Filtros : "GENES" "Richieri-Costa, Antonio" Removido: "FERRO, MÁRCIA REGINA" Limpar

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  • Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRAC, HRACF

    Subjects: HOLOPROSENCEFALIA, GÊMEOS, GENES

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    • ABNT

      RIBEIRO, Lucilene Arilho et al. Alobar holoprosencephaly in 2 sibs: an autosomal recessive type? 2009, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2009. Disponível em: https://repositorio.usp.br/directbitstream/78a1506c-dcaf-41bc-bf4a-484a8be5c662/3203446.pdf. Acesso em: 09 out. 2024.
    • APA

      Ribeiro, L. A., Richieri-Costa, A., Zechi-Ceide, R. M., & Guion-Almeida, M. L. (2009). Alobar holoprosencephaly in 2 sibs: an autosomal recessive type? In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/78a1506c-dcaf-41bc-bf4a-484a8be5c662/3203446.pdf
    • NLM

      Ribeiro LA, Richieri-Costa A, Zechi-Ceide RM, Guion-Almeida ML. Alobar holoprosencephaly in 2 sibs: an autosomal recessive type? [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/78a1506c-dcaf-41bc-bf4a-484a8be5c662/3203446.pdf
    • Vancouver

      Ribeiro LA, Richieri-Costa A, Zechi-Ceide RM, Guion-Almeida ML. Alobar holoprosencephaly in 2 sibs: an autosomal recessive type? [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/78a1506c-dcaf-41bc-bf4a-484a8be5c662/3203446.pdf
  • Source: Anais. Conference titles: International Congress on Cleft Lip and Palate and Related Craniofacial Anomalies: Cleft and craniofacial care experience, evolution and innovation. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, GENES, HISTIOCITOSE, FENÓTIPOS

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    • ABNT

      RIBEIRO-BICUDO, Lucilene Arilho e RICHIERI-COSTA, Antonio. A novel heterozygous missense mutation G317D of SIX3 gene in a patient with holoprosencephaly and histiocytosis x. 2009, Anais.. Fortaleza: SOBRAPAR, 2009. Disponível em: https://repositorio.usp.br/directbitstream/f3e2aad0-e9c8-482c-a8b6-4489251b91a8/3099540.pdf. Acesso em: 09 out. 2024.
    • APA

      Ribeiro-Bicudo, L. A., & Richieri-Costa, A. (2009). A novel heterozygous missense mutation G317D of SIX3 gene in a patient with holoprosencephaly and histiocytosis x. In Anais. Fortaleza: SOBRAPAR. Recuperado de https://repositorio.usp.br/directbitstream/f3e2aad0-e9c8-482c-a8b6-4489251b91a8/3099540.pdf
    • NLM

      Ribeiro-Bicudo LA, Richieri-Costa A. A novel heterozygous missense mutation G317D of SIX3 gene in a patient with holoprosencephaly and histiocytosis x [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/f3e2aad0-e9c8-482c-a8b6-4489251b91a8/3099540.pdf
    • Vancouver

      Ribeiro-Bicudo LA, Richieri-Costa A. A novel heterozygous missense mutation G317D of SIX3 gene in a patient with holoprosencephaly and histiocytosis x [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/f3e2aad0-e9c8-482c-a8b6-4489251b91a8/3099540.pdf
  • Source: Anais. Conference titles: International Congress on Cleft Lip and Palate and Related Craniofacial Anomalies: Cleft and craniofacial care experience, evolution and innovation. Unidade: HRAC

    Subjects: OFTALMOLOGIA, HOLOPROSENCEFALIA, GENES

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    • ABNT

      RICHIERI-COSTA, Antonio e RIBEIRO-BICUDO, Lucilene Arilho. Ocular findings in a patient with a pathogenic mutation in the PTCH gene. 2009, Anais.. Fortaleza: SOBRAPAR, 2009. Disponível em: https://repositorio.usp.br/directbitstream/2f0b2631-e279-402f-8a06-da3248e9768b/3099517.pdf. Acesso em: 09 out. 2024.
    • APA

      Richieri-Costa, A., & Ribeiro-Bicudo, L. A. (2009). Ocular findings in a patient with a pathogenic mutation in the PTCH gene. In Anais. Fortaleza: SOBRAPAR. Recuperado de https://repositorio.usp.br/directbitstream/2f0b2631-e279-402f-8a06-da3248e9768b/3099517.pdf
    • NLM

      Richieri-Costa A, Ribeiro-Bicudo LA. Ocular findings in a patient with a pathogenic mutation in the PTCH gene [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/2f0b2631-e279-402f-8a06-da3248e9768b/3099517.pdf
    • Vancouver

      Richieri-Costa A, Ribeiro-Bicudo LA. Ocular findings in a patient with a pathogenic mutation in the PTCH gene [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/2f0b2631-e279-402f-8a06-da3248e9768b/3099517.pdf
  • Source: Anais. Conference titles: International Congress on Cleft Lip and Palate and Related Craniofacial Anomalies: Cleft and craniofacial care experience, evolution and innovation. Unidade: HRAC

    Subjects: FISSURA LÁBIOPALATINA, METABOLISMO, GENES

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    • ABNT

      PAULA, Ligiane Alves Machado et al. Association of folate metabolism genes with brazilian cases of nonsyndromic cleft lip and/or palate. 2009, Anais.. Fortaleza: SOBRAPAR, 2009. Disponível em: https://repositorio.usp.br/directbitstream/406a1218-98e4-4427-805d-1550691acd19/3099699.pdf. Acesso em: 09 out. 2024.
    • APA

      Paula, L. A. M., Petrin, A. L., Ribeiro-Bicudo, L. A., Moretti Ferreira, D., Marazita, M. L., Cooper, M. E., et al. (2009). Association of folate metabolism genes with brazilian cases of nonsyndromic cleft lip and/or palate. In Anais. Fortaleza: SOBRAPAR. Recuperado de https://repositorio.usp.br/directbitstream/406a1218-98e4-4427-805d-1550691acd19/3099699.pdf
    • NLM

      Paula LAM, Petrin AL, Ribeiro-Bicudo LA, Moretti Ferreira D, Marazita ML, Cooper ME, Mossey PA, Richieri-Costa A, Murray JC. Association of folate metabolism genes with brazilian cases of nonsyndromic cleft lip and/or palate [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/406a1218-98e4-4427-805d-1550691acd19/3099699.pdf
    • Vancouver

      Paula LAM, Petrin AL, Ribeiro-Bicudo LA, Moretti Ferreira D, Marazita ML, Cooper ME, Mossey PA, Richieri-Costa A, Murray JC. Association of folate metabolism genes with brazilian cases of nonsyndromic cleft lip and/or palate [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/406a1218-98e4-4427-805d-1550691acd19/3099699.pdf
  • Source: Anais. Conference titles: International Congress on Cleft Lip and Palate and Related Craniofacial Anomalies: Cleft and craniofacial care experience, evolution and innovation. Unidade: HRAC

    Subjects: GENES, ANORMALIDADES CRANIOFACIAIS

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      POLA-SILVA, L. e RICHIERI-COSTA, Antonio e RIBEIRO-BICUDO, Lucilene Arilho. Mutational analysis of TGIF and six3 genes in patients with the frontonasal dysplasia, agenesis of the corpus callosum, basal encephalocele and ocular abnormalities syndrome. 2009, Anais.. Fortaleza: SOBRAPAR, 2009. Disponível em: https://repositorio.usp.br/directbitstream/3070ceae-76f4-4f89-a6cc-a58f51202b63/3099790.pdf. Acesso em: 09 out. 2024.
    • APA

      Pola-Silva, L., Richieri-Costa, A., & Ribeiro-Bicudo, L. A. (2009). Mutational analysis of TGIF and six3 genes in patients with the frontonasal dysplasia, agenesis of the corpus callosum, basal encephalocele and ocular abnormalities syndrome. In Anais. Fortaleza: SOBRAPAR. Recuperado de https://repositorio.usp.br/directbitstream/3070ceae-76f4-4f89-a6cc-a58f51202b63/3099790.pdf
    • NLM

      Pola-Silva L, Richieri-Costa A, Ribeiro-Bicudo LA. Mutational analysis of TGIF and six3 genes in patients with the frontonasal dysplasia, agenesis of the corpus callosum, basal encephalocele and ocular abnormalities syndrome [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/3070ceae-76f4-4f89-a6cc-a58f51202b63/3099790.pdf
    • Vancouver

      Pola-Silva L, Richieri-Costa A, Ribeiro-Bicudo LA. Mutational analysis of TGIF and six3 genes in patients with the frontonasal dysplasia, agenesis of the corpus callosum, basal encephalocele and ocular abnormalities syndrome [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/3070ceae-76f4-4f89-a6cc-a58f51202b63/3099790.pdf
  • Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRACF, HRAC

    Subjects: GENES, HOLOPROSENCEFALIA, OFTALMOLOGIA

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      RIBEIRO, Lucilene Arilho e RICHIERI-COSTA, Antonio. Ocular findings in a patient with a pathogenic mutation in the PTCH gene. 2009, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2009. Disponível em: https://repositorio.usp.br/directbitstream/2b21fd02-125c-49f0-8235-60090236bc52/3208680.pdf. Acesso em: 09 out. 2024.
    • APA

      Ribeiro, L. A., & Richieri-Costa, A. (2009). Ocular findings in a patient with a pathogenic mutation in the PTCH gene. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/2b21fd02-125c-49f0-8235-60090236bc52/3208680.pdf
    • NLM

      Ribeiro LA, Richieri-Costa A. Ocular findings in a patient with a pathogenic mutation in the PTCH gene [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/2b21fd02-125c-49f0-8235-60090236bc52/3208680.pdf
    • Vancouver

      Ribeiro LA, Richieri-Costa A. Ocular findings in a patient with a pathogenic mutation in the PTCH gene [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/2b21fd02-125c-49f0-8235-60090236bc52/3208680.pdf
  • Source: Anais. Conference titles: International Congress on Cleft Lip and Palate and Related Craniofacial Anomalies: Cleft and craniofacial care experience, evolution and innovation. Unidade: HRAC

    Subjects: FISSURA LÁBIOPALATINA, GENES, FENÓTIPOS

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      BERTOLACINI, C e RICHIERI-COSTA, Antonio e RIBEIRO-BICUDO, Lucilene Arilho. Analysis of the IRF6 and SHH genes in brazilian individuals with nonsyndromic cleft lip and palate. 2009, Anais.. Fortaleza: SOBRAPAR, 2009. Disponível em: https://repositorio.usp.br/directbitstream/0c0c52a0-6628-4cd2-8538-300b5e7b1447/3099502.pdf. Acesso em: 09 out. 2024.
    • APA

      Bertolacini, C., Richieri-Costa, A., & Ribeiro-Bicudo, L. A. (2009). Analysis of the IRF6 and SHH genes in brazilian individuals with nonsyndromic cleft lip and palate. In Anais. Fortaleza: SOBRAPAR. Recuperado de https://repositorio.usp.br/directbitstream/0c0c52a0-6628-4cd2-8538-300b5e7b1447/3099502.pdf
    • NLM

      Bertolacini C, Richieri-Costa A, Ribeiro-Bicudo LA. Analysis of the IRF6 and SHH genes in brazilian individuals with nonsyndromic cleft lip and palate [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/0c0c52a0-6628-4cd2-8538-300b5e7b1447/3099502.pdf
    • Vancouver

      Bertolacini C, Richieri-Costa A, Ribeiro-Bicudo LA. Analysis of the IRF6 and SHH genes in brazilian individuals with nonsyndromic cleft lip and palate [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/0c0c52a0-6628-4cd2-8538-300b5e7b1447/3099502.pdf
  • Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidade: HRAC

    Subjects: FISSURA LÁBIOPALATINA, GENES

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      BERTOLACINI, Claudia Danielli Pereira e RICHIERI-COSTA, Antonio e RIBEIRO-BICUDO, Lucilene Arilho. Analysis of the IRF6 and SHH genes in brazilian individuals with nosnsyndromic cleft lip and palate. 2009, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2009. Disponível em: https://repositorio.usp.br/directbitstream/bca3ae75-17bd-48f0-a820-993207b0e5fa/3203519.pdf. Acesso em: 09 out. 2024.
    • APA

      Bertolacini, C. D. P., Richieri-Costa, A., & Ribeiro-Bicudo, L. A. (2009). Analysis of the IRF6 and SHH genes in brazilian individuals with nosnsyndromic cleft lip and palate. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/bca3ae75-17bd-48f0-a820-993207b0e5fa/3203519.pdf
    • NLM

      Bertolacini CDP, Richieri-Costa A, Ribeiro-Bicudo LA. Analysis of the IRF6 and SHH genes in brazilian individuals with nosnsyndromic cleft lip and palate [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/bca3ae75-17bd-48f0-a820-993207b0e5fa/3203519.pdf
    • Vancouver

      Bertolacini CDP, Richieri-Costa A, Ribeiro-Bicudo LA. Analysis of the IRF6 and SHH genes in brazilian individuals with nosnsyndromic cleft lip and palate [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/bca3ae75-17bd-48f0-a820-993207b0e5fa/3203519.pdf
  • Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidade: HRAC

    Subjects: GENÉTICA MOLECULAR, GENES, HOLOPROSENCEFALIA, OFTALMOPATIAS

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      BERTOLACINI, Claudia Danielli Pereira et al. Molecular analysis of the genes PTCH1 and GLI2 in brazilian individuals with ocular malformation and holoprosencephaly. 2009, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2009. Disponível em: https://repositorio.usp.br/directbitstream/661560e3-c5c2-4838-9820-9bc6b5c9cd9b/3200602.pdf. Acesso em: 09 out. 2024.
    • APA

      Bertolacini, C. D. P., Ribeiro-Bicudo, L. A., Petrin, A. L., Richieri-Costa, A., & Murray, J. C. (2009). Molecular analysis of the genes PTCH1 and GLI2 in brazilian individuals with ocular malformation and holoprosencephaly. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/661560e3-c5c2-4838-9820-9bc6b5c9cd9b/3200602.pdf
    • NLM

      Bertolacini CDP, Ribeiro-Bicudo LA, Petrin AL, Richieri-Costa A, Murray JC. Molecular analysis of the genes PTCH1 and GLI2 in brazilian individuals with ocular malformation and holoprosencephaly [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/661560e3-c5c2-4838-9820-9bc6b5c9cd9b/3200602.pdf
    • Vancouver

      Bertolacini CDP, Ribeiro-Bicudo LA, Petrin AL, Richieri-Costa A, Murray JC. Molecular analysis of the genes PTCH1 and GLI2 in brazilian individuals with ocular malformation and holoprosencephaly [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/661560e3-c5c2-4838-9820-9bc6b5c9cd9b/3200602.pdf
  • Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, FENÓTIPOS, MUTAÇÃO GENÉTICA, GENES

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      NASCIMENTO, A et al. Mutation in gas1 gene in individuals with holoprosencephalia-like phenotype. 2009, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2009. Disponível em: https://repositorio.usp.br/directbitstream/5675df6c-efbe-4c2b-9080-6744f238cf67/3203398.pdf. Acesso em: 09 out. 2024.
    • APA

      Nascimento, A., Quiezi, R. G., Ferreira, A. P., Goes, L. D., Richieri-Costa, A., & Ribeiro-Bicudo, L. A. (2009). Mutation in gas1 gene in individuals with holoprosencephalia-like phenotype. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/5675df6c-efbe-4c2b-9080-6744f238cf67/3203398.pdf
    • NLM

      Nascimento A, Quiezi RG, Ferreira AP, Goes LD, Richieri-Costa A, Ribeiro-Bicudo LA. Mutation in gas1 gene in individuals with holoprosencephalia-like phenotype [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/5675df6c-efbe-4c2b-9080-6744f238cf67/3203398.pdf
    • Vancouver

      Nascimento A, Quiezi RG, Ferreira AP, Goes LD, Richieri-Costa A, Ribeiro-Bicudo LA. Mutation in gas1 gene in individuals with holoprosencephalia-like phenotype [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/5675df6c-efbe-4c2b-9080-6744f238cf67/3203398.pdf
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, FISSURA LÁBIOPALATINA BILATERAL, GENES, ANORMALIDADES MÚLTIPLAS

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      ZECHI-CEIDE, Roseli Maria et al. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. American Journal of Medical Genetics. Part A, v. 149A, n. 6, p. 1277-1279, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32844. Acesso em: 09 out. 2024.
    • APA

      Zechi-Ceide, R. M., Ribeiro, L. A., Raskin, S., Bertolacini, C. D. P., Guion-Almeida, M. L., & Richieri-Costa, A. (2009). Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. American Journal of Medical Genetics. Part A, 149A( 6), 1277-1279. doi:10.1002/ajmg.a.32844
    • NLM

      Zechi-Ceide RM, Ribeiro LA, Raskin S, Bertolacini CDP, Guion-Almeida ML, Richieri-Costa A. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 6): 1277-1279.[citado 2024 out. 09 ] Available from: https://doi.org/10.1002/ajmg.a.32844
    • Vancouver

      Zechi-Ceide RM, Ribeiro LA, Raskin S, Bertolacini CDP, Guion-Almeida ML, Richieri-Costa A. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 6): 1277-1279.[citado 2024 out. 09 ] Available from: https://doi.org/10.1002/ajmg.a.32844
  • Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRACF, HRAC

    Subjects: ÁCIDO FÓLICO, FISSURA LÁBIOPALATINA, GENES

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      MACHADO-PAULA, Ligiane Alves et al. Association of folate metabolism genes with brazilian cases of nonsyndromic cleft lip and/or palate. 2009, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2009. Disponível em: https://repositorio.usp.br/directbitstream/c70a45af-3cf6-43bd-9d1e-4d65a50755a9/3207263.pdf. Acesso em: 09 out. 2024.
    • APA

      Machado-Paula, L. A., Petrin, A. L., Ribeiro-Bicudo, L. A., Moretti Ferreira, D., Marazita, M. L., Cooper, M. E., et al. (2009). Association of folate metabolism genes with brazilian cases of nonsyndromic cleft lip and/or palate. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/c70a45af-3cf6-43bd-9d1e-4d65a50755a9/3207263.pdf
    • NLM

      Machado-Paula LA, Petrin AL, Ribeiro-Bicudo LA, Moretti Ferreira D, Marazita ML, Cooper ME, Mossey PA, Richieri-Costa A, Murray JC. Association of folate metabolism genes with brazilian cases of nonsyndromic cleft lip and/or palate [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/c70a45af-3cf6-43bd-9d1e-4d65a50755a9/3207263.pdf
    • Vancouver

      Machado-Paula LA, Petrin AL, Ribeiro-Bicudo LA, Moretti Ferreira D, Marazita ML, Cooper ME, Mossey PA, Richieri-Costa A, Murray JC. Association of folate metabolism genes with brazilian cases of nonsyndromic cleft lip and/or palate [Internet]. Anais. 2009 ;[citado 2024 out. 09 ] Available from: https://repositorio.usp.br/directbitstream/c70a45af-3cf6-43bd-9d1e-4d65a50755a9/3207263.pdf
  • Source: Brain & Development. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, GENES

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      RICHIERI-COSTA, Antonio e RIBEIRO, Lucilene Arilho. Variable phenotypic manifestations of a K44N mutation in the TGIF gene. Brain & Development, v. 30, n. 3, p. 203-205, 2008Tradução . . Disponível em: https://doi.org/10.1016/j.braindev.2007.07.012. Acesso em: 09 out. 2024.
    • APA

      Richieri-Costa, A., & Ribeiro, L. A. (2008). Variable phenotypic manifestations of a K44N mutation in the TGIF gene. Brain & Development, 30( 3), 203-205. doi:10.1016/j.braindev.2007.07.012
    • NLM

      Richieri-Costa A, Ribeiro LA. Variable phenotypic manifestations of a K44N mutation in the TGIF gene [Internet]. Brain & Development. 2008 ; 30( 3): 203-205.[citado 2024 out. 09 ] Available from: https://doi.org/10.1016/j.braindev.2007.07.012
    • Vancouver

      Richieri-Costa A, Ribeiro LA. Variable phenotypic manifestations of a K44N mutation in the TGIF gene [Internet]. Brain & Development. 2008 ; 30( 3): 203-205.[citado 2024 out. 09 ] Available from: https://doi.org/10.1016/j.braindev.2007.07.012
  • Source: Clinical Dysmorphology. Unidades: HRAC, IB

    Subjects: ANORMALIDADES MÚLTIPLAS, FENÓTIPOS, GENES

    Acesso à fonteDOIHow to cite
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    • ABNT

      CEIDE, Roseli Maria Zechi et al. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. Clinical Dysmorphology, v. 17, n. 3, p. 225-226, 2008Tradução . . Disponível em: https://doi.org/10.1097/mcd.0b013e3282fe1b8e. Acesso em: 09 out. 2024.
    • APA

      Ceide, R. M. Z., Oliveira, N. A. de J., Guion-Almeida, M. L., Antunes, L. F. B. B., Richieri-Costa, A., & Passos-Bueno, M. R. (2008). Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. Clinical Dysmorphology, 17( 3), 225-226. doi:10.1097/mcd.0b013e3282fe1b8e
    • NLM

      Ceide RMZ, Oliveira NA de J, Guion-Almeida ML, Antunes LFBB, Richieri-Costa A, Passos-Bueno MR. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene [Internet]. Clinical Dysmorphology. 2008 ; 17( 3): 225-226.[citado 2024 out. 09 ] Available from: https://doi.org/10.1097/mcd.0b013e3282fe1b8e
    • Vancouver

      Ceide RMZ, Oliveira NA de J, Guion-Almeida ML, Antunes LFBB, Richieri-Costa A, Passos-Bueno MR. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene [Internet]. Clinical Dysmorphology. 2008 ; 17( 3): 225-226.[citado 2024 out. 09 ] Available from: https://doi.org/10.1097/mcd.0b013e3282fe1b8e
  • Source: The Cleft Palate-Craniofacial Journal. Unidades: IB, HRAC

    Subjects: GENES, FISSURA LÁBIOPALATINA, GENÓTIPOS

    How to cite
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    • ABNT

      PASSOS-BUENO, Maria Rita et al. Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal, v. 41, n. 4, p. 387-391, 2004Tradução . . Acesso em: 09 out. 2024.
    • APA

      Passos-Bueno, M. R., Gaspar, D. A., Kamiya, T. Y., Tescarollo, G., Rabanéa, D. S., Richieri-Costa, A., et al. (2004). Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal, 41( 4), 387-391.
    • NLM

      Passos-Bueno MR, Gaspar DA, Kamiya TY, Tescarollo G, Rabanéa DS, Richieri-Costa A, Alonso N, Araújo B. Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal. 2004 ; 41( 4): 387-391.[citado 2024 out. 09 ]
    • Vancouver

      Passos-Bueno MR, Gaspar DA, Kamiya TY, Tescarollo G, Rabanéa DS, Richieri-Costa A, Alonso N, Araújo B. Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal. 2004 ; 41( 4): 387-391.[citado 2024 out. 09 ]
  • Source: Nature Genetics. Unidade: HRAC

    Subjects: MUTAÇÃO GENÉTICA, GENES, FISSURA LÁBIOPALATINA

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    • ABNT

      SUZUKI, Koji et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nature Genetics, v. 25, p. 427-430, 2000Tradução . . Disponível em: https://doi.org/10.1038/78119. Acesso em: 09 out. 2024.
    • APA

      Suzuki, K., Hu, D., Bustos, T., Zlotogora, J., Richieri-Costa, A., Helms, J. A., & Spritz, R. A. (2000). Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nature Genetics, 25, 427-430. doi:10.1038/78119
    • NLM

      Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia [Internet]. Nature Genetics. 2000 ; 25 427-430.[citado 2024 out. 09 ] Available from: https://doi.org/10.1038/78119
    • Vancouver

      Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia [Internet]. Nature Genetics. 2000 ; 25 427-430.[citado 2024 out. 09 ] Available from: https://doi.org/10.1038/78119
  • Source: American Journal of Medical Genetics. Unidade: HRAC

    Subjects: ANORMALIDADES CONGÊNITAS, GENES, FENÓTIPOS

    Acesso à fonteDOIHow to cite
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    • ABNT

      GRIMALDI, Angela et al. Variable expressivity of the acheiropodia gene. American Journal of Medical Genetics, v. 16, n. 4, p. 631-634, 1983Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320160420. Acesso em: 09 out. 2024.
    • APA

      Grimaldi, A., Masiero, D., Richieri-Costa, A., & Maia, A. F. (1983). Variable expressivity of the acheiropodia gene. American Journal of Medical Genetics, 16( 4), 631-634. doi:10.1002/ajmg.1320160420
    • NLM

      Grimaldi A, Masiero D, Richieri-Costa A, Maia AF. Variable expressivity of the acheiropodia gene [Internet]. American Journal of Medical Genetics. 1983 ; 16( 4): 631-634.[citado 2024 out. 09 ] Available from: https://doi.org/10.1002/ajmg.1320160420
    • Vancouver

      Grimaldi A, Masiero D, Richieri-Costa A, Maia AF. Variable expressivity of the acheiropodia gene [Internet]. American Journal of Medical Genetics. 1983 ; 16( 4): 631-634.[citado 2024 out. 09 ] Available from: https://doi.org/10.1002/ajmg.1320160420

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