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Artigo de periodico
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects (2014)
Favaro, Francine Pinheiro; Alvizi, Lucas ; Zechi-Ceide, Roseli Maria; Bertola, Débora Romeo; Félix, Têmis Maria ; Souza, Josiane de; Raskin, Salmo; Twigg, Stephen R. F; Weiner, Andrea M. J; Armas, Pablo; Margarit, Ezequiel; Calcaterra, Nora B; Andersen, Gregers R; McGowan, Simon J; Wilkie, Andrew O. M; Richieri-Costa, Antonio; Almeida, Maria Leine Guion de; Passos-Bueno, Maria Rita
Source: American Journal of Human Genetics. Unidades: HRAC, IB, HRACF
Subjects: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MALFORMAÇÕES, FISSURA PALATINA, MODELOS ANIMAIS, GENOMAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FAVARO, Francine Pinheiro et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, v. 94, n. Ja 2014, p. 120-128, 2014Tradução . . Acesso em: 09 nov. 2024.
APA
Favaro, F. P., Alvizi, L., Zechi-Ceide, R. M., Bertola, D. R., Félix, T. M., Souza, J. de, et al. (2014). A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, 94( Ja 2014), 120-128.
NLM
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 nov. 09 ]
Vancouver
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 nov. 09 ]
Trabalho de evento-resumo
Array-CGH analysis in brazilians patients with holoprosencephaly (2013)
Gamba, Bruno Faulin; Tragante, V; Bessão, C. O; Rocha, Ana Laís Bignotto; Richieri-Costa, Antonio ; Rosenberg, Carla ; Bicudo, Lucilene Arilho Ribeiro
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRAC, IB, HRACF
Subjects: HOLOPROSENCEFALIA, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GAMBA, Bruno Faulin et al. Array-CGH analysis in brazilians patients with holoprosencephaly. 2013, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2013. Disponível em: https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf. Acesso em: 09 nov. 2024.
APA
Gamba, B. F., Tragante, V., Bessão, C. O., Rocha, A. L. B., Richieri-Costa, A., Rosenberg, C., & Bicudo, L. A. R. (2013). Array-CGH analysis in brazilians patients with holoprosencephaly. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf
NLM
Gamba BF, Tragante V, Bessão CO, Rocha ALB, Richieri-Costa A, Rosenberg C, Bicudo LAR. Array-CGH analysis in brazilians patients with holoprosencephaly [Internet]. Anais. 2013 ;[citado 2024 nov. 09 ] Available from: https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf
Vancouver
Gamba BF, Tragante V, Bessão CO, Rocha ALB, Richieri-Costa A, Rosenberg C, Bicudo LAR. Array-CGH analysis in brazilians patients with holoprosencephaly [Internet]. Anais. 2013 ;[citado 2024 nov. 09 ] Available from: https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf
Trabalho de evento-resumo
Genetical analysis in 148 brazilian cases with holoprosencephaly (2013)
Tragante, V.; Gamba, Bruno Faulin; Gaspar, Ana Luisa Camolezi ; Rocha, Ana Laís Bignotto; Bessão, C. O; Sandri, R. A.; Richieri-Costa, Antonio ; Bicudo, Lucilene Arilho Ribeiro
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRAC, HRACF
Subjects: HOLOPROSENCEFALIA, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
TRAGANTE, V. et al. Genetical analysis in 148 brazilian cases with holoprosencephaly. 2013, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2013. Disponível em: https://repositorio.usp.br/directbitstream/9e84d580-b151-4d72-9308-fbd543de14e6/2462109.pdf. Acesso em: 09 nov. 2024.
APA
Tragante, V., Gamba, B. F., Gaspar, A. L. C., Rocha, A. L. B., Bessão, C. O., Sandri, R. A., et al. (2013). Genetical analysis in 148 brazilian cases with holoprosencephaly. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/9e84d580-b151-4d72-9308-fbd543de14e6/2462109.pdf
NLM
Tragante V, Gamba BF, Gaspar ALC, Rocha ALB, Bessão CO, Sandri RA, Richieri-Costa A, Bicudo LAR. Genetical analysis in 148 brazilian cases with holoprosencephaly [Internet]. Anais. 2013 ;[citado 2024 nov. 09 ] Available from: https://repositorio.usp.br/directbitstream/9e84d580-b151-4d72-9308-fbd543de14e6/2462109.pdf
Vancouver
Tragante V, Gamba BF, Gaspar ALC, Rocha ALB, Bessão CO, Sandri RA, Richieri-Costa A, Bicudo LAR. Genetical analysis in 148 brazilian cases with holoprosencephaly [Internet]. Anais. 2013 ;[citado 2024 nov. 09 ] Available from: https://repositorio.usp.br/directbitstream/9e84d580-b151-4d72-9308-fbd543de14e6/2462109.pdf
Artigo de periodico
A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia (2013)
Zechi-Ceide, Roseli Maria ; Moura, Priscila Padilha; Raskin, Salmo; Richieri-Costa, Antonio ; Guion-Almeida, Maria Leine
Source: American Journal of Medical Genetics. Part A. Unidades: HRAC, HRACF
Subjects: SÍNDROME DE PIERRE ROBIN, MUTAÇÃO, ANORMALIDADES MÚLTIPLAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZECHI-CEIDE, Roseli Maria et al. A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. American Journal of Medical Genetics. Part A, v. 161, n. 8, p. 2088-2094, 2013Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36057. Acesso em: 09 nov. 2024.
APA
Zechi-Ceide, R. M., Moura, P. P., Raskin, S., Richieri-Costa, A., & Guion-Almeida, M. L. (2013). A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. American Journal of Medical Genetics. Part A, 161( 8), 2088-2094. doi:10.1002/ajmg.a.36057
NLM
Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 8): 2088-2094.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.36057
Vancouver
Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 8): 2088-2094.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.36057
Trabalho de evento-resumo
Attention deficit hyperactivity disorder in patients with velocardiofacial/del 22q11.2 syndrome (2013)
Ferro, Márcia Regina ; Abramides, Dagma Venturini Marques ; Maximino, Luciana Paula ; Richieri-Costa, Antonio
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: FOB, HRAC, HRACF
Subjects: ATENÇÃO, DEFICIT, HIPERATIVIDADE, INSUFICIÊNCIA VELOFARÍNGEA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FERRO, Márcia Regina et al. Attention deficit hyperactivity disorder in patients with velocardiofacial/del 22q11.2 syndrome. 2013, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2013. Disponível em: https://repositorio.usp.br/directbitstream/43688dea-c5ff-4d74-bf3b-1e702c0dc877/2507135.pdf. Acesso em: 09 nov. 2024.
APA
Ferro, M. R., Abramides, D. V. M., Maximino, L. P., & Richieri-Costa, A. (2013). Attention deficit hyperactivity disorder in patients with velocardiofacial/del 22q11.2 syndrome. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/43688dea-c5ff-4d74-bf3b-1e702c0dc877/2507135.pdf
NLM
Ferro MR, Abramides DVM, Maximino LP, Richieri-Costa A. Attention deficit hyperactivity disorder in patients with velocardiofacial/del 22q11.2 syndrome [Internet]. Anais. 2013 ;[citado 2024 nov. 09 ] Available from: https://repositorio.usp.br/directbitstream/43688dea-c5ff-4d74-bf3b-1e702c0dc877/2507135.pdf
Vancouver
Ferro MR, Abramides DVM, Maximino LP, Richieri-Costa A. Attention deficit hyperactivity disorder in patients with velocardiofacial/del 22q11.2 syndrome [Internet]. Anais. 2013 ;[citado 2024 nov. 09 ] Available from: https://repositorio.usp.br/directbitstream/43688dea-c5ff-4d74-bf3b-1e702c0dc877/2507135.pdf
Trabalho de evento-resumo
Phenotypic refinement of the mandibulofacial dysostosis Bauru type (2013)
Moura, Priscila Padilha; Richieri-Costa, Antonio ; Guion-Almeida, Maria Leine; Garib, Daniela Gamba ; Yatabe, Marília Sayako ; Ceide, Roseli Maria Zechi
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRAC, FOB, HRACF
Subjects: DISOSTOSE MANDIBULOFACIAL, FENÓTIPOS, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOURA, Priscila Padilha et al. Phenotypic refinement of the mandibulofacial dysostosis Bauru type. 2013, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2013. Disponível em: https://repositorio.usp.br/directbitstream/ffad1753-5808-49b4-9d1d-583034b0c0f4/2461351.pdf. Acesso em: 09 nov. 2024.
APA
Moura, P. P., Richieri-Costa, A., Guion-Almeida, M. L., Garib, D. G., Yatabe, M. S., & Ceide, R. M. Z. (2013). Phenotypic refinement of the mandibulofacial dysostosis Bauru type. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/ffad1753-5808-49b4-9d1d-583034b0c0f4/2461351.pdf
NLM
Moura PP, Richieri-Costa A, Guion-Almeida ML, Garib DG, Yatabe MS, Ceide RMZ. Phenotypic refinement of the mandibulofacial dysostosis Bauru type [Internet]. Anais. 2013 ;[citado 2024 nov. 09 ] Available from: https://repositorio.usp.br/directbitstream/ffad1753-5808-49b4-9d1d-583034b0c0f4/2461351.pdf
Vancouver
Moura PP, Richieri-Costa A, Guion-Almeida ML, Garib DG, Yatabe MS, Ceide RMZ. Phenotypic refinement of the mandibulofacial dysostosis Bauru type [Internet]. Anais. 2013 ;[citado 2024 nov. 09 ] Available from: https://repositorio.usp.br/directbitstream/ffad1753-5808-49b4-9d1d-583034b0c0f4/2461351.pdf
Artigo de periodico
Dental anomalies in Richieri-Costa-Pereira syndrome (2012)
Severini, Janete Mary Baaclini Galante; Dalben, Gisele da Silva ; Richieri-Costa, Antonio ; Ozawa, Terumi Okada
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. Unidades: HRAC, HRACF
Subjects: ANOMALIA DENTÁRIA, SÍNDROMES OROFACIODIGITAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SEVERINI, Janete Mary Baaclini Galante et al. Dental anomalies in Richieri-Costa-Pereira syndrome. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, v. 114, n. 1, p. 99-106, 2012Tradução . . Disponível em: https://doi.org/10.1016/j.oooo.2012.03.009. Acesso em: 09 nov. 2024.
APA
Severini, J. M. B. G., Dalben, G. da S., Richieri-Costa, A., & Ozawa, T. O. (2012). Dental anomalies in Richieri-Costa-Pereira syndrome. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 114( 1), 99-106. doi:10.1016/j.oooo.2012.03.009
NLM
Severini JMBG, Dalben G da S, Richieri-Costa A, Ozawa TO. Dental anomalies in Richieri-Costa-Pereira syndrome [Internet]. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 2012 ; 114( 1): 99-106.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1016/j.oooo.2012.03.009
Vancouver
Severini JMBG, Dalben G da S, Richieri-Costa A, Ozawa TO. Dental anomalies in Richieri-Costa-Pereira syndrome [Internet]. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 2012 ; 114( 1): 99-106.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1016/j.oooo.2012.03.009
Artigo de periodico
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome (2012)
Nakata, Nancy Mizue Kokitsu ; Petrin, Aline Lourenço; Heard, Jason Paul; Pittoli, Siulan Vendramini Paulovich ; Henkle, Laura E.; Santos, Daniela Vera Cruz dos; Murray, Jeffrey Clark; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidades: HRAC, HRACF
Subjects: GENÉTICA MÉDICA, ANORMALIDADES CROMOSSÔMICAS, HEREDITARIEDADE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NAKATA, Nancy Mizue Kokitsu et al. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. American Journal of Medical Genetics. Part A, v. 158A, n. 8, p. 2003-2008, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35454. Acesso em: 09 nov. 2024.
APA
Nakata, N. M. K., Petrin, A. L., Heard, J. P., Pittoli, S. V. P., Henkle, L. E., Santos, D. V. C. dos, et al. (2012). Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. American Journal of Medical Genetics. Part A, 158A( 8), 2003-2008. doi:10.1002/ajmg.a.35454
NLM
Nakata NMK, Petrin AL, Heard JP, Pittoli SVP, Henkle LE, Santos DVC dos, Murray JC, Richieri-Costa A. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome [Internet]. American Journal of Medical Genetics. Part A. 2012 ; 158A( 8): 2003-2008.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.35454
Vancouver
Nakata NMK, Petrin AL, Heard JP, Pittoli SVP, Henkle LE, Santos DVC dos, Murray JC, Richieri-Costa A. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome [Internet]. American Journal of Medical Genetics. Part A. 2012 ; 158A( 8): 2003-2008.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.35454
Trabalho de evento-resumo
Hearing findings in subjects with G-BBB syndrome (2011)
Cassab, Tatiana Vialôgo; Zorzetto, Neivo Luiz; Richieri-Costa, Antonio ; Zancheta, Sthela; Giacheti, Célia Maria
Source: Program of the Annual Meeting and Pre-Conference Symposium: the four dimensions of hemifacial microsomia care. Conference titles: Annual Meeting of the American Cleft Palate-Craniofacial Association. Unidades: HRACF, HRAC
Subjects: AUDIÇÃO, ANORMALIDADES CRANIOFACIAIS, MALFORMAÇÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CASSAB, Tatiana Vialôgo et al. Hearing findings in subjects with G-BBB syndrome. 2011, Anais.. Chapel Hill: American Cleft Palate-Craniofacial Association, 2011. . Acesso em: 09 nov. 2024.
APA
Cassab, T. V., Zorzetto, N. L., Richieri-Costa, A., Zancheta, S., & Giacheti, C. M. (2011). Hearing findings in subjects with G-BBB syndrome. In Program of the Annual Meeting and Pre-Conference Symposium: the four dimensions of hemifacial microsomia care. Chapel Hill: American Cleft Palate-Craniofacial Association.
NLM
Cassab TV, Zorzetto NL, Richieri-Costa A, Zancheta S, Giacheti CM. Hearing findings in subjects with G-BBB syndrome. Program of the Annual Meeting and Pre-Conference Symposium: the four dimensions of hemifacial microsomia care. 2011 ;[citado 2024 nov. 09 ]
Vancouver
Cassab TV, Zorzetto NL, Richieri-Costa A, Zancheta S, Giacheti CM. Hearing findings in subjects with G-BBB syndrome. Program of the Annual Meeting and Pre-Conference Symposium: the four dimensions of hemifacial microsomia care. 2011 ;[citado 2024 nov. 09 ]
Trabalho de evento-resumo
Hearing in frontonasal dysplasia (2011)
Antonelli, Melissa Zattoni; Miguel, Haline Coracine; Genaro, Kátia Flores; Zorzetto, Neivo Luiz; Richieri-Costa, Antonio
Source: Program of the Annual Meeting and Pre-Conference Symposium: the four dimensions of hemifacial microsomia care. Conference titles: Annual Meeting of the American Cleft Palate-Craniofacial Association. Unidades: HRAC, FOB, HRACF
Subjects: AUDIÇÃO, ANORMALIDADES CRANIOFACIAIS, FISSURA LÁBIOPALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ANTONELLI, Melissa Zattoni et al. Hearing in frontonasal dysplasia. 2011, Anais.. Chapel Hill: American Cleft Palate-Craniofacial Association, 2011. . Acesso em: 09 nov. 2024.
APA
Antonelli, M. Z., Miguel, H. C., Genaro, K. F., Zorzetto, N. L., & Richieri-Costa, A. (2011). Hearing in frontonasal dysplasia. In Program of the Annual Meeting and Pre-Conference Symposium: the four dimensions of hemifacial microsomia care. Chapel Hill: American Cleft Palate-Craniofacial Association.
NLM
Antonelli MZ, Miguel HC, Genaro KF, Zorzetto NL, Richieri-Costa A. Hearing in frontonasal dysplasia. Program of the Annual Meeting and Pre-Conference Symposium: the four dimensions of hemifacial microsomia care. 2011 ;[citado 2024 nov. 09 ]
Vancouver
Antonelli MZ, Miguel HC, Genaro KF, Zorzetto NL, Richieri-Costa A. Hearing in frontonasal dysplasia. Program of the Annual Meeting and Pre-Conference Symposium: the four dimensions of hemifacial microsomia care. 2011 ;[citado 2024 nov. 09 ]

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