Filtros : "Indexado no Excerpta Médica" "Passos-Bueno, Maria Rita" Removido: "Pesquisa FAPESP" Limpar

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  • Source: American Journal of Medical Genetics. Unidades: IB, FM

    Subjects: GENÉTICA MÉDICA, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA

    Acesso à fonteDOIHow to cite
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    • ABNT

      CARVALHO, Ellaine et al. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, p. on-line., 2015Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36789. Acesso em: 08 out. 2024.
    • APA

      Carvalho, E., Honjo, R., Magalhães, M., Yamamoto, G., Rocha, K., Naslavsky, M., et al. (2015). Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, on-line. doi:10.1002/ajmg.a.36789
    • NLM

      Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.[citado 2024 out. 08 ] Available from: https://doi.org/10.1002/ajmg.a.36789
    • Vancouver

      Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.[citado 2024 out. 08 ] Available from: https://doi.org/10.1002/ajmg.a.36789
  • Source: Matrix Biology. Unidade: IQ

    Assunto: COLÁGENO

    Acesso à fonteDOIHow to cite
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    • ABNT

      ARMELIN-CORREA, Lucia M. et al. Characterization of human Collagen XVIII promoter 2: interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes. Matrix Biology, v. 24, n. 8, p. 550-559, 2005Tradução . . Disponível em: https://doi.org/10.1016/j.matbio.2005.08.003. Acesso em: 08 out. 2024.
    • APA

      Armelin-Correa, L. M., Lin, C. J., Barbosa, Â., Bagatini, K., Winnischofer, S. M. B., Sogayar, M. C., & Passos-Bueno, M. R. (2005). Characterization of human Collagen XVIII promoter 2: interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes. Matrix Biology, 24( 8), 550-559. doi:10.1016/j.matbio.2005.08.003
    • NLM

      Armelin-Correa LM, Lin CJ, Barbosa Â, Bagatini K, Winnischofer SMB, Sogayar MC, Passos-Bueno MR. Characterization of human Collagen XVIII promoter 2: interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes [Internet]. Matrix Biology. 2005 ; 24( 8): 550-559.[citado 2024 out. 08 ] Available from: https://doi.org/10.1016/j.matbio.2005.08.003
    • Vancouver

      Armelin-Correa LM, Lin CJ, Barbosa Â, Bagatini K, Winnischofer SMB, Sogayar MC, Passos-Bueno MR. Characterization of human Collagen XVIII promoter 2: interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes [Internet]. Matrix Biology. 2005 ; 24( 8): 550-559.[citado 2024 out. 08 ] Available from: https://doi.org/10.1016/j.matbio.2005.08.003
  • Source: European Journal of Human Genetics. Unidade: IB

    Subjects: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA

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    • ABNT

      PAULA, Flavia de et al. Clinical variability in calpainopathy: what makes the difference?. European Journal of Human Genetics, v. 10, p. 825-832, 2002Tradução . . Disponível em: https://doi.org/10.1038/sj.ejhg.5200888. Acesso em: 08 out. 2024.
    • APA

      Paula, F. de, Vainzof, M., Passos-Bueno, M. R., Pavanello, R. de C. M., Matioli, S. R., Anderson, L. V. B., et al. (2002). Clinical variability in calpainopathy: what makes the difference? European Journal of Human Genetics, 10, 825-832. doi:10.1038/sj.ejhg.5200888
    • NLM

      Paula F de, Vainzof M, Passos-Bueno MR, Pavanello R de CM, Matioli SR, Anderson LVB, Nigro V, Zatz M. Clinical variability in calpainopathy: what makes the difference? [Internet]. European Journal of Human Genetics. 2002 ; 10 825-832.[citado 2024 out. 08 ] Available from: https://doi.org/10.1038/sj.ejhg.5200888
    • Vancouver

      Paula F de, Vainzof M, Passos-Bueno MR, Pavanello R de CM, Matioli SR, Anderson LVB, Nigro V, Zatz M. Clinical variability in calpainopathy: what makes the difference? [Internet]. European Journal of Human Genetics. 2002 ; 10 825-832.[citado 2024 out. 08 ] Available from: https://doi.org/10.1038/sj.ejhg.5200888
  • Source: American Journal of Medical Genetics. Unidade: IB

    Subjects: GENÉTICA MÉDICA, MALFORMAÇÕES, DOENÇAS HEREDITÁRIAS

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    • ABNT

      STARLING, A. et al. Further evidence for a fourth gene causing X-linked pure spastic paraplegia. American Journal of Medical Genetics, v. 111, p. 152-156, 2002Tradução . . Disponível em: https://doi.org/10.1002/ajmg.10551. Acesso em: 08 out. 2024.
    • APA

      Starling, A., Rocco, P., Cambi, F., Hobson, G. M., Passos-Bueno, M. R., & Zatz, M. (2002). Further evidence for a fourth gene causing X-linked pure spastic paraplegia. American Journal of Medical Genetics, 111, 152-156. doi:10.1002/ajmg.10551
    • NLM

      Starling A, Rocco P, Cambi F, Hobson GM, Passos-Bueno MR, Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia [Internet]. American Journal of Medical Genetics. 2002 ; 111 152-156.[citado 2024 out. 08 ] Available from: https://doi.org/10.1002/ajmg.10551
    • Vancouver

      Starling A, Rocco P, Cambi F, Hobson GM, Passos-Bueno MR, Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia [Internet]. American Journal of Medical Genetics. 2002 ; 111 152-156.[citado 2024 out. 08 ] Available from: https://doi.org/10.1002/ajmg.10551

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