ReP USP - Resultado da busca

Artigo de periodico
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? (2009)
Jehee, Fernanda Sarquis; Burin, Beatriz A.; Rocha, Kátia Maria da; Zechi-Ceide, Roseli Maria; Bueno, Daniela F.; Brito, Luciano; Souza, Josiane; Leal, Gabriela Ferraz; Richieri-Costa, Antonio; Alonso, Nivaldo; Otto, Paulo A ; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics. Part A. Unidades: HRAC, IB
Subjects: MALFORMAÇÕES, LÁBIO FISSURADO, PALATO
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ABNT
JEHEE, Fernanda Sarquis et al. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?. American Journal of Medical Genetics. Part A, v. 149A, n. 6, p. 1319-1322, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32849. Acesso em: 05 out. 2024.
APA
Jehee, F. S., Burin, B. A., Rocha, K. M. da, Zechi-Ceide, R. M., Bueno, D. F., Brito, L., et al. (2009). Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? American Journal of Medical Genetics. Part A, 149A( 6), 1319-1322. doi:10.1002/ajmg.a.32849
NLM
Jehee FS, Burin BA, Rocha KM da, Zechi-Ceide RM, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 6): 1319-1322.[citado 2024 out. 05 ] Available from: https://doi.org/10.1002/ajmg.a.32849
Vancouver
Jehee FS, Burin BA, Rocha KM da, Zechi-Ceide RM, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 6): 1319-1322.[citado 2024 out. 05 ] Available from: https://doi.org/10.1002/ajmg.a.32849
Artigo de periodico
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study (2004)
Passos-Bueno, Maria Rita ; Gaspar, Dinamar A.; Kamiya, Tânia Yoshico; Tescarollo, Graziela; Rabanéa, Daniel Saraiva; Richieri-Costa, Antonio; Alonso, Nivaldo; Araújo, Belmino
Source: The Cleft Palate-Craniofacial Journal. Unidades: IB, HRAC
Subjects: GENES, FISSURA LÁBIOPALATINA, GENÓTIPOS
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ABNT
PASSOS-BUENO, Maria Rita et al. Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal, v. 41, n. 4, p. 387-391, 2004Tradução . . Acesso em: 05 out. 2024.
APA
Passos-Bueno, M. R., Gaspar, D. A., Kamiya, T. Y., Tescarollo, G., Rabanéa, D. S., Richieri-Costa, A., et al. (2004). Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal, 41( 4), 387-391.
NLM
Passos-Bueno MR, Gaspar DA, Kamiya TY, Tescarollo G, Rabanéa DS, Richieri-Costa A, Alonso N, Araújo B. Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal. 2004 ; 41( 4): 387-391.[citado 2024 out. 05 ]
Vancouver
Passos-Bueno MR, Gaspar DA, Kamiya TY, Tescarollo G, Rabanéa DS, Richieri-Costa A, Alonso N, Araújo B. Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal. 2004 ; 41( 4): 387-391.[citado 2024 out. 05 ]
Artigo de periodico
High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes (2000)
Splendore, Alessandra; Silva, Elias Oliveira da; Alonso, Luís G.; Richieri-Costa, Antonio; Alonso, Nivaldo; Rosa, Alberto; Carakushansky, Gerson; Cavalcanti, Denise Pontes; Brunoni, Décio; Passos-Bueno, Maria Rita
Source: Human Mutation. Unidade: IB
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SPLENDORE, Alessandra et al. High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes. Human Mutation, v. 16, p. 315-322, 2000Tradução . . Disponível em: https://doi.org/10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h. Acesso em: 05 out. 2024.
APA
Splendore, A., Silva, E. O. da, Alonso, L. G., Richieri-Costa, A., Alonso, N., Rosa, A., et al. (2000). High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes. Human Mutation, 16, 315-322. doi:10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h
NLM
Splendore A, Silva EO da, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushansky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes [Internet]. Human Mutation. 2000 ; 16 315-322.[citado 2024 out. 05 ] Available from: https://doi.org/10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h
Vancouver
Splendore A, Silva EO da, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushansky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes [Internet]. Human Mutation. 2000 ; 16 315-322.[citado 2024 out. 05 ] Available from: https://doi.org/10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 05 out. 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 out. 05 ] 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 out. 05 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 05 out. 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 out. 05 ] 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 out. 05 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m

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