL, Lezirovitz K, Yamamoto GL, Souza CFM de, Ferreira SG, Mingroni-Netto RC. c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family [Internet]. Genetics and Molecular Biology. 2014 ; on-line.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1590/S1415-47572014005000025
Parte de monografia/livro
Disacusias de origem genética (2013)
Lezirovitz, Karina; Mingroni-Netto, Regina Célia
Source: Tratado de Otologia. Unidade: IB
Subjects: PERDA AUDITIVA, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LEZIROVITZ, Karina e MINGRONI-NETTO, Regina Célia. Disacusias de origem genética. Tratado de Otologia. Tradução . São Paulo: Atheneu, 2013. . . Acesso em: 24 set. 2023.
APA
Lezirovitz, K., & Mingroni-Netto, R. C. (2013). Disacusias de origem genética. In Tratado de Otologia. São Paulo: Atheneu.
NLM
Lezirovitz K, Mingroni-Netto RC. Disacusias de origem genética. In: Tratado de Otologia. São Paulo: Atheneu; 2013. [citado 2023 set. 24 ]
Vancouver
Lezirovitz K, Mingroni-Netto RC. Disacusias de origem genética. In: Tratado de Otologia. São Paulo: Atheneu; 2013. [citado 2023 set. 24 ]
Artigo de periodico
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion (2012)
Klopocki, Eva; Lohan, Silke; Doelken Sandra C; Stricker, Sigmar; Ockeloen, Charlotte W; Aguiar, Renata Soares Thiele de; Lezirovitz, Karina; Mingroni-Netto, Regina Célia; Jamsheer, Aleksander; Shah, Hitesh; Kurth, Ingo; Habenicht, Rolf; Warman, Matthew; Devriendt, Koenraad; Kordaß, Ulrike; Hempel, Maja; Rajab, Anna; Mäkitie, Outi; Naveed, Mohammed; Radhakrishna, Uppala; Antonarakis, Stylianos E
Source: Journal of Medical Genetics. Unidade: IB
Subjects: MALFORMAÇÕES, DOENÇAS GENÉTICAS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KLOPOCKI, Eva et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics, v. 49, n. 2, p. 119-125, 2012Tradução . . Disponível em: http://dx.doi.org/10.1136/jmedgenet-2011-100409. Acesso em: 24 set. 2023.
APA
Klopocki, E., Lohan, S., Doelken Sandra C,, Stricker, S., Ockeloen, C. W., Aguiar, R. S. T. de, et al. (2012). Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics, 49( 2), 119-125. doi:10.1136/jmedgenet-2011-100409
NLM
Klopocki E, Lohan S, Doelken Sandra C, Stricker S, Ockeloen CW, Aguiar RST de, 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. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 119-125.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1136/jmedgenet-2011-100409
Vancouver
Klopocki E, Lohan S, Doelken Sandra C, Stricker S, Ockeloen CW, Aguiar RST de, 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. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 119-125.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1136/jmedgenet-2011-100409
Artigo de periodico
Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominat deafness in a Brazilian family (2012)
Lezirovitz, Karina; Batissoco, Ana Carla; Lima, Fernanda T; Auricchio, Maria Teresa Ballester de Melo; Nonose, Renata Watanabe; Santos, Simone R.; Guilherme, Luiza; Oiticica, Jeanne; Mingroni-Netto, Regina Célia
Source: Gene. Unidade: IB
Subjects: PERDA AUDITIVA, LINHAGEM CELULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LEZIROVITZ, Karina et al. Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominat deafness in a Brazilian family. Gene, v. 511, n. 2, p. 280-284, 2012Tradução . . Disponível em: http://dx.doi.org/10.1016/j.gene.2012.09.023. Acesso em: 24 set. 2023.
APA
Lezirovitz, K., Batissoco, A. C., Lima, F. T., Auricchio, M. T. B. de M., Nonose, R. W., Santos, S. R., et al. (2012). Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominat deafness in a Brazilian family. Gene, 511( 2), 280-284. doi:10.1016/j.gene.2012.09.023
NLM
Lezirovitz K, Batissoco AC, Lima FT, Auricchio MTB de M, Nonose RW, Santos SR, Guilherme L, Oiticica J, Mingroni-Netto RC. Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominat deafness in a Brazilian family [Internet]. Gene. 2012 ; 511( 2): 280-284.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1016/j.gene.2012.09.023
Vancouver
Lezirovitz K, Batissoco AC, Lima FT, Auricchio MTB de M, Nonose RW, Santos SR, Guilherme L, Oiticica J, Mingroni-Netto RC. Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominat deafness in a Brazilian family [Internet]. Gene. 2012 ; 511( 2): 280-284.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1016/j.gene.2012.09.023
Trabalho de evento-resumo periodico
Viable, proliferating progenitor cells (2011)
Oiticica, Jeanne; Batissoco, Ana Carla; Lezirovitz, Karina; Barboza Junior, Luiz C. M; Haddad, Luciana Amaral; Mingroni-Netto, Regina Célia; Bento, Ricardo F
Source: Otolaryngology - Head and Neck Surgery. Conference titles: Annual Meeting of the American Academy of Otolaryngology-Head and Neck Surgery Foundantion. Unidades: IB, FM
Subjects: IMUNOFLUORESCÊNCIA, FIBROBLASTOS, OUVIDO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
OITICICA, Jeanne et al. Viable, proliferating progenitor cells. Otolaryngology - Head and Neck Surgery. Alexandria: Instituto de Biociências, Universidade de São Paulo. Disponível em: http://dx.doi.org/10.1177/0194599811415823a320. Acesso em: 24 set. 2023. , 2011
APA
Oiticica, J., Batissoco, A. C., Lezirovitz, K., Barboza Junior, L. C. M., Haddad, L. A., Mingroni-Netto, R. C., & Bento, R. F. (2011). Viable, proliferating progenitor cells. Otolaryngology - Head and Neck Surgery. Alexandria: Instituto de Biociências, Universidade de São Paulo. doi:10.1177/0194599811415823a320
NLM
Oiticica J, Batissoco AC, Lezirovitz K, Barboza Junior LCM, Haddad LA, Mingroni-Netto RC, Bento RF. Viable, proliferating progenitor cells [Internet]. Otolaryngology - Head and Neck Surgery. 2011 ; 145( 2): P232-P233.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1177/0194599811415823a320
Vancouver
Oiticica J, Batissoco AC, Lezirovitz K, Barboza Junior LCM, Haddad LA, Mingroni-Netto RC, Bento RF. Viable, proliferating progenitor cells [Internet]. Otolaryngology - Head and Neck Surgery. 2011 ; 145( 2): P232-P233.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1177/0194599811415823a320
Artigo de periodico
Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea (2010)
Oiticica, Jeanne; Barboza Junior, Luiz Carlos M; Batissoco, Ana Carla; Lezirovitz, Karina; Mingroni-Netto, Regina Célia; Haddad, Luciana Amaral; Bento, Ricardo Ferreira
Source: Journal of Translational Medicine. Unidades: FM, IB
Subjects: FENÓTIPOS, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
OITICICA, Jeanne et al. Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea. Journal of Translational Medicine, v. 8, 2010Tradução . . Disponível em: http://dx.doi.org/10.1186/1479-5876-8-119. Acesso em: 24 set. 2023.
APA
Oiticica, J., Barboza Junior, L. C. M., Batissoco, A. C., Lezirovitz, K., Mingroni-Netto, R. C., Haddad, L. A., & Bento, R. F. (2010). Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea. Journal of Translational Medicine, 8. doi:10.1186/1479-5876-8-119
NLM
Oiticica J, Barboza Junior LCM, Batissoco AC, Lezirovitz K, Mingroni-Netto RC, Haddad LA, Bento RF. Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea [Internet]. Journal of Translational Medicine. 2010 ; 8[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1186/1479-5876-8-119
Vancouver
Oiticica J, Barboza Junior LCM, Batissoco AC, Lezirovitz K, Mingroni-Netto RC, Haddad LA, Bento RF. Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea [Internet]. Journal of Translational Medicine. 2010 ; 8[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1186/1479-5876-8-119
Artigo de periodico
Spastic paraplegia, optic atrophy, and neuropathy: new observations, Locus Refinement, and Exclusion of candidate genes (2009)
Macedo-Souza, Lúcia Inês; Kok, Fernando; Santos, Silvana; Licinio, Luciana; Lezirovitz, Karina; Cavaçana, Natale; Bueno, Clarissa; Amorim, Simone; Pessoa, André; Graciani, Zodja; Ferreira, Áurea Fávero; Prazeres, Abdísio; Melo, Aurea Nogueira de; Otto, Paulo Alberto; Zatz, Mayana
Source: Annals of Human Genetics. Unidade: IB
Subjects: DOENÇAS NEURODEGENERATIVAS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MACEDO-SOUZA, Lúcia Inês et al. Spastic paraplegia, optic atrophy, and neuropathy: new observations, Locus Refinement, and Exclusion of candidate genes. Annals of Human Genetics, v. 73, n. 3, p. 382-387, 2009Tradução . . Disponível em: http://dx.doi.org/10.1111/j.1469-1809.2009.00507.x. Acesso em: 24 set. 2023.
APA
Macedo-Souza, L. I., Kok, F., Santos, S., Licinio, L., Lezirovitz, K., Cavaçana, N., et al. (2009). Spastic paraplegia, optic atrophy, and neuropathy: new observations, Locus Refinement, and Exclusion of candidate genes. Annals of Human Genetics, 73( 3), 382-387. doi:10.1111/j.1469-1809.2009.00507.x
NLM
Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira ÁF, Prazeres A, Melo AN de, Otto PA, Zatz M. Spastic paraplegia, optic atrophy, and neuropathy: new observations, Locus Refinement, and Exclusion of candidate genes [Internet]. Annals of Human Genetics. 2009 ; 73( 3): 382-387.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1111/j.1469-1809.2009.00507.x
Vancouver
Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira ÁF, Prazeres A, Melo AN de, Otto PA, Zatz M. Spastic paraplegia, optic atrophy, and neuropathy: new observations, Locus Refinement, and Exclusion of candidate genes [Internet]. Annals of Human Genetics. 2009 ; 73( 3): 382-387.[citado 2023 set. 24 ] Available from: http://dx.doi.org/10.1111/j.1469-1809.2009.00507.x
Trabalho de evento-resumo
Estudos de mapeamento em família com uma nova síndrome de agenesia/hipoplasia fibular associada à ectrodactilia (2009)
Thiele-Aguiar, Renata Soares; Santos, Silvana Cristina dos; Lezirovitz, Karina; Kok, Fernando; Otto, Paulo Alberto; Mingroni-Netto, Regina Célia
Source: Resumos. Conference titles: Congresso Brasileiro de Genética. Unidade: IB
Subjects: GENÉTICA MÉDICA, MUTAÇÃO GENÉTICA, AGENESIA, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
THIELE-AGUIAR, Renata Soares et al. Estudos de mapeamento em família com uma nova síndrome de agenesia/hipoplasia fibular associada à ectrodactilia. 2009, Anais.. Ribeirao Preto: Sociedade Brasileira de Genética (SBG), 2009. . Acesso em: 24 set. 2023.
APA
Thiele-Aguiar, R. S., Santos, S. C. dos, Lezirovitz, K., Kok, F., Otto, P. A., & Mingroni-Netto, R. C. (2009). Estudos de mapeamento em família com uma nova síndrome de agenesia/hipoplasia fibular associada à ectrodactilia. In Resumos. Ribeirao Preto: Sociedade Brasileira de Genética (SBG).
NLM
Thiele-Aguiar RS, Santos SC dos, Lezirovitz K, Kok F, Otto PA, Mingroni-Netto RC. Estudos de mapeamento em família com uma nova síndrome de agenesia/hipoplasia fibular associada à ectrodactilia. Resumos. 2009 ;[citado 2023 set. 24 ]
Vancouver
Thiele-Aguiar RS, Santos SC dos, Lezirovitz K, Kok F, Otto PA, Mingroni-Netto RC. Estudos de mapeamento em família com uma nova síndrome de agenesia/hipoplasia fibular associada à ectrodactilia. Resumos. 2009 ;[citado 2023 set. 24 ]
Artigo de periodico
Novel OTOF mutations in Brazilian patients with auditory neuropath (2009)
Romanos, Jihane; Kimura, Lilian; Fávero, Mariana Lopes; Izarra, Fernanda Attanasio R; Auricchio, Maria Teresa Ballester de Melo; Batissoco, Ana Carla; Lezirovitz, Karina; Abreu-Silva, Ronaldo Serafim; Mingroni-Netto, Regina Célia
Source: Journal of Human Genetics. Unidade: IB
Subjects: MUTAÇÃO GENÉTICA, SURDEZ
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROMANOS, Jihane et al. Novel OTOF mutations in Brazilian patients with auditory neuropath. Journal of Human Genetics, v. 54, n. 7, p. 382-385, 2009Tradução . . Acesso em: 24 set. 2023.
APA
Romanos, J., Kimura, L., Fávero, M. L., Izarra, F. A. R., Auricchio, M. T. B. de M., Batissoco, A. C., et al. (2009). Novel OTOF mutations in Brazilian patients with auditory neuropath. Journal of Human Genetics, 54( 7), 382-385. doi:10.1038/jhg.2009.45
NLM
Romanos J, Kimura L, Fávero ML, Izarra FAR, Auricchio MTB de M, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC. Novel OTOF mutations in Brazilian patients with auditory neuropath. Journal of Human Genetics. 2009 ; 54( 7): 382-385.[citado 2023 set. 24 ]
Vancouver
Romanos J, Kimura L, Fávero ML, Izarra FAR, Auricchio MTB de M, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC. Novel OTOF mutations in Brazilian patients with auditory neuropath. Journal of Human Genetics. 2009 ; 54( 7): 382-385.[citado 2023 set. 24 ]
Artigo de periodico
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 (2009)
Batissoco, Ana Carla; Abreu-Silva, Ronaldo Serafim; Braga, Maria Cristina Célia; Lezirovitz, Karina; Della Rosa, Valter Augusto; Tabith Jr, Alfredo; Otto, Paulo Alberto; Mingroni-Netto, Regina Célia
Source: Ear and Hearing. Unidade: IB
Subjects: MUTAÇÃO GENÉTICA, ACONSELHAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BATISSOCO, Ana Carla et al. 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. Ear and Hearing, v. 30, n. 1, p. 1-7, 2009Tradução . . Acesso em: 24 set. 2023.
APA
Batissoco, A. C., Abreu-Silva, R. S., Braga, M. C. C., Lezirovitz, K., Della Rosa, V. A., Tabith Jr, A., et al. (2009). 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. Ear and Hearing, 30( 1), 1-7.
NLM
Batissoco AC, Abreu-Silva RS, Braga MCC, Lezirovitz K, Della Rosa VA, Tabith Jr A, Otto PA, Mingroni-Netto RC. 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. Ear and Hearing. 2009 ; 30( 1): 1-7.[citado 2023 set. 24 ]
Vancouver
Batissoco AC, Abreu-Silva RS, Braga MCC, Lezirovitz K, Della Rosa VA, Tabith Jr A, Otto PA, Mingroni-Netto RC. 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. Ear and Hearing. 2009 ; 30( 1): 1-7.[citado 2023 set. 24 ]

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