ReP USP - Resultado da busca

Trabalho de evento-resumo
Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome (2004)
Zechi-Ceide, R. M.; Guion-Almeida, Maria Leine; Kokitsu-Nakata, N. M.; Passos-Bueno, Maria Rita
Source: Resumo. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidades: HRAC, IB
Subjects: SÍNDROMES OROFACIODIGITAIS, MUTAÇÃO GENÉTICA
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ABNT
ZECHI-CEIDE, R. M. et al. Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome. 2004, Anais.. Toronto: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2004. . Acesso em: 02 maio 2024.
APA
Zechi-Ceide, R. M., Guion-Almeida, M. L., Kokitsu-Nakata, N. M., & Passos-Bueno, M. R. (2004). Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome. In Resumo. Toronto: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo.
NLM
Zechi-Ceide RM, Guion-Almeida ML, Kokitsu-Nakata NM, Passos-Bueno MR. Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome. Resumo. 2004 ;[citado 2024 maio 02 ]
Vancouver
Zechi-Ceide RM, Guion-Almeida ML, Kokitsu-Nakata NM, Passos-Bueno MR. Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome. Resumo. 2004 ;[citado 2024 maio 02 ]
Trabalho de evento-resumo periodico
A new form of autosomal dominant late onset spinal muscular atrophy (2001)
Bernardino, Andréa L. F.; Richieri-Costa, Antonio; Passos-Bueno, Maria Rita ; Cerqueira, A M P
Source: American Journal of Human Genetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidades: IB, HRAC
Assunto: ATROFIA MUSCULAR
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ABNT
BERNARDINO, Andréa L. F. et al. A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 02 maio 2024. , 2001
APA
Bernardino, A. L. F., Richieri-Costa, A., Passos-Bueno, M. R., & Cerqueira, A. M. P. (2001). A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo.
NLM
Bernardino ALF, Richieri-Costa A, Passos-Bueno MR, Cerqueira AMP. A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. 2001 ; 69( 4): 524.[citado 2024 maio 02 ]
Vancouver
Bernardino ALF, Richieri-Costa A, Passos-Bueno MR, Cerqueira AMP. A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. 2001 ; 69( 4): 524.[citado 2024 maio 02 ]
Trabalho de evento-resumo periodico
Global analysis of gene expression in inherited human craniosinostosis (2001)
Zorick, T. S.; Fernandes, A. Y.; Turma, P.; Matsushita, Hamilton; Zanini, Silvio Antonio; Palhares, A.; Passos-Bueno, Maria Rita
Source: American Journal of Human Genetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidades: IB, HRAC
Assunto: DOENÇAS HEREDITÁRIAS
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ABNT
ZORICK, T. S. et al. Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 02 maio 2024. , 2001
APA
Zorick, T. S., Fernandes, A. Y., Turma, P., Matsushita, H., Zanini, S. A., Palhares, A., & Passos-Bueno, M. R. (2001). Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo.
NLM
Zorick TS, Fernandes AY, Turma P, Matsushita H, Zanini SA, Palhares A, Passos-Bueno MR. Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. 2001 ; 69( 4): 454.[citado 2024 maio 02 ]
Vancouver
Zorick TS, Fernandes AY, Turma P, Matsushita H, Zanini SA, Palhares A, Passos-Bueno MR. Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. 2001 ; 69( 4): 454.[citado 2024 maio 02 ]
Trabalho de evento-resumo periodico
Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome (1999)
Splendore, A; Silva, E O; Alonso, L. G; Brunoni, Décio ; Alonso, Nivaldo ; Richieri-Costa, Antonio ; Cavalcanti, D; Carakushansky, Gerson; Zatz, Mayana ; Passos-Bueno, Maria Rita
Source: American Journal of Human Genetics. Conference titles: American Society of Human Genetics. Unidades: IB, HRAC
Assunto: GENÉTICA MÉDICA
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ABNT
SPLENDORE, A et al. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF. Acesso em: 02 maio 2024. , 1999
APA
Splendore, A., Silva, E. O., Alonso, L. G., Brunoni, D., Alonso, N., Richieri-Costa, A., et al. (1999). Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
NLM
Splendore A, Silva EO, Alonso LG, Brunoni D, Alonso N, Richieri-Costa A, Cavalcanti D, Carakushansky G, Zatz M, Passos-Bueno MR. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome [Internet]. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2024 maio 02 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
Vancouver
Splendore A, Silva EO, Alonso LG, Brunoni D, Alonso N, Richieri-Costa A, Cavalcanti D, Carakushansky G, Zatz M, Passos-Bueno MR. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome [Internet]. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2024 maio 02 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
Artigo de periodico
Speech/language findings in patients with Apert, Crouzon and Pfeiffer syndromes (1998)
Misquiatti, Andréa Regina N.; Abramides, Dagma Venturini Marques; Giacheti, Célia Maria; Feniman, Mariza Ribeiro; Passos-Bueno, Maria Rita ; Richieri-Costa, Antonio
Source: The Brazilian Journal of Dysmorphology and Speech-Hearing Disorders. Unidades: HRAC, FOB
Subjects: GENÉTICA, GENÉTICA MÉDICA
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ABNT
MISQUIATTI, Andréa Regina N. et al. Speech/language findings in patients with Apert, Crouzon and Pfeiffer syndromes. The Brazilian Journal of Dysmorphology and Speech-Hearing Disorders, v. 1, n. ja 1998, p. 29-35, 1998Tradução . . Acesso em: 02 maio 2024.
APA
Misquiatti, A. R. N., Abramides, D. V. M., Giacheti, C. M., Feniman, M. R., Passos-Bueno, M. R., & Richieri-Costa, A. (1998). Speech/language findings in patients with Apert, Crouzon and Pfeiffer syndromes. The Brazilian Journal of Dysmorphology and Speech-Hearing Disorders, 1( ja 1998), 29-35.
NLM
Misquiatti ARN, Abramides DVM, Giacheti CM, Feniman MR, Passos-Bueno MR, Richieri-Costa A. Speech/language findings in patients with Apert, Crouzon and Pfeiffer syndromes. The Brazilian Journal of Dysmorphology and Speech-Hearing Disorders. 1998 ; 1( ja 1998): 29-35.[citado 2024 maio 02 ]
Vancouver
Misquiatti ARN, Abramides DVM, Giacheti CM, Feniman MR, Passos-Bueno MR, Richieri-Costa A. Speech/language findings in patients with Apert, Crouzon and Pfeiffer syndromes. The Brazilian Journal of Dysmorphology and Speech-Hearing Disorders. 1998 ; 1( ja 1998): 29-35.[citado 2024 maio 02 ]
Artigo de periodico
Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses (1998)
Passos-Bueno, Maria Rita ; Sertié, Andréa L; Richieri-Costa, Antonio; Alonso, Luís G; Zatz, Mayana ; Alonso, Nivaldo; Brunoni, Decio; Ribeiro, Sandra F M
Source: American Journal of Medical Genetics. Unidades: IB, HRAC
Assunto: GENÉTICA MÉDICA
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ABNT
PASSOS-BUENO, Maria Rita et al. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, v. 78, p. 237-241, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m. Acesso em: 02 maio 2024.
APA
Passos-Bueno, M. R., Sertié, A. L., Richieri-Costa, A., Alonso, L. G., Zatz, M., Alonso, N., et al. (1998). Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, 78, 237-241. doi:10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
NLM
Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SFM. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [Internet]. American Journal of Medical Genetics. 1998 ; 78 237-241.[citado 2024 maio 02 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
Vancouver
Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SFM. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [Internet]. American Journal of Medical Genetics. 1998 ; 78 237-241.[citado 2024 maio 02 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
Artigo de periodico
Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? (1997)
Passos-Bueno, Maria Rita ; Sertié, Andréa Laurato; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidades: IB, HRAC
Subjects: SÍNDROMES OROFACIODIGITAIS, MUTAÇÃO, POLIMORFISMO
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ABNT
PASSOS-BUENO, Maria Rita e SERTIÉ, Andréa Laurato e RICHIERI-COSTA, Antonio. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?. American Journal of Medical Genetics, v. 71, n. 2, p. 243-245, 1997Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d. Acesso em: 02 maio 2024.
APA
Passos-Bueno, M. R., Sertié, A. L., & Richieri-Costa, A. (1997). Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? American Journal of Medical Genetics, 71( 2), 243-245. doi:10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
NLM
Passos-Bueno MR, Sertié AL, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 243-245.[citado 2024 maio 02 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
Vancouver
Passos-Bueno MR, Sertié AL, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 243-245.[citado 2024 maio 02 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
Trabalho de evento-resumo periodico
Screening of c934g and c937g mutations among patients with craniosynostosis reveals two apert patients not caused by any of these mutations (1996)
Passos-Bueno, Maria Rita ; Richieri-Costa, A; Otto, Paulo A ; Kok, F; Sertie, A L; Alonso, L; Brunoni, D; Ribeiro, S F M; Ferreira, Marcus Castro
Source: Brazilian Journal of Genetics = Revista Brasileira de Genetica. Conference titles: International Congress of Human Genetics. Unidades: IB, HRAC
Assunto: GENÉTICA MÉDICA
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ABNT
PASSOS-BUENO, Maria Rita et al. Screening of c934g and c937g mutations among patients with craniosynostosis reveals two apert patients not caused by any of these mutations. Brazilian Journal of Genetics = Revista Brasileira de Genetica. [S.l.]: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 02 maio 2024. , 1996
APA
Passos-Bueno, M. R., Richieri-Costa, A., Otto, P. A., Kok, F., Sertie, A. L., Alonso, L., et al. (1996). Screening of c934g and c937g mutations among patients with craniosynostosis reveals two apert patients not caused by any of these mutations. Brazilian Journal of Genetics = Revista Brasileira de Genetica. Instituto de Biociências, Universidade de São Paulo.
NLM
Passos-Bueno MR, Richieri-Costa A, Otto PA, Kok F, Sertie AL, Alonso L, Brunoni D, Ribeiro SFM, Ferreira MC. Screening of c934g and c937g mutations among patients with craniosynostosis reveals two apert patients not caused by any of these mutations. Brazilian Journal of Genetics = Revista Brasileira de Genetica. 1996 ;19( 2 suppl.): 246.[citado 2024 maio 02 ]
Vancouver
Passos-Bueno MR, Richieri-Costa A, Otto PA, Kok F, Sertie AL, Alonso L, Brunoni D, Ribeiro SFM, Ferreira MC. Screening of c934g and c937g mutations among patients with craniosynostosis reveals two apert patients not caused by any of these mutations. Brazilian Journal of Genetics = Revista Brasileira de Genetica. 1996 ;19( 2 suppl.): 246.[citado 2024 maio 02 ]

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