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Artigo de periodico
A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation (2010)
Krepischi, Ana Cristina Victorino ; Rosenberg, Carla ; Costa, Sílvia S; Crolla, John, A.; Huang, Shuwen; Vianna-Morgante, Angela M
Source: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: GENÉTICA, DOENÇAS GENÉTICAS, RETARDO MENTAL
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ABNT
KREPISCHI, Ana Cristina Victorino et al. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation. American Journal of Medical Genetics Part A, v. 152A, n. 9, p. 2376-2378, 2010Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33554. Acesso em: 23 abr. 2024.
APA
Krepischi, A. C. V., Rosenberg, C., Costa, S. S., Crolla, J., Huang, S., & Vianna-Morgante, A. M. (2010). A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation. American Journal of Medical Genetics Part A, 152A( 9), 2376-2378. doi:10.1002/ajmg.a.33554
NLM
Krepischi ACV, Rosenberg C, Costa SS, Crolla J, Huang S, Vianna-Morgante AM. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 9): 2376-2378.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.33554
Vancouver
Krepischi ACV, Rosenberg C, Costa SS, Crolla J, Huang S, Vianna-Morgante AM. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 9): 2376-2378.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.33554
Artigo de periodico
Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case (2010)
Petrin, Aline L.; Giacheti, Célia M.; Maximino, Luciana Paula; Abramides, Dagma Venturini Marques; Zanchetta, Sthella; Rossi, Natalia F.; Richieri-Costa, Antônio; Murray, Jeffrey C.
Source: American Journal of Medical Genetics Part A. Unidades: FOB, HRAC
Subjects: GENÉTICA MÉDICA, GAGUEIRA
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ABNT
PETRIN, Aline L. et al. Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. American Journal of Medical Genetics Part A, v. 152A, n. 12, p. 3164-3172, 2010Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33749. Acesso em: 23 abr. 2024.
APA
Petrin, A. L., Giacheti, C. M., Maximino, L. P., Abramides, D. V. M., Zanchetta, S., Rossi, N. F., et al. (2010). Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. American Journal of Medical Genetics Part A, 152A( 12), 3164-3172. doi:10.1002/ajmg.a.33749
NLM
Petrin AL, Giacheti CM, Maximino LP, Abramides DVM, Zanchetta S, Rossi NF, Richieri-Costa A, Murray JC. Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 12): 3164-3172.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.33749
Vancouver
Petrin AL, Giacheti CM, Maximino LP, Abramides DVM, Zanchetta S, Rossi NF, Richieri-Costa A, Murray JC. Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 12): 3164-3172.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.33749
Artigo de periodico
Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion (2010)
D'Angelo, Carla Sustek; Oliveira, Mariana Angelozzi de; Castro, Cláudia Irene Emílio de; Koiffmann, Celia Priszkulnik
Source: American Journal of Medical Genetics Part A. Unidade: IB
Assunto: ANORMALIDADES CROMOSSÔMICAS
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ABNT
D'ANGELO, Carla Sustek et al. Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion. American Journal of Medical Genetics Part A, v. 152A, n. 12, p. 3197-3202, 2010Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33741. Acesso em: 23 abr. 2024.
APA
D'Angelo, C. S., Oliveira, M. A. de, Castro, C. I. E. de, & Koiffmann, C. P. (2010). Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion. American Journal of Medical Genetics Part A, 152A( 12), 3197-3202. doi:10.1002/ajmg.a.33741
NLM
D'Angelo CS, Oliveira MA de, Castro CIE de, Koiffmann CP. Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 12): 3197-3202.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.33741
Vancouver
D'Angelo CS, Oliveira MA de, Castro CIE de, Koiffmann CP. Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 12): 3197-3202.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.33741
Artigo de periodico
Possible new syndrome: left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child (2009)
Lamônica, Dionísia Aparecida Cusin; Abramides, Dagma Venturini Marques; Maximino, Luciana Paula; Gejão, Mariana G.; Silva, Greyce K. da; Ferreira, Amanda T.; Furlan, Renata H.; Giacheti, Célia Maria; Barros-Neto, Plínio A.; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics Part A. Unidades: FOB, HRAC
Subjects: RETARDO MENTAL, DISTÚRBIOS DA FALA, TRANSTORNOS DA LINGUAGEM
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ABNT
LAMÔNICA, Dionísia Aparecida Cusin et al. Possible new syndrome: left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child. American Journal of Medical Genetics Part A, v. 149A, n. 5, p. 1041-1045, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32787. Acesso em: 23 abr. 2024.
APA
Lamônica, D. A. C., Abramides, D. V. M., Maximino, L. P., Gejão, M. G., Silva, G. K. da, Ferreira, A. T., et al. (2009). Possible new syndrome: left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child. American Journal of Medical Genetics Part A, 149A( 5), 1041-1045. doi:10.1002/ajmg.a.32787
NLM
Lamônica DAC, Abramides DVM, Maximino LP, Gejão MG, Silva GK da, Ferreira AT, Furlan RH, Giacheti CM, Barros-Neto PA, Richieri-Costa A. Possible new syndrome: left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child [Internet]. American Journal of Medical Genetics Part A. 2009 ; 149A( 5): 1041-1045.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.32787
Vancouver
Lamônica DAC, Abramides DVM, Maximino LP, Gejão MG, Silva GK da, Ferreira AT, Furlan RH, Giacheti CM, Barros-Neto PA, Richieri-Costa A. Possible new syndrome: left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child [Internet]. American Journal of Medical Genetics Part A. 2009 ; 149A( 5): 1041-1045.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.32787
Artigo de periodico
Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: Association with polymorphisms in the MTHFR and MTRR genes in Brazilian children (2008)
Aléssio, AnaC. M.; Siqueira, Lúcia H.; Bydlowski, Sérgio P.; Höehr, Nelci F.; Annichino-Bizzacchi, Joyce M.
Source: American Journal of Medical Genetics Part A. Unidade: FM
Subjects: POLIMORFISMO, GENES, VITAMINA B12, GENÉTICA MÉDICA
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ABNT
ALÉSSIO, AnaC. M. et al. Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: Association with polymorphisms in the MTHFR and MTRR genes in Brazilian children. American Journal of Medical Genetics Part A, v. 146A, n. 20, p. 2598-2602, 2008Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32496. Acesso em: 23 abr. 2024.
APA
Aléssio, A. C. M., Siqueira, L. H., Bydlowski, S. P., Höehr, N. F., & Annichino-Bizzacchi, J. M. (2008). Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: Association with polymorphisms in the MTHFR and MTRR genes in Brazilian children. American Journal of Medical Genetics Part A, 146A( 20), 2598-2602. doi:10.1002/ajmg.a.32496
NLM
Aléssio ACM, Siqueira LH, Bydlowski SP, Höehr NF, Annichino-Bizzacchi JM. Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: Association with polymorphisms in the MTHFR and MTRR genes in Brazilian children [Internet]. American Journal of Medical Genetics Part A. 2008 ; 146A( 20): 2598-2602.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.32496
Vancouver
Aléssio ACM, Siqueira LH, Bydlowski SP, Höehr NF, Annichino-Bizzacchi JM. Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: Association with polymorphisms in the MTHFR and MTRR genes in Brazilian children [Internet]. American Journal of Medical Genetics Part A. 2008 ; 146A( 20): 2598-2602.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.32496
Artigo de periodico
A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27 (2008)
Santos, Neide F.; Secolin, Rodrigo; Brandão-Almeida, Iara L.; Silva, Marilza, S.; Torres, Fábio R.; Tsuneda, Simone S.; Guimarães, Catarina A.; Hage, Simone Rocha de Vasconcellos; Cendes, Fernando; Guerreiro, Marilsa M.; Lopes-Cendes, Iscia
Source: American Journal of Medical Genetics Part A. Unidade: FOB
Subjects: CÓRTEX CEREBRAL (ANORMALIDADES), GENÉTICA, MAPEAMENTO CROMOSSÔMICO
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ABNT
SANTOS, Neide F. et al. A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27. American Journal of Medical Genetics Part A, v. 146A, n. 9, p. 1151-1157, 2008Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32270. Acesso em: 23 abr. 2024.
APA
Santos, N. F., Secolin, R., Brandão-Almeida, I. L., Silva, M., Torres, F. R., Tsuneda, S. S., et al. (2008). A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27. American Journal of Medical Genetics Part A, 146A( 9), 1151-1157. doi:10.1002/ajmg.a.32270
NLM
Santos NF, Secolin R, Brandão-Almeida IL, Silva M, Torres FR, Tsuneda SS, Guimarães CA, Hage SR de V, Cendes F, Guerreiro MM, Lopes-Cendes I. A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27 [Internet]. American Journal of Medical Genetics Part A. 2008 ; 146A( 9): 1151-1157.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.32270
Vancouver
Santos NF, Secolin R, Brandão-Almeida IL, Silva M, Torres FR, Tsuneda SS, Guimarães CA, Hage SR de V, Cendes F, Guerreiro MM, Lopes-Cendes I. A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27 [Internet]. American Journal of Medical Genetics Part A. 2008 ; 146A( 9): 1151-1157.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.32270
Artigo de periodico
Studies with MMP9 gene promoter polymorphism and nonsyndromic cleft lip and palate (2007)
Letra, Ariadne; Silva, Rodrigo A. da; Menezes, Renato; Souza, Ana P. de; Almeida, Ana Lúcia Pompéia Fraga de; Sogayar, Mari Cleide ; Granjeiro, José Mauro
Source: American Journal of Medical Genetics Part A. Unidade: IQ
Subjects: POLIMORFISMO, BIOQUÍMICA
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ABNT
LETRA, Ariadne et al. Studies with MMP9 gene promoter polymorphism and nonsyndromic cleft lip and palate. American Journal of Medical Genetics Part A, v. 143A, n. 1, p. 89-91, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31492. Acesso em: 23 abr. 2024.
APA
Letra, A., Silva, R. A. da, Menezes, R., Souza, A. P. de, Almeida, A. L. P. F. de, Sogayar, M. C., & Granjeiro, J. M. (2007). Studies with MMP9 gene promoter polymorphism and nonsyndromic cleft lip and palate. American Journal of Medical Genetics Part A, 143A( 1), 89-91. doi:10.1002/ajmg.a.31492
NLM
Letra A, Silva RA da, Menezes R, Souza AP de, Almeida ALPF de, Sogayar MC, Granjeiro JM. Studies with MMP9 gene promoter polymorphism and nonsyndromic cleft lip and palate [Internet]. American Journal of Medical Genetics Part A. 2007 ; 143A( 1): 89-91.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31492
Vancouver
Letra A, Silva RA da, Menezes R, Souza AP de, Almeida ALPF de, Sogayar MC, Granjeiro JM. Studies with MMP9 gene promoter polymorphism and nonsyndromic cleft lip and palate [Internet]. American Journal of Medical Genetics Part A. 2007 ; 143A( 1): 89-91.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31492
Artigo de periodico
A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities (2007)
Giacheti, Célia Maria; Zanchetta, Sthella; Maranhe, Elizandra; Cassab, Tatiana Vialôgo; Abramides, Dagma Venturini Marques; Souza, Deise Helena; De Vitto, Luciana Paula Maximino; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics Part A. Unidade: FOB
Subjects: TRANSTORNOS DA LINGUAGEM, TRANSTORNOS DE APRENDIZAGEM, GENÉTICA MÉDICA, ANORMALIDADES CRANIOFACIAIS
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ABNT
GIACHETI, Célia Maria et al. A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities. American Journal of Medical Genetics Part A, v. 143A, n. 24, p. 3137-3139, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32024. Acesso em: 23 abr. 2024.
APA
Giacheti, C. M., Zanchetta, S., Maranhe, E., Cassab, T. V., Abramides, D. V. M., Souza, D. H., et al. (2007). A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities. American Journal of Medical Genetics Part A, 143A( 24), 3137-3139. doi:10.1002/ajmg.a.32024
NLM
Giacheti CM, Zanchetta S, Maranhe E, Cassab TV, Abramides DVM, Souza DH, De Vitto LPM, Richieri-Costa A. A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities [Internet]. American Journal of Medical Genetics Part A. 2007 ; 143A( 24): 3137-3139.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.32024
Vancouver
Giacheti CM, Zanchetta S, Maranhe E, Cassab TV, Abramides DVM, Souza DH, De Vitto LPM, Richieri-Costa A. A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities [Internet]. American Journal of Medical Genetics Part A. 2007 ; 143A( 24): 3137-3139.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.32024
Artigo de periodico
Molecular study in Brazilian cochlear implant recipients (2007)
Christiani, Thalita Vitachi; Alexandrino, Fabiana; Oliveira, Camila Andréa de; Amantini, Regina Célia Bortoleto; Bevilacqua, Maria Cecília; Costa Filho, Orozimbo Alves; Porto, Paulo; Sartorato, Edi Lúcia
Source: American Journal of Medical Genetics Part A. Unidades: FOB, HRAC
Subjects: IMPLANTE DA CÓCLEA, SURDEZ, MUTAÇÃO GENÉTICA
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ABNT
CHRISTIANI, Thalita Vitachi et al. Molecular study in Brazilian cochlear implant recipients. American Journal of Medical Genetics Part A, v. 143A, n. 14, p. 1580-1582, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31778. Acesso em: 23 abr. 2024.
APA
Christiani, T. V., Alexandrino, F., Oliveira, C. A. de, Amantini, R. C. B., Bevilacqua, M. C., Costa Filho, O. A., et al. (2007). Molecular study in Brazilian cochlear implant recipients. American Journal of Medical Genetics Part A, 143A( 14), 1580-1582. doi:10.1002/ajmg.a.31778
NLM
Christiani TV, Alexandrino F, Oliveira CA de, Amantini RCB, Bevilacqua MC, Costa Filho OA, Porto P, Sartorato EL. Molecular study in Brazilian cochlear implant recipients [Internet]. American Journal of Medical Genetics Part A. 2007 ; 143A( 14): 1580-1582.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31778
Vancouver
Christiani TV, Alexandrino F, Oliveira CA de, Amantini RCB, Bevilacqua MC, Costa Filho OA, Porto P, Sartorato EL. Molecular study in Brazilian cochlear implant recipients [Internet]. American Journal of Medical Genetics Part A. 2007 ; 143A( 14): 1580-1582.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31778
Artigo de periodico
A study of familial stuttering (2006)
Oliveira, Cristiane Moço Canhetti de; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics Part A. Unidade: HRAC
Subjects: GAGUEIRA, GENÉTICA MÉDICA
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ABNT
OLIVEIRA, Cristiane Moço Canhetti de e RICHIERI-COSTA, Antonio. A study of familial stuttering. American Journal of Medical Genetics Part A, v. 140A, n. 19, p. 2139-2141, 2006Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31320. Acesso em: 23 abr. 2024.
APA
Oliveira, C. M. C. de, & Richieri-Costa, A. (2006). A study of familial stuttering. American Journal of Medical Genetics Part A, 140A( 19), 2139-2141. doi:10.1002/ajmg.a.31320
NLM
Oliveira CMC de, Richieri-Costa A. A study of familial stuttering [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 19): 2139-2141.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31320
Vancouver
Oliveira CMC de, Richieri-Costa A. A study of familial stuttering [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 19): 2139-2141.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31320
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
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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: 23 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. 23 ] 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. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31377
Artigo de periodico
Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations (2006)
Carvalho, D. R.; Giuliani, L. R.; Simão, G. N.; Santos, Antônio Carlos dos; Pina-Neto, João Monteiro de
Source: American Journal of Medical Genetics Part A. Unidade: FMRP
Subjects: GENÉTICA, MALFORMAÇÕES
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ABNT
CARVALHO, D. R. et al. Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations. American Journal of Medical Genetics Part A, v. 140A, p. 1458-1462, 2006Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31255. Acesso em: 23 abr. 2024.
APA
Carvalho, D. R., Giuliani, L. R., Simão, G. N., Santos, A. C. dos, & Pina-Neto, J. M. de. (2006). Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations. American Journal of Medical Genetics Part A, 140A, 1458-1462. doi:10.1002/ajmg.a.31255
NLM
Carvalho DR, Giuliani LR, Simão GN, Santos AC dos, Pina-Neto JM de. Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A 1458-1462.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31255
Vancouver
Carvalho DR, Giuliani LR, Simão GN, Santos AC dos, Pina-Neto JM de. Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A 1458-1462.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31255
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
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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: 23 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. 23 ] 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. 23 ] 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: 23 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. 23 ] 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. 23 ] 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: 23 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. 23 ] 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. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31369
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: 23 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. 23 ] 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. 23 ] 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: 23 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. 23 ] 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. 23 ] Available from: https://doi.org/10.1002/ajmg.a.31370
Artigo de periodico
A family study of early-onset obsessive-compulsive disorder (2005)
Rosario-Campos, Maria Conceição do; Leckman, James F.; Curi, Mariana; Quatrano, Susan; Katsovitch, Lylia; Miguel, Euripedes C.; Pauls, David L.
Source: American Journal of Medical Genetics Part A. Unidade: FM
Subjects: TRANSTORNO OBSESSIVO-COMPULSIVO (GENÉTICA), INFÂNCIA, COMORBIDADE, TIQUES (GENÉTICA)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROSARIO-CAMPOS, Maria Conceição do et al. A family study of early-onset obsessive-compulsive disorder. American Journal of Medical Genetics Part A, v. 136B, n. 1, p. 92-97, 2005Tradução . . Disponível em: https://doi.org/10.1002/ajmg.b.30149. Acesso em: 23 abr. 2024.
APA
Rosario-Campos, M. C. do, Leckman, J. F., Curi, M., Quatrano, S., Katsovitch, L., Miguel, E. C., & Pauls, D. L. (2005). A family study of early-onset obsessive-compulsive disorder. American Journal of Medical Genetics Part A, 136B( 1), 92-97. doi:10.1002/ajmg.b.30149
NLM
Rosario-Campos MC do, Leckman JF, Curi M, Quatrano S, Katsovitch L, Miguel EC, Pauls DL. A family study of early-onset obsessive-compulsive disorder [Internet]. American Journal of Medical Genetics Part A. 2005 ; 136B( 1): 92-97.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.b.30149
Vancouver
Rosario-Campos MC do, Leckman JF, Curi M, Quatrano S, Katsovitch L, Miguel EC, Pauls DL. A family study of early-onset obsessive-compulsive disorder [Internet]. American Journal of Medical Genetics Part A. 2005 ; 136B( 1): 92-97.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.b.30149
Artigo de periodico
Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction (2004)
Zorick, Todd S.; Sertié, A.; Zatz, Mayana ; Passos-Bueno, Maria Rita ; Kleimann, Suzana; Rosemberg, Sérgio
Source: American Journal of Medical Genetics Part A. Unidades: IB, FM
Subjects: MAPEAMENTO CEREBRAL, NEUROPSIQUIATRIA, NEUROPSIQUIATRIA, RETARDO MENTAL SEVERO (GENÉTICA)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZORICK, Todd S. et al. Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction. American Journal of Medical Genetics Part A, v. 127A, n. 3, p. 321-323, 2004Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30009. Acesso em: 23 abr. 2024.
APA
Zorick, T. S., Sertié, A., Zatz, M., Passos-Bueno, M. R., Kleimann, S., & Rosemberg, S. (2004). Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction. American Journal of Medical Genetics Part A, 127A( 3), 321-323. doi:10.1002/ajmg.a.30009
NLM
Zorick TS, Sertié A, Zatz M, Passos-Bueno MR, Kleimann S, Rosemberg S. Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction [Internet]. American Journal of Medical Genetics Part A. 2004 ; 127A( 3): 321-323.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.30009
Vancouver
Zorick TS, Sertié A, Zatz M, Passos-Bueno MR, Kleimann S, Rosemberg S. Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction [Internet]. American Journal of Medical Genetics Part A. 2004 ; 127A( 3): 321-323.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.30009

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