ReP USP - Resultado da busca

Artigo de periodico
Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly (2012)
Roessler, E; Hu, Ping; Hong, Sung-Kook; Srivastava, Kshitij; Carrington, Blake; Sood, Raman; Petrykowska, Hanna; Elnitski, Laura; Ribeiro, Lucilene Arilho; Richieri-Costa, Antonio ; Feldman, Benjamin; Odenwald, Ward F.; Muenke, Maximilian
Source: PLOS ONE. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: https://doi.org/10.1371/journal.pone.0039026. Acesso em: 19 abr. 2024.
APA
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 2024 abr. 19 ] Available from: https://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 2024 abr. 19 ] Available from: https://doi.org/10.1371/journal.pone.0039026
Artigo de periodico
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort (2012)
Ribeiro, Lucilene Arilho; Roessler, Erich; Hu, Ping; Pineda-Alvarez, Daniel E.; Zhou, Nan; Jones, MaryPat; Chandrasekharappa, Settara; Richieri-Costa, Antonio ; Muenke, Maximilian
Source: Birth Defects Research. Part A, Clinical and Molecular Teratology.. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, POLIMORFISMO, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: https://doi.org/10.1002/bdra.23047. Acesso em: 19 abr. 2024.
APA
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 2024 abr. 19 ] Available from: https://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 2024 abr. 19 ] Available from: https://doi.org/10.1002/bdra.23047
Artigo de periodico
A novel heterozygous missense mutation G316D of SIX3 gene in a brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis (2011)
Ribeiro, Lucilene Arilho; Bertolacini, Claudia Danielli Pereira; Quiezi, Rodrigo Gonçalves; Richieri-Costa, Antonio
Source: Clinical Dysmorphology. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, PROTEÍNAS DO TECIDO NERVOSO, FENÓTIPOS, IMAGEM POR RESSONÂNCIA MAGNÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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 . . Disponível em: https://doi.org/10.1097/MCD.0b013e32834116ae. Acesso em: 19 abr. 2024.
APA
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 [Internet]. Clinical Dysmorphology. 2011 ; 20( 3): 160-162.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1097/MCD.0b013e32834116ae
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 [Internet]. Clinical Dysmorphology. 2011 ; 20( 3): 160-162.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1097/MCD.0b013e32834116ae
Artigo de periodico
Holoprosencephaly and holoprosencephaly-like phenotypes: review of facial and molecular findings in patients from a craniofacial hospital in Brazil (2010)
Richieri-Costa, Antonio; Ribeiro, Lucilene Arilho
Source: American Journal of Medical Genetics, Part C, Seminars in Medical Genetics. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, FENÓTIPOS, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: https://doi.org/10.1002/ajmg.c.30247. Acesso em: 19 abr. 2024.
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 2024 abr. 19 ] Available from: https://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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.c.30247
Artigo de periodico
Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients (2010)
Ribeiro, Lucilene Arilho; Quiezi, Rodrigo Gonçalves; Nascimento, Adriana; Bertolacini, Claudia Danielli Pereira; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics, Part A. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, RESSONÂNCIA MAGNÉTICA, SEQUENCIAMENTO GENÉTICO, EDUCAÇÃO INFANTIL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: https://doi.org/10.1002/ajmg.a.33466. Acesso em: 19 abr. 2024.
APA
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 2024 abr. 19 ] Available from: https://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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.33466
Artigo de periodico
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes (2009)
Zechi-Ceide, Roseli Maria; Ribeiro, Lucilene Arilho; Raskin, Salmo; Bertolacini, Claudia Danielli Pereira; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, FISSURA LÁBIOPALATINA BILATERAL, GENES, ANORMALIDADES MÚLTIPLAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
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: 19 abr. 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 abr. 19 ] 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 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.32844
Artigo de periodico
Variable phenotypic manifestations of a K44N mutation in the TGIF gene (2008)
Richieri-Costa, Antonio; Ribeiro, Lucilene Arilho
Source: Brain & Development. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
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: 19 abr. 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 abr. 19 ] 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 abr. 19 ] Available from: https://doi.org/10.1016/j.braindev.2007.07.012
Trabalho de evento-resumo
Holoprosencefalia-like e mutação no gene shh: relato de caso (2007)
Bertolacini, Claudia Danielli Pereira; Antoneli, Melissa Zattoni; Ribeiro, Lucilene Arilho; Richieri-Costa, Antonio
Source: Anais do VII Encontro Científico de Pós-Graduação HRAC-USP. Conference titles: Encontro Científico de Pós-Graduação HRAC-USP. Unidades: HRAC, HRACF
Subjects: HOLOPROSENCEFALIA, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
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: 19 abr. 2024.
APA
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 2024 abr. 19 ] 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 2024 abr. 19 ] Available from: https://repositorio.usp.br/directbitstream/06434b06-1f18-431e-96e8-ab4eb6596527/2969515.pdf
Artigo de periodico
Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum? (2006)
Richieri-Costa, Antonio; Ribeiro, Lucilene Arilho
Source: The Cleft Palate-Craniofacial Journal. Unidade: HRAC
Assunto: SÍNDROME DE GOLDENHAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
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: 19 abr. 2024.
APA
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 2024 abr. 19 ] 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 2024 abr. 19 ] Available from: http://cpcj.allenpress.com/pdfserv/10.1597%2F05-060.1
Artigo de periodico
SIX3 mutations with holoprosencephaly (2006)
Ribeiro, Lucilene Arilho; El-Jaick, Kenia B; Muenke, Maximilian; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics Part A. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, MUTAÇÃO GENÉTICA, FISSURA LÁBIOPALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RIBEIRO, Lucilene Arilho et al. SIX3 mutations with holoprosencephaly. American Journal of Medical Genetics Part A, v. 140A, n. 23, p. 2577-2583, 2006Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31377. Acesso em: 19 abr. 2024.
APA
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 [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2577-2583.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31377
Vancouver
Ribeiro LA, El-Jaick KB, Muenke M, Richieri-Costa A. SIX3 mutations with holoprosencephaly [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2577-2583.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31377
Artigo de periodico
Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype (2006)
Richieri-Costa, Antonio; Ribeiro, Lucilene Arilho
Source: American Journal of Medical Genetics Part A. Unidade: HRAC
Subjects: FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS, ANOMALIA DENTÁRIA, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
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: https://doi.org/10.1002/ajmg.a.31379. Acesso em: 19 abr. 2024.
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31379
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31379
Artigo de periodico
Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles (2006)
Antoneli, Melissa Zattoni; Zanchetta, Sthella; Zorzetto, Neivo Luiz; Ribeiro, Lucilene Arilho; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics Part A. Unidades: HRAC, HRACF
Subjects: HOLOPROSENCEFALIA, AUDIOLOGIA, AUDIOMETRIA DE RESPOSTAS EVOCADAS DE TRONCO CEREBRAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: https://doi.org/10.1002/ajmg.a.31296. Acesso em: 19 abr. 2024.
APA
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31296
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31296
Artigo de periodico
PTCH mutations in four brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI (2006)
Ribeiro, Lucilene Arilho; Murray, Jeffrey C.; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics Part A. Unidade: HRAC
Subjects: FISSURA LÁBIOPALATINA, ANORMALIDADES MÚLTIPLAS, HOLOPROSENCEFALIA, MUTAÇÃO, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
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: https://doi.org/10.1002/ajmg.a.31369. Acesso em: 19 abr. 2024.
APA
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31369
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31369
Artigo de periodico
Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype (2006)
Santiago, Giselda; Abramides, Dagma Venturini Marques; De Vitto, Luciana Paula Maximino; Ribeiro, Lucilene Arilho; Meira Júnior, Sílvio Garcia; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidades: FOB, HRAC
Subjects: AVALIAÇÃO DA LINGUAGEM, AVALIAÇÃO NEUROPSICOLÓGICA, HOLOPROSENCEFALIA, COGNIÇÃO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
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: https://doi.org/10.1002/ajmg.a.31311. Acesso em: 19 abr. 2024.
APA
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31311
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31311
Artigo de periodico
Holoprosencephaly-like phenotype: clinical and genetic perspectives (2006)
Richieri-Costa, Antonio; Ribeiro, Lucilene Arilho
Source: American Journal of Medical Genetics Part A. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, ANORMALIDADES MÚLTIPLAS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: https://doi.org/10.1002/ajmg.a.31378. Acesso em: 19 abr. 2024.
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31378
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31378
Artigo de periodico
GLI2 mutations in four brazilian patients: how wide is the phenotypic spectrum? (2006)
Rahimov, Fedik; Ribeiro, Lucilene Arilho; Miranda, Esiquiel de; Richieri-Costa, Antonio; Murray, Jeffrey C.
Source: American Journal of Medical Genetics Part A. Unidade: HRAC
Assunto: HOLOPROSENCEFALIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: https://doi.org/10.1002/ajmg.a.31370. Acesso em: 19 abr. 2024.
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31370
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 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.31370
Artigo de periodico
Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia: a new syndrome? (2005)
Castro, Carlos Henrique Bettoni Cruz de; Freitas, Patricia Zambonato ; Antoneli, Melissa Zattoni; Santiago, Giselda; Ribeiro, Lucilene Arilho ; Richieri-Costa, Antonio
Source: Clinical Dysmorphology. Unidades: HRAC, FOB, HRACF
Subjects: SÍNDROMES OROFACIODIGITAIS, VENTRÍCULOS CEREBRAIS, ANORMALIDADES MÚLTIPLAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CASTRO, Carlos Henrique Bettoni Cruz de et al. Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia: a new syndrome?. Clinical Dysmorphology, v. 14, n. 4, p. 197-201, 2005Tradução . . Disponível em: https://doi.org/10.1097/00019605-200510000-00006. Acesso em: 19 abr. 2024.
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 syndrome? 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 syndrome? [Internet]. Clinical Dysmorphology. 2005 ; 14( 4): 197-201.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1097/00019605-200510000-00006
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 syndrome? [Internet]. Clinical Dysmorphology. 2005 ; 14( 4): 197-201.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1097/00019605-200510000-00006
Artigo de periodico
Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases (2005)
Richieri-Costa, Antonio; Ribeiro, Lucilene Arilho
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANORMALIDADES MÚLTIPLAS, HOLOPROSENCEFALIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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 . . Disponível em: https://doi.org/10.1002/ajmg.a.30628. Acesso em: 19 abr. 2024.
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 [Internet]. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 352-353.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.30628
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 [Internet]. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 352-353.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.30628
Artigo de periodico
Single median maxillary central incisor, hypophyseal tumor, and SHH mutation (2005)
Ribeiro, Lucilene Arilho; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANORMALIDADES MÚLTIPLAS, DESENVOLVIMENTO FÍSICO, MAXILA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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 . . Disponível em: https://doi.org/10.1002/ajmg.a.30625. Acesso em: 19 abr. 2024.
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 [Internet]. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 346-347.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.30625
Vancouver
Ribeiro LA, Richieri-Costa A. Single median maxillary central incisor, hypophyseal tumor, and SHH mutation [Internet]. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 346-347.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.30625
Artigo de periodico
Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation (2005)
Ribeiro, Lucilene Arilho; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assunto: ANORMALIDADES MÚLTIPLAS
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 . . Disponível em: https://doi.org/10.1002/ajmg.a.30626. Acesso em: 19 abr. 2024.
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 [Internet]. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 348-349.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.30626
Vancouver
Ribeiro LA, Richieri-Costa A. Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation [Internet]. American Journal of Medical Genetics. Part A. 2005 ; 136( 4): 348-349.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.30626

USP Schools

ReP

Filtros

Departament

Authors

USP affiliated authors

Date published

Subjects

Source title

Indexado em

Non normalized affiliation