Filtros : "HRAC" "BUENO, MARIA RITA DOS SANTOS E PASSOS" Limpar

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  • Source: American Journal of Human Genetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidades: IB, HRAC

    Assunto: DOENÇAS HEREDITÁRIAS

    How to cite
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    • ABNT

      ZORICK, T. S. et al. Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 09 maio 2024. , 2001
    • APA

      Zorick, T. S., Fernandes, A. Y., Turma, P., Matsushita, H., Zanini, S. A., Palhares, A., & Passos-Bueno, M. R. (2001). Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo.
    • NLM

      Zorick TS, Fernandes AY, Turma P, Matsushita H, Zanini SA, Palhares A, Passos-Bueno MR. Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. 2001 ; 69( 4): 454.[citado 2024 maio 09 ]
    • Vancouver

      Zorick TS, Fernandes AY, Turma P, Matsushita H, Zanini SA, Palhares A, Passos-Bueno MR. Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. 2001 ; 69( 4): 454.[citado 2024 maio 09 ]
  • Source: American Journal of Human Genetics. Conference titles: American Society of Human Genetics. Unidades: IB, HRAC

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      SPLENDORE, A et al. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF. Acesso em: 09 maio 2024. , 1999
    • APA

      Splendore, A., Silva, E. O., Alonso, L. G., Brunoni, D., Alonso, N., Richieri-Costa, A., et al. (1999). Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
    • NLM

      Splendore A, Silva EO, Alonso LG, Brunoni D, Alonso N, Richieri-Costa A, Cavalcanti D, Carakushansky G, Zatz M, Passos-Bueno MR. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome [Internet]. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2024 maio 09 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
    • Vancouver

      Splendore A, Silva EO, Alonso LG, Brunoni D, Alonso N, Richieri-Costa A, Cavalcanti D, Carakushansky G, Zatz M, Passos-Bueno MR. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome [Internet]. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2024 maio 09 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
  • Source: American Journal of Medical Genetics. Unidades: IB, HRAC

    Assunto: GENÉTICA MÉDICA

    Acesso à fonteDOIHow to cite
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    • ABNT

      PASSOS-BUENO, Maria Rita et al. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, v. 78, p. 237-241, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m. Acesso em: 09 maio 2024.
    • APA

      Passos-Bueno, M. R., Sertié, A. L., Richieri-Costa, A., Alonso, L. G., Zatz, M., Alonso, N., et al. (1998). Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, 78, 237-241. doi:10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
    • NLM

      Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SFM. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [Internet]. American Journal of Medical Genetics. 1998 ; 78 237-241.[citado 2024 maio 09 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
    • Vancouver

      Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SFM. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [Internet]. American Journal of Medical Genetics. 1998 ; 78 237-241.[citado 2024 maio 09 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
  • Source: American Journal of Medical Genetics. Unidades: IB, HRAC

    Subjects: SÍNDROMES OROFACIODIGITAIS, MUTAÇÃO, POLIMORFISMO

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    • ABNT

      PASSOS-BUENO, Maria Rita e SERTIÉ, Andréa Laurato e RICHIERI-COSTA, Antonio. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?. American Journal of Medical Genetics, v. 71, n. 2, p. 243-245, 1997Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d. Acesso em: 09 maio 2024.
    • APA

      Passos-Bueno, M. R., Sertié, A. L., & Richieri-Costa, A. (1997). Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? American Journal of Medical Genetics, 71( 2), 243-245. doi:10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
    • NLM

      Passos-Bueno MR, Sertié AL, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 243-245.[citado 2024 maio 09 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
    • Vancouver

      Passos-Bueno MR, Sertié AL, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 243-245.[citado 2024 maio 09 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
  • Source: Brazilian Journal of Genetics = Revista Brasileira de Genetica. Conference titles: International Congress of Human Genetics. Unidades: IB, HRAC

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      PASSOS-BUENO, Maria Rita et al. Screening of c934g and c937g mutations among patients with craniosynostosis reveals two apert patients not caused by any of these mutations. Brazilian Journal of Genetics = Revista Brasileira de Genetica. [S.l.]: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 09 maio 2024. , 1996
    • APA

      Passos-Bueno, M. R., Richieri-Costa, A., Otto, P. A., Kok, F., Sertie, A. L., Alonso, L., et al. (1996). Screening of c934g and c937g mutations among patients with craniosynostosis reveals two apert patients not caused by any of these mutations. Brazilian Journal of Genetics = Revista Brasileira de Genetica. Instituto de Biociências, Universidade de São Paulo.
    • NLM

      Passos-Bueno MR, Richieri-Costa A, Otto PA, Kok F, Sertie AL, Alonso L, Brunoni D, Ribeiro SFM, Ferreira MC. Screening of c934g and c937g mutations among patients with craniosynostosis reveals two apert patients not caused by any of these mutations. Brazilian Journal of Genetics = Revista Brasileira de Genetica. 1996 ;19( 2 suppl.): 246.[citado 2024 maio 09 ]
    • Vancouver

      Passos-Bueno MR, Richieri-Costa A, Otto PA, Kok F, Sertie AL, Alonso L, Brunoni D, Ribeiro SFM, Ferreira MC. Screening of c934g and c937g mutations among patients with craniosynostosis reveals two apert patients not caused by any of these mutations. Brazilian Journal of Genetics = Revista Brasileira de Genetica. 1996 ;19( 2 suppl.): 246.[citado 2024 maio 09 ]

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