Filtros : "NETTO, REGINA CELIA MINGRONI" "Genetics and Molecular Biology" Removidos: "Universidade Federal do Paraná (UFPR)" "ARTIGO DE PERIODICO-DIVULGACAO" "SIBI" Limpar

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  • Source: Genetics and Molecular Biology. Unidade: IB

    Subjects: MALFORMAÇÕES (CONGÊNITO), DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA

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    • ABNT

      ALVES, Leandro Ucela et al. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. Genetics and Molecular Biology, v. 38, n. 1, p. 37-41, 2015Tradução . . Disponível em: https://doi.org/10.1590/S1415-475738120140125. Acesso em: 24 jun. 2024.
    • APA

      Alves, L. U., Pardono, E., Otto, P. A., & Mingroni Netto, R. C. (2015). A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. Genetics and Molecular Biology, 38( 1), 37-41. doi:10.1590/S1415-475738120140125
    • NLM

      Alves LU, Pardono E, Otto PA, Mingroni Netto RC. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome [Internet]. Genetics and Molecular Biology. 2015 ; 38( 1): 37-41.[citado 2024 jun. 24 ] Available from: https://doi.org/10.1590/S1415-475738120140125
    • Vancouver

      Alves LU, Pardono E, Otto PA, Mingroni Netto RC. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome [Internet]. Genetics and Molecular Biology. 2015 ; 38( 1): 37-41.[citado 2024 jun. 24 ] Available from: https://doi.org/10.1590/S1415-475738120140125
  • Source: Genetics and Molecular Biology. Unidade: IB

    Subjects: SURDEZ, PERDA AUDITIVA DE ALTA FREQUÊNCIA, MUTAÇÃO GENÉTICA, MAPEAMENTO GENÉTICO

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    • 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: https://doi.org/10.1590/S1415-47572014005000025. Acesso em: 24 jun. 2024.
    • 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 2024 jun. 24 ] Available from: https://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 2024 jun. 24 ] Available from: https://doi.org/10.1590/S1415-47572014005000025
  • Source: Genetics and Molecular Biology. Unidade: IB

    Subjects: FACE (DEFEITO), ANORMALIDADES CRANIOFACIAIS, DOENÇAS GENÉTICAS

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    • ABNT

      PARDONO, Eliete et al. Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant. Genetics and Molecular Biology, v. 29, n. 4, p. 601-604, 2006Tradução . . Disponível em: https://doi.org/10.1590/s1415-47572006000400003. Acesso em: 24 jun. 2024.
    • APA

      Pardono, E., Mazzeu, J. F., Lezirovitz, K., Auricchio, M. T. B. de M., Iughetti, P., Nascimento, R. M. P., et al. (2006). Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant. Genetics and Molecular Biology, 29( 4), 601-604. doi:10.1590/s1415-47572006000400003
    • NLM

      Pardono E, Mazzeu JF, Lezirovitz K, Auricchio MTB de M, Iughetti P, Nascimento RMP, Mingroni Netto RC, Otto PA. Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant [Internet]. Genetics and Molecular Biology. 2006 ; 29( 4): 601-604.[citado 2024 jun. 24 ] Available from: https://doi.org/10.1590/s1415-47572006000400003
    • Vancouver

      Pardono E, Mazzeu JF, Lezirovitz K, Auricchio MTB de M, Iughetti P, Nascimento RMP, Mingroni Netto RC, Otto PA. Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant [Internet]. Genetics and Molecular Biology. 2006 ; 29( 4): 601-604.[citado 2024 jun. 24 ] Available from: https://doi.org/10.1590/s1415-47572006000400003
  • Source: Genetics and Molecular Biology. Unidade: IB

    Subjects: RETARDO MENTAL, MUTAÇÃO GENÉTICA

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    • ABNT

      CAPELLI, Leonardo Pires e MINGRONI NETTO, Regina Celia e VIANNA-MORGANTE, Angela M. Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population. Genetics and Molecular Biology, v. 28, n. 1, p. 10-15, 2005Tradução . . Disponível em: https://doi.org/10.1590/s1415-47572005000100002. Acesso em: 24 jun. 2024.
    • APA

      Capelli, L. P., Mingroni Netto, R. C., & Vianna-Morgante, A. M. (2005). Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population. Genetics and Molecular Biology, 28( 1), 10-15. doi:10.1590/s1415-47572005000100002
    • NLM

      Capelli LP, Mingroni Netto RC, Vianna-Morgante AM. Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population [Internet]. Genetics and Molecular Biology. 2005 ; 28( 1): 10-15.[citado 2024 jun. 24 ] Available from: https://doi.org/10.1590/s1415-47572005000100002
    • Vancouver

      Capelli LP, Mingroni Netto RC, Vianna-Morgante AM. Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population [Internet]. Genetics and Molecular Biology. 2005 ; 28( 1): 10-15.[citado 2024 jun. 24 ] Available from: https://doi.org/10.1590/s1415-47572005000100002

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