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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
Fonte: American Journal of Medical Genetics. Part A. Unidades: HRAC, IB
Assuntos: 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: 24 jul. 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 jul. 24 ] 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 jul. 24 ] Available from: https://doi.org/10.1002/ajmg.a.32849
Artigo de periodico
Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene (2008)
Ceide, Roseli Maria Zechi; Oliveira, Nélio Alessandro de Jesus; Guion-Almeida, Maria Leine; Antunes, Luis Fernando Benedito Bergami; Richieri-Costa, Antonio; Passos-Bueno, Maria Rita
Fonte: Clinical Dysmorphology. Unidades: HRAC, IB
Assuntos: ANORMALIDADES MÚLTIPLAS, FENÓTIPOS, GENES
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ABNT
CEIDE, Roseli Maria Zechi et al. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. Clinical Dysmorphology, v. 17, n. 3, p. 225-226, 2008Tradução . . Disponível em: https://doi.org/10.1097/mcd.0b013e3282fe1b8e. Acesso em: 24 jul. 2024.
APA
Ceide, R. M. Z., Oliveira, N. A. de J., Guion-Almeida, M. L., Antunes, L. F. B. B., Richieri-Costa, A., & Passos-Bueno, M. R. (2008). Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. Clinical Dysmorphology, 17( 3), 225-226. doi:10.1097/mcd.0b013e3282fe1b8e
NLM
Ceide RMZ, Oliveira NA de J, Guion-Almeida ML, Antunes LFBB, Richieri-Costa A, Passos-Bueno MR. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene [Internet]. Clinical Dysmorphology. 2008 ; 17( 3): 225-226.[citado 2024 jul. 24 ] Available from: https://doi.org/10.1097/mcd.0b013e3282fe1b8e
Vancouver
Ceide RMZ, Oliveira NA de J, Guion-Almeida ML, Antunes LFBB, Richieri-Costa A, Passos-Bueno MR. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene [Internet]. Clinical Dysmorphology. 2008 ; 17( 3): 225-226.[citado 2024 jul. 24 ] Available from: https://doi.org/10.1097/mcd.0b013e3282fe1b8e
Artigo de periodico
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome (2007)
Mazzeu, Juliana Forte; Pardono, Eliete; Vianna-Morgante, Angela M ; Richieri-Costa, Antonio; Kim, Chong Ae; Brunoni, Decio; Martelli, Lucia; Andrade, Carlos Eugenio F. de; Colin, Guilherme; Otto, Paulo A
Fonte: American Journal of Medical Genetics. Part A. Unidades: IB, HRAC, FM
Assuntos: GENÉTICA, DIAGNÓSTICO DIFERENCIAL
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ABNT
MAZZEU, Juliana Forte et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. American Journal of Medical Genetics. Part A, v. 143 A, n. 4, p. 320-325, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31592. Acesso em: 24 jul. 2024.
APA
Mazzeu, J. F., Pardono, E., Vianna-Morgante, A. M., Richieri-Costa, A., Kim, C. A., Brunoni, D., et al. (2007). Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. American Journal of Medical Genetics. Part A, 143 A( 4), 320-325. doi:10.1002/ajmg.a.31592
NLM
Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Kim CA, Brunoni D, Martelli L, Andrade CEF de, Colin G, Otto PA. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143 A( 4): 320-325.[citado 2024 jul. 24 ] Available from: https://doi.org/10.1002/ajmg.a.31592
Vancouver
Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Kim CA, Brunoni D, Martelli L, Andrade CEF de, Colin G, Otto PA. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143 A( 4): 320-325.[citado 2024 jul. 24 ] Available from: https://doi.org/10.1002/ajmg.a.31592
Artigo de periodico
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis (2004)
Nishimura, Agnes L.; Mitne Neto, Miguel; Silva, Helga C. A.; Richieri-Costa, Antonio; Middleton, Susan; Cascio, Duilio; Kok, Fernando; Oliveira, João R. M.; Gillingwater, Tom; Webb, Jeanette; Skehel, Paul; Zatz, Mayana
Fonte: American Journal of Human Genetics. Unidades: HRAC, IB
Assuntos: DOENÇAS NEUROMUSCULARES, DOENÇAS NEURODEGENERATIVAS
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ABNT
NISHIMURA, Agnes L. et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, v. No, n. 5, p. 822-831, 2004Tradução . . Acesso em: 24 jul. 2024.
APA
Nishimura, A. L., Mitne Neto, M., Silva, H. C. A., Richieri-Costa, A., Middleton, S., Cascio, D., et al. (2004). A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, No( 5), 822-831.
NLM
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics. 2004 ; No( 5): 822-831.[citado 2024 jul. 24 ]
Vancouver
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics. 2004 ; No( 5): 822-831.[citado 2024 jul. 24 ]
Trabalho de evento-resumo periodico
A novel locus for a late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13 (2004)
Nishimura, A. L.; Mitne Neto, Miguel; Silva, H. C. A.; Richieri-Costa, Antonio; Oliveira, J. R. M. (David Geffen Medical School - UCLA, Dept. of Neurology, Los Angeles, USA); Cascio, D.; Yamamoto, L. U.; Vainzof, Mariz ; Skehel, P.; Zatz, Mayana
Fonte: Neuromuscular Disorders. Nome do evento: International Congress of the World Muscle Society. Unidades: IB, HRAC
Assuntos: DISTROFIA MUSCULAR (CONGRESSOS), DOENÇAS GENÉTICAS (CONGRESSOS), DOENÇAS NEURODEGENERATIVAS (CONGRESSOS)
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ABNT
NISHIMURA, A. L. et al. A novel locus for a late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 24 jul. 2024. , 2004
APA
Nishimura, A. L., Mitne Neto, M., Silva, H. C. A., Richieri-Costa, A., Cascio, D., Yamamoto, L. U., et al. (2004). A novel locus for a late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo.
NLM
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Cascio D, Yamamoto LU, Vainzof M, Skehel P, Zatz M. A novel locus for a late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13. Neuromuscular Disorders. 2004 ; 14( 8-9): 563.[citado 2024 jul. 24 ]
Vancouver
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Cascio D, Yamamoto LU, Vainzof M, Skehel P, Zatz M. A novel locus for a late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13. Neuromuscular Disorders. 2004 ; 14( 8-9): 563.[citado 2024 jul. 24 ]
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
Fonte: The Cleft Palate-Craniofacial Journal. Unidades: IB, HRAC
Assuntos: 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: 24 jul. 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 jul. 24 ]
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 jul. 24 ]
Artigo de periodico
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis (2004)
Nishimura, Agnes Lumi; Mitne Neto, Miguel; Silva, Helga Cristina Almeida da; Richieri-Costa, Antonio; Middleton, Susan; Cascio, Duilio; Kok, Fernando; Oliveira, João Ricardo Mendes de; Gillingwater, T.; Webb, Jeanette; Skehel, Paul; Zatz, Mayana
Fonte: American Journal of Human Genetics. Unidades: HRAC, IB
Assuntos: DOENÇAS NEURODEGENERATIVAS, MUTAÇÃO GENÉTICA
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ABNT
NISHIMURA, Agnes Lumi et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, v. 75, n. 5, p. 822-831, 2004Tradução . . Disponível em: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf. Acesso em: 24 jul. 2024.
APA
Nishimura, A. L., Mitne Neto, M., Silva, H. C. A. da, Richieri-Costa, A., Middleton, S., Cascio, D., et al. (2004). A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, 75( 5), 822-831. Recuperado de http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
NLM
Nishimura AL, Mitne Neto M, Silva HCA da, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM de, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis [Internet]. American Journal of Human Genetics. 2004 ; 75( 5): 822-831.[citado 2024 jul. 24 ] Available from: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
Vancouver
Nishimura AL, Mitne Neto M, Silva HCA da, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM de, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis [Internet]. American Journal of Human Genetics. 2004 ; 75( 5): 822-831.[citado 2024 jul. 24 ] Available from: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
Artigo de periodico
Waardenburg syndrome: clinical differentiation between types I and II (2003)
Pardono, Eliete; Bever, Yolande van; Ende, Jenneke van den; Havrenne, Poti Chimetta; Iughetti, Paula; Maestrelli, Sylvia Regina Pedrosa; Costa Filho, Orozimbo Alves; Richieri-Costa, Antonio; Frota-Pessoa, Oswaldo; Otto, Paulo A
Fonte: American Journal of Medical Genetics. Unidades: FOB, HRAC, IB
Assunto: ANORMALIDADES CRANIOFACIAIS
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ABNT
PARDONO, Eliete et al. Waardenburg syndrome: clinical differentiation between types I and II. American Journal of Medical Genetics, v. 117A, n. 3, p. 223-235, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.10193. Acesso em: 24 jul. 2024.
APA
Pardono, E., Bever, Y. van, Ende, J. van den, Havrenne, P. C., Iughetti, P., Maestrelli, S. R. P., et al. (2003). Waardenburg syndrome: clinical differentiation between types I and II. American Journal of Medical Genetics, 117A( 3), 223-235. doi:10.1002/ajmg.a.10193
NLM
Pardono E, Bever Y van, Ende J van den, Havrenne PC, Iughetti P, Maestrelli SRP, Costa Filho OA, Richieri-Costa A, Frota-Pessoa O, Otto PA. Waardenburg syndrome: clinical differentiation between types I and II [Internet]. American Journal of Medical Genetics. 2003 ; 117A( 3): 223-235.[citado 2024 jul. 24 ] Available from: https://doi.org/10.1002/ajmg.a.10193
Vancouver
Pardono E, Bever Y van, Ende J van den, Havrenne PC, Iughetti P, Maestrelli SRP, Costa Filho OA, Richieri-Costa A, Frota-Pessoa O, Otto PA. Waardenburg syndrome: clinical differentiation between types I and II [Internet]. American Journal of Medical Genetics. 2003 ; 117A( 3): 223-235.[citado 2024 jul. 24 ] Available from: https://doi.org/10.1002/ajmg.a.10193
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
Fonte: American Journal of Medical Genetics. Unidades: IB, HRAC
Assuntos: 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: 24 jul. 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 jul. 24 ] 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 jul. 24 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d

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