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  • Source: PLOS ONE. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, GENÉTICA

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    • ABNT

      ROESSLER, E et al. Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly. PLOS ONE, v. 7, n. 7, p. e39026, 2012Tradução . . Disponível em: http://dx.doi.org/10.1371/journal.pone.0039026. Acesso em: 29 set. 2022.
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      Roessler, E., Hu, P., Hong, S. -K., Srivastava, K., Carrington, B., Sood, R., et al. (2012). Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly. PLOS ONE, 7( 7), e39026. doi:10.1371/journal.pone.0039026
    • NLM

      Roessler E, Hu P, Hong S-K, Srivastava K, Carrington B, Sood R, Petrykowska H, Elnitski L, Ribeiro LA, Richieri-Costa A, Feldman B, Odenwald WF, Muenke M. Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly [Internet]. PLOS ONE. 2012 ; 7( 7): e39026.[citado 2022 set. 29 ] Available from: http://dx.doi.org/10.1371/journal.pone.0039026
    • Vancouver

      Roessler E, Hu P, Hong S-K, Srivastava K, Carrington B, Sood R, Petrykowska H, Elnitski L, Ribeiro LA, Richieri-Costa A, Feldman B, Odenwald WF, Muenke M. Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly [Internet]. PLOS ONE. 2012 ; 7( 7): e39026.[citado 2022 set. 29 ] Available from: http://dx.doi.org/10.1371/journal.pone.0039026
  • Source: Birth Defects Research. Part A, Clinical and Molecular Teratology.. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, POLIMORFISMO, MUTAÇÃO GENÉTICA

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    • ABNT

      RIBEIRO, Lucilene Arilho et al. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. Birth Defects Research. Part A, Clinical and Molecular Teratology., v. No 2012, n. 11, p. 912-917, 2012Tradução . . Disponível em: http://dx.doi.org/10.1002/bdra.23047. Acesso em: 29 set. 2022.
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      Ribeiro, L. A., Roessler, E., Hu, P., Pineda-Alvarez, D. E., Zhou, N., Jones, M. P., et al. (2012). Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. Birth Defects Research. Part A, Clinical and Molecular Teratology., No 2012( 11), 912-917. doi:10.1002/bdra.23047
    • NLM

      Ribeiro LA, Roessler E, Hu P, Pineda-Alvarez DE, Zhou N, Jones MP, Chandrasekharappa S, Richieri-Costa A, Muenke M. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort [Internet]. Birth Defects Research. Part A, Clinical and Molecular Teratology. 2012 ; No 2012( 11): 912-917.[citado 2022 set. 29 ] Available from: http://dx.doi.org/10.1002/bdra.23047
    • Vancouver

      Ribeiro LA, Roessler E, Hu P, Pineda-Alvarez DE, Zhou N, Jones MP, Chandrasekharappa S, Richieri-Costa A, Muenke M. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort [Internet]. Birth Defects Research. Part A, Clinical and Molecular Teratology. 2012 ; No 2012( 11): 912-917.[citado 2022 set. 29 ] Available from: http://dx.doi.org/10.1002/bdra.23047
  • Source: Clinical Dysmorphology. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, PROTEÍNAS DO TECIDO NERVOSO, FENÓTIPOS, IMAGEM POR RESSONÂNCIA MAGNÉTICA

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    • ABNT

      RIBEIRO, Lucilene Arilho et al. A novel heterozygous missense mutation G316D of SIX3 gene in a brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis. Clinical Dysmorphology, v. 20, n. 3, p. 160-162, 2011Tradução . . Acesso em: 29 set. 2022.
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      Ribeiro, L. A., Bertolacini, C. D. P., Quiezi, R. G., & Richieri-Costa, A. (2011). A novel heterozygous missense mutation G316D of SIX3 gene in a brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis. Clinical Dysmorphology, 20( 3), 160-162. doi:10.1097/MCD.0b013e32834116ae
    • NLM

      Ribeiro LA, Bertolacini CDP, Quiezi RG, Richieri-Costa A. A novel heterozygous missense mutation G316D of SIX3 gene in a brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis. Clinical Dysmorphology. 2011 ; 20( 3): 160-162.[citado 2022 set. 29 ]
    • Vancouver

      Ribeiro LA, Bertolacini CDP, Quiezi RG, Richieri-Costa A. A novel heterozygous missense mutation G316D of SIX3 gene in a brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis. Clinical Dysmorphology. 2011 ; 20( 3): 160-162.[citado 2022 set. 29 ]
  • Source: American Journal of Medical Genetics, Part C, Seminars in Medical Genetics. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, FENÓTIPOS, ANORMALIDADES CRANIOFACIAIS

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    • ABNT

      RICHIERI-COSTA, Antonio e RIBEIRO, Lucilene Arilho. Holoprosencephaly and holoprosencephaly-like phenotypes: review of facial and molecular findings in patients from a craniofacial hospital in Brazil. American Journal of Medical Genetics, Part C, Seminars in Medical Genetics, v. 154C, n. 1, p. 149-157, 2010Tradução . . Disponível em: http://dx.doi.org/10.1002/ajmg.c.30247. Acesso em: 29 set. 2022.
    • APA

      Richieri-Costa, A., & Ribeiro, L. A. (2010). Holoprosencephaly and holoprosencephaly-like phenotypes: review of facial and molecular findings in patients from a craniofacial hospital in Brazil. American Journal of Medical Genetics, Part C, Seminars in Medical Genetics, 154C( 1), 149-157. doi:10.1002/ajmg.c.30247
    • NLM

      Richieri-Costa A, Ribeiro LA. Holoprosencephaly and holoprosencephaly-like phenotypes: review of facial and molecular findings in patients from a craniofacial hospital in Brazil [Internet]. American Journal of Medical Genetics, Part C, Seminars in Medical Genetics. 2010 ; 154C( 1): 149-157.[citado 2022 set. 29 ] Available from: http://dx.doi.org/10.1002/ajmg.c.30247
    • Vancouver

      Richieri-Costa A, Ribeiro LA. Holoprosencephaly and holoprosencephaly-like phenotypes: review of facial and molecular findings in patients from a craniofacial hospital in Brazil [Internet]. American Journal of Medical Genetics, Part C, Seminars in Medical Genetics. 2010 ; 154C( 1): 149-157.[citado 2022 set. 29 ] Available from: http://dx.doi.org/10.1002/ajmg.c.30247
  • Source: American Journal of Medical Genetics, Part A. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, RESSONÂNCIA MAGNÉTICA, SEQUENCIAMENTO GENÉTICO, EDUCAÇÃO INFANTIL

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    • ABNT

      RIBEIRO, Lucilene Arilho et al. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients. American Journal of Medical Genetics, Part A, v. 152A, n. 7, p. 1688-1694, 2010Tradução . . Disponível em: http://dx.doi.org/10.1002/ajmg.a.33466. Acesso em: 29 set. 2022.
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      Ribeiro, L. A., Quiezi, R. G., Nascimento, A., Bertolacini, C. D. P., & Richieri-Costa, A. (2010). Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients. American Journal of Medical Genetics, Part A, 152A( 7), 1688-1694. doi:10.1002/ajmg.a.33466
    • NLM

      Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CDP, Richieri-Costa A. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients [Internet]. American Journal of Medical Genetics, Part A. 2010 ; 152A( 7): 1688-1694.[citado 2022 set. 29 ] Available from: http://dx.doi.org/10.1002/ajmg.a.33466
    • Vancouver

      Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CDP, Richieri-Costa A. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients [Internet]. American Journal of Medical Genetics, Part A. 2010 ; 152A( 7): 1688-1694.[citado 2022 set. 29 ] Available from: http://dx.doi.org/10.1002/ajmg.a.33466
  • 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: http://dx.doi.org/10.1002/ajmg.a.32844. Acesso em: 29 set. 2022.
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      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 2022 set. 29 ] Available from: http://dx.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 2022 set. 29 ] Available from: http://dx.doi.org/10.1002/ajmg.a.32844
  • 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: http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T50-4PKP4CR-1&_user=5674931&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_version=1&_urlVersion=0&_userid=5674931&md5=4e12447c0670d7bc8406cf734844a5a7. Acesso em: 29 set. 2022.
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      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 2022 set. 29 ] Available from: http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T50-4PKP4CR-1&_user=5674931&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_version=1&_urlVersion=0&_userid=5674931&md5=4e12447c0670d7bc8406cf734844a5a7
    • 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 2022 set. 29 ] Available from: http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T50-4PKP4CR-1&_user=5674931&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_version=1&_urlVersion=0&_userid=5674931&md5=4e12447c0670d7bc8406cf734844a5a7
  • Source: Anais do VII Encontro Científico de Pós-Graduação HRAC-USP. Conference title: Encontro Científico de Pós-Graduação HRAC-USP. Unidades: HRAC, HRACF

    Subjects: HOLOPROSENCEFALIA, MUTAÇÃO GENÉTICA

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      BERTOLACINI, Claudia Danielli Pereira et al. Holoprosencefalia-like e mutação no gene shh: relato de caso. 2007, Anais.. Bauru: HRAC-USP, 2007. Disponível em: https://repositorio.usp.br/directbitstream/06434b06-1f18-431e-96e8-ab4eb6596527/2969515.pdf. Acesso em: 29 set. 2022.
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      Bertolacini, C. D. P., Antoneli, M. Z., Ribeiro, L. A., & Richieri-Costa, A. (2007). Holoprosencefalia-like e mutação no gene shh: relato de caso. In Anais do VII Encontro Científico de Pós-Graduação HRAC-USP. Bauru: HRAC-USP. Recuperado de https://repositorio.usp.br/directbitstream/06434b06-1f18-431e-96e8-ab4eb6596527/2969515.pdf
    • NLM

      Bertolacini CDP, Antoneli MZ, Ribeiro LA, Richieri-Costa A. Holoprosencefalia-like e mutação no gene shh: relato de caso [Internet]. Anais do VII Encontro Científico de Pós-Graduação HRAC-USP. 2007 ;[citado 2022 set. 29 ] Available from: https://repositorio.usp.br/directbitstream/06434b06-1f18-431e-96e8-ab4eb6596527/2969515.pdf
    • Vancouver

      Bertolacini CDP, Antoneli MZ, Ribeiro LA, Richieri-Costa A. Holoprosencefalia-like e mutação no gene shh: relato de caso [Internet]. Anais do VII Encontro Científico de Pós-Graduação HRAC-USP. 2007 ;[citado 2022 set. 29 ] Available from: https://repositorio.usp.br/directbitstream/06434b06-1f18-431e-96e8-ab4eb6596527/2969515.pdf
  • Source: American Journal of Medical Genetics Part A. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, MUTAÇÃO GENÉTICA, FISSURA LÁBIOPALATINA

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      RIBEIRO, Lucilene Arilho et al. SIX3 mutations with holoprosencephaly. American Journal of Medical Genetics Part A, v. 140A, n. 23, p. 2577-2583, 2006Tradução . . Acesso em: 29 set. 2022.
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      Ribeiro, L. A., El-Jaick, K. B., Muenke, M., & Richieri-Costa, A. (2006). SIX3 mutations with holoprosencephaly. American Journal of Medical Genetics Part A, 140A( 23), 2577-2583. doi:10.1002/ajmg.a.31377
    • NLM

      Ribeiro LA, El-Jaick KB, Muenke M, Richieri-Costa A. SIX3 mutations with holoprosencephaly. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2577-2583.[citado 2022 set. 29 ]
    • Vancouver

      Ribeiro LA, El-Jaick KB, Muenke M, Richieri-Costa A. SIX3 mutations with holoprosencephaly. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2577-2583.[citado 2022 set. 29 ]
  • Source: The Cleft Palate-Craniofacial Journal. Unidade: HRAC

    Subject: SÍNDROME DE GOLDENHAR

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      RICHIERI-COSTA, Antonio e RIBEIRO, Lucilene Arilho. Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?. The Cleft Palate-Craniofacial Journal, v. 43, n. 4, p. 429-434, 2006Tradução . . Disponível em: http://cpcj.allenpress.com/pdfserv/10.1597%2F05-060.1. Acesso em: 29 set. 2022.
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      Richieri-Costa, A., & Ribeiro, L. A. (2006). Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum? The Cleft Palate-Craniofacial Journal, 43( 4), 429-434. Recuperado de http://cpcj.allenpress.com/pdfserv/10.1597%2F05-060.1
    • NLM

      Richieri-Costa A, Ribeiro LA. Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum? [Internet]. The Cleft Palate-Craniofacial Journal. 2006 ; 43( 4): 429-434.[citado 2022 set. 29 ] Available from: http://cpcj.allenpress.com/pdfserv/10.1597%2F05-060.1
    • Vancouver

      Richieri-Costa A, Ribeiro LA. Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum? [Internet]. The Cleft Palate-Craniofacial Journal. 2006 ; 43( 4): 429-434.[citado 2022 set. 29 ] Available from: http://cpcj.allenpress.com/pdfserv/10.1597%2F05-060.1
  • Source: American Journal of Medical Genetics Part A. Unidade: HRAC

    Subjects: FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS, ANOMALIA DENTÁRIA, FENÓTIPOS

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      RICHIERI-COSTA, Antonio e RIBEIRO, Lucilene Arilho. Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype. American Journal of Medical Genetics Part A, v. 140A, n. 23, p. 2594-2597, 2006Tradução . . Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/113374318/PDFSTART. Acesso em: 29 set. 2022.
    • APA

      Richieri-Costa, A., & Ribeiro, L. A. (2006). Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype. American Journal of Medical Genetics Part A, 140A( 23), 2594-2597. doi:10.1002/ajmg.a.31379
    • NLM

      Richieri-Costa A, Ribeiro LA. Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2594-2597.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/113374318/PDFSTART
    • Vancouver

      Richieri-Costa A, Ribeiro LA. Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2594-2597.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/113374318/PDFSTART
  • Source: American Journal of Medical Genetics Part A. Unidades: HRAC, HRACF

    Subjects: HOLOPROSENCEFALIA, AUDIOLOGIA, AUDIOMETRIA DE RESPOSTAS EVOCADAS DE TRONCO CEREBRAL

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    • ABNT

      ANTONELI, Melissa Zattoni et al. Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles. American Journal of Medical Genetics Part A, v. 140, n. 19, p. 2142-2145, 2006Tradução . . Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/112635103/PDFSTART. Acesso em: 29 set. 2022.
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      Antoneli, M. Z., Zanchetta, S., Zorzetto, N. L., Ribeiro, L. A., & Richieri-Costa, A. (2006). Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles. American Journal of Medical Genetics Part A, 140( 19), 2142-2145. doi:10.1002/ajmg.a.31296
    • NLM

      Antoneli MZ, Zanchetta S, Zorzetto NL, Ribeiro LA, Richieri-Costa A. Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140( 19): 2142-2145.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/112635103/PDFSTART
    • Vancouver

      Antoneli MZ, Zanchetta S, Zorzetto NL, Ribeiro LA, Richieri-Costa A. Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140( 19): 2142-2145.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/112635103/PDFSTART
  • Source: American Journal of Medical Genetics Part A. Unidade: HRAC

    Subjects: FISSURA LÁBIOPALATINA, ANORMALIDADES MÚLTIPLAS, HOLOPROSENCEFALIA, MUTAÇÃO, FENÓTIPOS

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      RIBEIRO, Lucilene Arilho e MURRAY, Jeffrey C. e RICHIERI-COSTA, Antonio. PTCH mutations in four brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. American Journal of Medical Genetics Part A, v. 140A, n. 23, p. 2584-2586, 2006Tradução . . Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/113374316/PDFSTART. Acesso em: 29 set. 2022.
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      Ribeiro, L. A., Murray, J. C., & Richieri-Costa, A. (2006). PTCH mutations in four brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. American Journal of Medical Genetics Part A, 140A( 23), 2584-2586. doi:10.1002/ajmg.a.31369
    • NLM

      Ribeiro LA, Murray JC, Richieri-Costa A. PTCH mutations in four brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2584-2586.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/113374316/PDFSTART
    • Vancouver

      Ribeiro LA, Murray JC, Richieri-Costa A. PTCH mutations in four brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2584-2586.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/113374316/PDFSTART
  • Source: American Journal of Medical Genetics. Part A. Unidades: FOB, HRAC

    Subjects: AVALIAÇÃO DA LINGUAGEM, AVALIAÇÃO NEUROPSICOLÓGICA, HOLOPROSENCEFALIA, COGNIÇÃO

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      SANTIAGO, Giselda et al. Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype. American Journal of Medical Genetics. Part A, v. 104A, n. 19, p. 2085-2090, 2006Tradução . . Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/112649684/PDFSTART?CRETRY=1&SRETRY=0. Acesso em: 29 set. 2022.
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      Santiago, G., Abramides, D. V. M., De Vitto, L. P. M., Ribeiro, L. A., Meira Júnior, S. G., & Richieri-Costa, A. (2006). Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype. American Journal of Medical Genetics. Part A, 104A( 19), 2085-2090. doi:10.1002/ajmg.a.31311
    • NLM

      Santiago G, Abramides DVM, De Vitto LPM, Ribeiro LA, Meira Júnior SG, Richieri-Costa A. Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype [Internet]. American Journal of Medical Genetics. Part A. 2006 ; 104A( 19): 2085-2090.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/112649684/PDFSTART?CRETRY=1&SRETRY=0
    • Vancouver

      Santiago G, Abramides DVM, De Vitto LPM, Ribeiro LA, Meira Júnior SG, Richieri-Costa A. Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype [Internet]. American Journal of Medical Genetics. Part A. 2006 ; 104A( 19): 2085-2090.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/112649684/PDFSTART?CRETRY=1&SRETRY=0
  • Source: American Journal of Medical Genetics Part A. Unidade: HRAC

    Subject: HOLOPROSENCEFALIA

    Online source accessDOIHow to cite
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    • ABNT

      RAHIMOV, Fedik et al. GLI2 mutations in four brazilian patients: how wide is the phenotypic spectrum?. American Journal of Medical Genetics Part A, v. 140A, n. 23, p. 2571-2576, 2006Tradução . . Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/113455551/PDFSTART. Acesso em: 29 set. 2022.
    • APA

      Rahimov, F., Ribeiro, L. A., Miranda, E. de, Richieri-Costa, A., & Murray, J. C. (2006). GLI2 mutations in four brazilian patients: how wide is the phenotypic spectrum? American Journal of Medical Genetics Part A, 140A( 23), 2571-2576. doi:10.1002/ajmg.a.31370
    • NLM

      Rahimov F, Ribeiro LA, Miranda E de, Richieri-Costa A, Murray JC. GLI2 mutations in four brazilian patients: how wide is the phenotypic spectrum? [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2571-2576.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/113455551/PDFSTART
    • Vancouver

      Rahimov F, Ribeiro LA, Miranda E de, Richieri-Costa A, Murray JC. GLI2 mutations in four brazilian patients: how wide is the phenotypic spectrum? [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2571-2576.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/113455551/PDFSTART
  • Source: American Journal of Medical Genetics Part A. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, ANORMALIDADES MÚLTIPLAS, MUTAÇÃO GENÉTICA

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    • ABNT

      RICHIERI-COSTA, Antonio e RIBEIRO, Lucilene Arilho. Holoprosencephaly-like phenotype: clinical and genetic perspectives. American Journal of Medical Genetics Part A, v. 140A, n. 23, p. 2587-2593, 2006Tradução . . Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/113374317/PDFSTART. Acesso em: 29 set. 2022.
    • APA

      Richieri-Costa, A., & Ribeiro, L. A. (2006). Holoprosencephaly-like phenotype: clinical and genetic perspectives. American Journal of Medical Genetics Part A, 140A( 23), 2587-2593. doi:10.1002/ajmg.a.31378
    • NLM

      Richieri-Costa A, Ribeiro LA. Holoprosencephaly-like phenotype: clinical and genetic perspectives [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2587-2593.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/113374317/PDFSTART
    • Vancouver

      Richieri-Costa A, Ribeiro LA. Holoprosencephaly-like phenotype: clinical and genetic perspectives [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2587-2593.[citado 2022 set. 29 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/113374317/PDFSTART
  • Source: Clinical Dysmorphology. Unidade: HRAC

    Subject: SÍNDROMES OROFACIODIGITAIS

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    • ABNT

      CASTRO, Carlos Henrique Bettoni Cruz de et al. Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia: a new syndrom. Clinical Dysmorphology, v. 14, n. 4, p. 197-201, 2005Tradução . . Acesso em: 29 set. 2022.
    • APA

      CASTRO, C. H. B. C. de, Freitas, P. Z., Antoneli, M. Z., Santiago, G., Ribeiro, L. A., & Richieri-Costa, A. (2005). Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia: a new syndrom. Clinical Dysmorphology, 14( 4), 197-201. doi:10.1097/00019605-200510000-00006
    • NLM

      CASTRO CHBC de, Freitas PZ, Antoneli MZ, Santiago G, Ribeiro LA, Richieri-Costa A. Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia: a new syndrom. Clinical Dysmorphology. 2005 ; 14( 4): 197-201.[citado 2022 set. 29 ]
    • Vancouver

      CASTRO CHBC de, Freitas PZ, Antoneli MZ, Santiago G, Ribeiro LA, Richieri-Costa A. Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia: a new syndrom. Clinical Dysmorphology. 2005 ; 14( 4): 197-201.[citado 2022 set. 29 ]
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES MÚLTIPLAS, HOLOPROSENCEFALIA

    DOIHow to cite
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    • ABNT

      RICHIERI-COSTA, Antonio e RIBEIRO, Lucilene Arilho. Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases. American Journal of Medical Genetics. Part A, v. 136, n. 4, p. 352-353, 2005Tradução . . Acesso em: 29 set. 2022.
    • APA

      Richieri-Costa, A., & Ribeiro, L. A. (2005). Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases. American Journal of Medical Genetics. Part A, 136( 4), 352-353. doi:10.1002/ajmg.a.30628
    • NLM

      Richieri-Costa A, Ribeiro LA. Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 352-353.[citado 2022 set. 29 ]
    • Vancouver

      Richieri-Costa A, Ribeiro LA. Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 352-353.[citado 2022 set. 29 ]
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES MÚLTIPLAS, DESENVOLVIMENTO FÍSICO, MAXILA

    DOIHow to cite
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    • ABNT

      RIBEIRO, Lucilene Arilho e RICHIERI-COSTA, Antonio. Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. American Journal of Medical Genetics. Part A, v. 136, n. 4, p. 346-347, 2005Tradução . . Acesso em: 29 set. 2022.
    • APA

      Ribeiro, L. A., & Richieri-Costa, A. (2005). Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. American Journal of Medical Genetics. Part A, 136( 4), 346-347. doi:10.1002/ajmg.a.30625
    • NLM

      Ribeiro LA, Richieri-Costa A. Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 346-347.[citado 2022 set. 29 ]
    • Vancouver

      Ribeiro LA, Richieri-Costa A. Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 346-347.[citado 2022 set. 29 ]
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subject: ANORMALIDADES MÚLTIPLAS

    DOIHow to cite
    A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
    • ABNT

      RIBEIRO, Lucilene Arilho e RICHIERI-COSTA, Antonio. Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation. American Journal of Medical Genetics. Part A, v. 136, n. 4, p. 348-349, 2005Tradução . . Acesso em: 29 set. 2022.
    • APA

      Ribeiro, L. A., & Richieri-Costa, A. (2005). Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation. American Journal of Medical Genetics. Part A, 136( 4), 348-349. doi:10.1002/ajmg.a.30626
    • NLM

      Ribeiro LA, Richieri-Costa A. Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 348-349.[citado 2022 set. 29 ]
    • Vancouver

      Ribeiro LA, Richieri-Costa A. Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 348-349.[citado 2022 set. 29 ]

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