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Trabalho de evento
Duplication of EYA1 causes Branchiootic Syndrome in a Brazilian family (2014)
Mingroni Netto, Regina Celia ; Dantas, V. G. L.; Freitas, E.L.; Moraes, A. M. S. M.; Braga, M. C. C.; Ramos, S. B.; Rosenberg, Carla ; Della-Rosa, V.A.
Source: Abstracts. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: PERDA AUDITIVA, MAPEAMENTO GENÉTICO, MUTAÇÃO GENÉTICA
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ABNT
MINGRONI NETTO, Regina Celia et al. Duplication of EYA1 causes Branchiootic Syndrome in a Brazilian family. 2014, Anais.. Boston: Instituto de Biociências, Universidade de São Paulo, 2014. Disponível em: http://www.ashg.org/2013meeting/abstracts/fulltext/f130123586.htm. Acesso em: 05 nov. 2024.
APA
Mingroni Netto, R. C., Dantas, V. G. L., Freitas, E. L., Moraes, A. M. S. M., Braga, M. C. C., Ramos, S. B., et al. (2014). Duplication of EYA1 causes Branchiootic Syndrome in a Brazilian family. In Abstracts. Boston: Instituto de Biociências, Universidade de São Paulo. Recuperado de http://www.ashg.org/2013meeting/abstracts/fulltext/f130123586.htm
NLM
Mingroni Netto RC, Dantas VGL, Freitas EL, Moraes AMSM, Braga MCC, Ramos SB, Rosenberg C, Della-Rosa VA. Duplication of EYA1 causes Branchiootic Syndrome in a Brazilian family [Internet]. Abstracts. 2014 ;[citado 2024 nov. 05 ] Available from: http://www.ashg.org/2013meeting/abstracts/fulltext/f130123586.htm
Vancouver
Mingroni Netto RC, Dantas VGL, Freitas EL, Moraes AMSM, Braga MCC, Ramos SB, Rosenberg C, Della-Rosa VA. Duplication of EYA1 causes Branchiootic Syndrome in a Brazilian family [Internet]. Abstracts. 2014 ;[citado 2024 nov. 05 ] Available from: http://www.ashg.org/2013meeting/abstracts/fulltext/f130123586.htm
Trabalho de evento-resumo
Complex phenotype associated with 17q21.31 microdeletion (2012)
Taylor, A. Pic; Wawruk, H. Dornelles; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino ; Safatle, H.P.N.; Ferrari, L.; Mazzeu, J.F.
Source: Posters: Cytogenetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: GENÉTICA MÉDICA, FENÓTIPOS
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ABNT
TAYLOR, A. Pic et al. Complex phenotype associated with 17q21.31 microdeletion. 2012, Anais.. São Francisco: Instituto de Biociências, Universidade de São Paulo, 2012. Disponível em: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf. Acesso em: 05 nov. 2024.
APA
Taylor, A. P., Wawruk, H. D., Rosenberg, C., Krepischi, A. C. V., Safatle, H. P. N., Ferrari, L., & Mazzeu, J. F. (2012). Complex phenotype associated with 17q21.31 microdeletion. In Posters: Cytogenetics. São Francisco: Instituto de Biociências, Universidade de São Paulo. Recuperado de http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
NLM
Taylor AP, Wawruk HD, Rosenberg C, Krepischi ACV, Safatle HPN, Ferrari L, Mazzeu JF. Complex phenotype associated with 17q21.31 microdeletion [Internet]. Posters: Cytogenetics. 2012 ;[citado 2024 nov. 05 ] Available from: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
Vancouver
Taylor AP, Wawruk HD, Rosenberg C, Krepischi ACV, Safatle HPN, Ferrari L, Mazzeu JF. Complex phenotype associated with 17q21.31 microdeletion [Internet]. Posters: Cytogenetics. 2012 ;[citado 2024 nov. 05 ] Available from: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
Trabalho de evento-resumo
Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing loss points to novel susceptibility loci (2012)
Freitas, E.L.; Uehara, D.T.; Dantas, V.G.L.; Silva, A.G.; Krepischi, Ana Cristina Victorino ; Mingroni Netto, Regina Celia ; Rosenberg, Carla
Source: Posters: Cytogenetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: PERDA AUDITIVA, GENÉTICA MÉDICA, CITOGENÉTICA
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ABNT
FREITAS, E.L. et al. Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing loss points to novel susceptibility loci. 2012, Anais.. São Francisco: Instituto de Biociências, Universidade de São Paulo, 2012. Disponível em: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf. Acesso em: 05 nov. 2024.
APA
Freitas, E. L., Uehara, D. T., Dantas, V. G. L., Silva, A. G., Krepischi, A. C. V., Mingroni Netto, R. C., & Rosenberg, C. (2012). Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing loss points to novel susceptibility loci. In Posters: Cytogenetics. São Francisco: Instituto de Biociências, Universidade de São Paulo. Recuperado de http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
NLM
Freitas EL, Uehara DT, Dantas VGL, Silva AG, Krepischi ACV, Mingroni Netto RC, Rosenberg C. Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing loss points to novel susceptibility loci [Internet]. Posters: Cytogenetics. 2012 ;[citado 2024 nov. 05 ] Available from: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
Vancouver
Freitas EL, Uehara DT, Dantas VGL, Silva AG, Krepischi ACV, Mingroni Netto RC, Rosenberg C. Whole-genome array-CGH screening in patients with autosomal dominant sensorineural hearing loss points to novel susceptibility loci [Internet]. Posters: Cytogenetics. 2012 ;[citado 2024 nov. 05 ] Available from: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
Trabalho de evento-resumo
Array-CGH analysis in patients with Goldenhar Syndrome (2012)
Sánchez, S.; Freitas, E.L.; Safatle, H.P.N.; Rosenberg, Carla ; Ferrari, L.; Oliveira, S.F.; Mazzeu, J.F.
Source: Posters: Cytogenetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: CROMOSSOMOS, GENÉTICA, DOENÇAS GENÉTICAS
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ABNT
SÁNCHEZ, S. et al. Array-CGH analysis in patients with Goldenhar Syndrome. 2012, Anais.. São Francisco: Instituto de Biociências, Universidade de São Paulo, 2012. Disponível em: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf. Acesso em: 05 nov. 2024.
APA
Sánchez, S., Freitas, E. L., Safatle, H. P. N., Rosenberg, C., Ferrari, L., Oliveira, S. F., & Mazzeu, J. F. (2012). Array-CGH analysis in patients with Goldenhar Syndrome. In Posters: Cytogenetics. São Francisco: Instituto de Biociências, Universidade de São Paulo. Recuperado de http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
NLM
Sánchez S, Freitas EL, Safatle HPN, Rosenberg C, Ferrari L, Oliveira SF, Mazzeu JF. Array-CGH analysis in patients with Goldenhar Syndrome [Internet]. Posters: Cytogenetics. 2012 ;[citado 2024 nov. 05 ] Available from: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
Vancouver
Sánchez S, Freitas EL, Safatle HPN, Rosenberg C, Ferrari L, Oliveira SF, Mazzeu JF. Array-CGH analysis in patients with Goldenhar Syndrome [Internet]. Posters: Cytogenetics. 2012 ;[citado 2024 nov. 05 ] Available from: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
Trabalho de evento-resumo
Association of rare copy number variations and risk for Alzheimer's disease (2012)
Villela, D.; Schlesinger, D.; Suemoto, Claudia Kimie; Grinberg, Lea Tenenholz; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: Posters: Cytogenetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidades: IB, FM
Subjects: DOENÇA DE ALZHEIMER, DOENÇAS NEURODEGENERATIVAS, GENÉTICA MÉDICA
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ABNT
VILLELA, D. et al. Association of rare copy number variations and risk for Alzheimer's disease. 2012, Anais.. São Francisco: Instituto de Biociências, Universidade de São Paulo, 2012. Disponível em: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf. Acesso em: 05 nov. 2024.
APA
Villela, D., Schlesinger, D., Suemoto, C. K., Grinberg, L. T., Krepischi, A. C. V., & Rosenberg, C. (2012). Association of rare copy number variations and risk for Alzheimer's disease. In Posters: Cytogenetics. São Francisco: Instituto de Biociências, Universidade de São Paulo. Recuperado de http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
NLM
Villela D, Schlesinger D, Suemoto CK, Grinberg LT, Krepischi ACV, Rosenberg C. Association of rare copy number variations and risk for Alzheimer's disease [Internet]. Posters: Cytogenetics. 2012 ;[citado 2024 nov. 05 ] Available from: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
Vancouver
Villela D, Schlesinger D, Suemoto CK, Grinberg LT, Krepischi ACV, Rosenberg C. Association of rare copy number variations and risk for Alzheimer's disease [Internet]. Posters: Cytogenetics. 2012 ;[citado 2024 nov. 05 ] Available from: http://www.ashg.org/2012meeting/pdf/38731_poster_complete.pdf
Trabalho de evento-resumo
Myostatin expression in different mice models for neuromuscular disorders (2010)
Zilbersztajn-Gotlieb, Dinorah; Ayub-Guerrieri, Danielle; Onofre-Oliveira, P C G; Martins-Machado, P; Santos, A F; Martins-Bach, A. B.; Vainzof, Mariz
Source: Poster Abstracts. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: MODELOS ANIMAIS DE DOENÇAS, DOENÇAS NEUROMUSCULARES
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ABNT
ZILBERSZTAJN-GOTLIEB, Dinorah et al. Myostatin expression in different mice models for neuromuscular disorders. 2010, Anais.. Washington: Instituto de Biociências, Universidade de São Paulo, 2010. . Acesso em: 05 nov. 2024.
APA
Zilbersztajn-Gotlieb, D., Ayub-Guerrieri, D., Onofre-Oliveira, P. C. G., Martins-Machado, P., Santos, A. F., Martins-Bach, A. B., & Vainzof, M. (2010). Myostatin expression in different mice models for neuromuscular disorders. In Poster Abstracts. Washington: Instituto de Biociências, Universidade de São Paulo.
NLM
Zilbersztajn-Gotlieb D, Ayub-Guerrieri D, Onofre-Oliveira PCG, Martins-Machado P, Santos AF, Martins-Bach AB, Vainzof M. Myostatin expression in different mice models for neuromuscular disorders. Poster Abstracts. 2010 ;[citado 2024 nov. 05 ]
Vancouver
Zilbersztajn-Gotlieb D, Ayub-Guerrieri D, Onofre-Oliveira PCG, Martins-Machado P, Santos AF, Martins-Bach AB, Vainzof M. Myostatin expression in different mice models for neuromuscular disorders. Poster Abstracts. 2010 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Potential of murine bone-marrow mesenchymal stem cells (BM-MSC) in treatment of muscular dystrophy (2010)
Onofre-Oliveira, P.; Martins-Machado, P.; Ayub-Guerrieri, Danielle; Zilbersztajn-Gotlieb, Dinorah; Santos, A; Vainzof, Mariz
Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: CÉLULAS-TRONCO, MEDULA ÓSSEA, DISTROFIA MUSCULAR
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ABNT
ONOFRE-OLIVEIRA, P. et al. Potential of murine bone-marrow mesenchymal stem cells (BM-MSC) in treatment of muscular dystrophy. 2010, Anais.. Washington: Instituto de Biociências, Universidade de São Paulo, 2010. . Acesso em: 05 nov. 2024.
APA
Onofre-Oliveira, P., Martins-Machado, P., Ayub-Guerrieri, D., Zilbersztajn-Gotlieb, D., Santos, A., & Vainzof, M. (2010). Potential of murine bone-marrow mesenchymal stem cells (BM-MSC) in treatment of muscular dystrophy. In . Washington: Instituto de Biociências, Universidade de São Paulo.
NLM
Onofre-Oliveira P, Martins-Machado P, Ayub-Guerrieri D, Zilbersztajn-Gotlieb D, Santos A, Vainzof M. Potential of murine bone-marrow mesenchymal stem cells (BM-MSC) in treatment of muscular dystrophy. 2010 ;[citado 2024 nov. 05 ]
Vancouver
Onofre-Oliveira P, Martins-Machado P, Ayub-Guerrieri D, Zilbersztajn-Gotlieb D, Santos A, Vainzof M. Potential of murine bone-marrow mesenchymal stem cells (BM-MSC) in treatment of muscular dystrophy. 2010 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndrome (2010)
Mazzeu, Juliana Forte; Zhang, Feng; Carvalho, C M; Krepischi, Ana Cristina Victorino ; Yatsenko, S.; Pardono, Eliete; Otto, Paulo A ; Rosenberg, Carla ; Lupsski, J.; Vianna-Morgante, Angela M
Source: Poster Abstracts. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assunto: DOENÇAS GENÉTICAS
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ABNT
MAZZEU, Juliana Forte et al. Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndrome. 2010, Anais.. Washingtom, DC: Instituto de Biociências, Universidade de São Paulo, 2010. . Acesso em: 05 nov. 2024.
APA
Mazzeu, J. F., Zhang, F., Carvalho, C. M., Krepischi, A. C. V., Yatsenko, S., Pardono, E., et al. (2010). Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndrome. In Poster Abstracts. Washingtom, DC: Instituto de Biociências, Universidade de São Paulo.
NLM
Mazzeu JF, Zhang F, Carvalho CM, Krepischi ACV, Yatsenko S, Pardono E, Otto PA, Rosenberg C, Lupsski J, Vianna-Morgante AM. Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndrome. Poster Abstracts. 2010 ;[citado 2024 nov. 05 ]
Vancouver
Mazzeu JF, Zhang F, Carvalho CM, Krepischi ACV, Yatsenko S, Pardono E, Otto PA, Rosenberg C, Lupsski J, Vianna-Morgante AM. Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndrome. Poster Abstracts. 2010 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Variability in heritability estimates as a confounding effect for association studies in nonsyndromic cleft lip and palate in Brazilian populations (2010)
Passos-Bueno, Maria Rita ; Brito, Luiz Alves de; Cruz, L A; Aguena, Meire; Kobayashi, L. B.; Bueno, Daniela Franco; Franco, D; Mendonça, A; Alonso, Nivaldo; Bertola, Débora Romeo; Otto, Paulo A
Source: Poster Abstracts. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidades: IB, FM
Subjects: LÁBIO FISSURADO, GENÉTICA
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ABNT
PASSOS-BUENO, Maria Rita et al. Variability in heritability estimates as a confounding effect for association studies in nonsyndromic cleft lip and palate in Brazilian populations. 2010, Anais.. Washingtom, DC: Instituto de Biociências, Universidade de São Paulo, 2010. . Acesso em: 05 nov. 2024.
APA
Passos-Bueno, M. R., Brito, L. A. de, Cruz, L. A., Aguena, M., Kobayashi, L. B., Bueno, D. F., et al. (2010). Variability in heritability estimates as a confounding effect for association studies in nonsyndromic cleft lip and palate in Brazilian populations. In Poster Abstracts. Washingtom, DC: Instituto de Biociências, Universidade de São Paulo.
NLM
Passos-Bueno MR, Brito LA de, Cruz LA, Aguena M, Kobayashi LB, Bueno DF, Franco D, Mendonça A, Alonso N, Bertola DR, Otto PA. Variability in heritability estimates as a confounding effect for association studies in nonsyndromic cleft lip and palate in Brazilian populations. Poster Abstracts. 2010 ;[citado 2024 nov. 05 ]
Vancouver
Passos-Bueno MR, Brito LA de, Cruz LA, Aguena M, Kobayashi LB, Bueno DF, Franco D, Mendonça A, Alonso N, Bertola DR, Otto PA. Variability in heritability estimates as a confounding effect for association studies in nonsyndromic cleft lip and palate in Brazilian populations. Poster Abstracts. 2010 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Duplication restricted to ICR2 (KCNQ1, KCNQ1OT1 genes) at 11p15 segregating in a family with five children affected by Silver-Russel syndrome (2008)
Vianna-Morgante, Angela M ; Bonaldi, A.; Honjo, Rachel Sayuri; Bertola, Débora Romeo; Albano, Lilian Maria José; Furquim, I. M.; Kim, C. A.; Mazzeu, Juliana Forte
Source: Resumo. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assunto: ANORMALIDADES CROMOSSÔMICAS
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ABNT
VIANNA-MORGANTE, Angela M et al. Duplication restricted to ICR2 (KCNQ1, KCNQ1OT1 genes) at 11p15 segregating in a family with five children affected by Silver-Russel syndrome. 2008, Anais.. Philadelphia: Instituto de Biociências, Universidade de São Paulo, 2008. . Acesso em: 05 nov. 2024.
APA
Vianna-Morgante, A. M., Bonaldi, A., Honjo, R. S., Bertola, D. R., Albano, L. M. J., Furquim, I. M., et al. (2008). Duplication restricted to ICR2 (KCNQ1, KCNQ1OT1 genes) at 11p15 segregating in a family with five children affected by Silver-Russel syndrome. In Resumo. Philadelphia: Instituto de Biociências, Universidade de São Paulo.
NLM
Vianna-Morgante AM, Bonaldi A, Honjo RS, Bertola DR, Albano LMJ, Furquim IM, Kim CA, Mazzeu JF. Duplication restricted to ICR2 (KCNQ1, KCNQ1OT1 genes) at 11p15 segregating in a family with five children affected by Silver-Russel syndrome. Resumo. 2008 ;[citado 2024 nov. 05 ]
Vancouver
Vianna-Morgante AM, Bonaldi A, Honjo RS, Bertola DR, Albano LMJ, Furquim IM, Kim CA, Mazzeu JF. Duplication restricted to ICR2 (KCNQ1, KCNQ1OT1 genes) at 11p15 segregating in a family with five children affected by Silver-Russel syndrome. Resumo. 2008 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Is autosomal recessive deafness associated to oculocutaneous albinism a "coincidence syndrome"? (2005)
Lezirovitz, Karina; Nicastro, F. S.; Pardono, Eliete; Abreu-Silva, Ronaldo Serafim; Batissoco, Ana Carla; Neustein, Isaac; Spinelli, M.; Mingroni Netto, Regina Celia
Source: Abstract. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assunto: MUTAÇÃO GENÉTICA
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ABNT
LEZIROVITZ, Karina et al. Is autosomal recessive deafness associated to oculocutaneous albinism a "coincidence syndrome"? 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 05 nov. 2024.
APA
Lezirovitz, K., Nicastro, F. S., Pardono, E., Abreu-Silva, R. S., Batissoco, A. C., Neustein, I., et al. (2005). Is autosomal recessive deafness associated to oculocutaneous albinism a "coincidence syndrome"? In Abstract. Salt Lake City: Instituto de Biociências, Universidade de São Paulo.
NLM
Lezirovitz K, Nicastro FS, Pardono E, Abreu-Silva RS, Batissoco AC, Neustein I, Spinelli M, Mingroni Netto RC. Is autosomal recessive deafness associated to oculocutaneous albinism a "coincidence syndrome"? Abstract. 2005 ;[citado 2024 nov. 05 ]
Vancouver
Lezirovitz K, Nicastro FS, Pardono E, Abreu-Silva RS, Batissoco AC, Neustein I, Spinelli M, Mingroni Netto RC. Is autosomal recessive deafness associated to oculocutaneous albinism a "coincidence syndrome"? Abstract. 2005 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene (2005)
Passos-Bueno, Maria Rita ; Poerner, F.; Masotti, C; Oliveira, K.; Zechi-Ceide, Roseli Maria; Guion-Almeida, Maria Leine; Splendore, Alessandra; Freitas, R. S.
Source: Poster. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidades: IB, HRAC
Subjects: CROMOSSOMOS (ALTERAÇÃO), MALFORMAÇÕES, SÍNDROMES OROFACIODIGITAIS
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ABNT
PASSOS-BUENO, Maria Rita et al. Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 05 nov. 2024.
APA
Passos-Bueno, M. R., Poerner, F., Masotti, C., Oliveira, K., Zechi-Ceide, R. M., Guion-Almeida, M. L., et al. (2005). Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. In Poster. Salt Lake City: Instituto de Biociências, Universidade de São Paulo.
NLM
Passos-Bueno MR, Poerner F, Masotti C, Oliveira K, Zechi-Ceide RM, Guion-Almeida ML, Splendore A, Freitas RS. Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. Poster. 2005 ;[citado 2024 nov. 05 ]
Vancouver
Passos-Bueno MR, Poerner F, Masotti C, Oliveira K, Zechi-Ceide RM, Guion-Almeida ML, Splendore A, Freitas RS. Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. Poster. 2005 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Ring chromosome syndrome: report of 12 cases (2005)
Vasconcelos, B.; Albano, Lilian Maria José; Castro, C. I. E.; Bertola, Débora Romeo; Sbruzzi, I. C.; Koiffmann, Celia Priszkulnik ; Kim, C. A.
Source: Poster. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: ANORMALIDADES CROMOSSÔMICAS, MALFORMAÇÕES
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ABNT
VASCONCELOS, B. et al. Ring chromosome syndrome: report of 12 cases. 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 05 nov. 2024.
APA
Vasconcelos, B., Albano, L. M. J., Castro, C. I. E., Bertola, D. R., Sbruzzi, I. C., Koiffmann, C. P., & Kim, C. A. (2005). Ring chromosome syndrome: report of 12 cases. In Poster. Salt Lake City: Instituto de Biociências, Universidade de São Paulo.
NLM
Vasconcelos B, Albano LMJ, Castro CIE, Bertola DR, Sbruzzi IC, Koiffmann CP, Kim CA. Ring chromosome syndrome: report of 12 cases. Poster. 2005 ;[citado 2024 nov. 05 ]
Vancouver
Vasconcelos B, Albano LMJ, Castro CIE, Bertola DR, Sbruzzi IC, Koiffmann CP, Kim CA. Ring chromosome syndrome: report of 12 cases. Poster. 2005 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Endostatin T48 variant has an impaired affinity to basement membrane components (2005)
Suzuki, Oscar T.; Tu, H.; Pihlajaniemi, T.; Godoi, P. H.; Oliva, Glaucius ; Olsen, Bjørn Reino; Passos-Bueno, Maria Rita
Source: Poster. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidades: IFSC, IB
Subjects: FÁRMACOS, GENÉTICA MÉDICA, ANORMALIDADES CROMOSSÔMICAS
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ABNT
SUZUKI, Oscar T. et al. Endostatin T48 variant has an impaired affinity to basement membrane components. 2005, Anais.. Salt Lake City: Instituto de Física de São Carlos, Universidade de São Paulo, 2005. . Acesso em: 05 nov. 2024.
APA
Suzuki, O. T., Tu, H., Pihlajaniemi, T., Godoi, P. H., Oliva, G., Olsen, B. R., & Passos-Bueno, M. R. (2005). Endostatin T48 variant has an impaired affinity to basement membrane components. In Poster. Salt Lake City: Instituto de Física de São Carlos, Universidade de São Paulo.
NLM
Suzuki OT, Tu H, Pihlajaniemi T, Godoi PH, Oliva G, Olsen BR, Passos-Bueno MR. Endostatin T48 variant has an impaired affinity to basement membrane components. Poster. 2005 ;[citado 2024 nov. 05 ]
Vancouver
Suzuki OT, Tu H, Pihlajaniemi T, Godoi PH, Oliva G, Olsen BR, Passos-Bueno MR. Endostatin T48 variant has an impaired affinity to basement membrane components. Poster. 2005 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Prader-Willi-Like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems (2005)
D'Angelo, Carla Sustek; Paz, José A. da; Kim, Chong A.; Bertola, Débora R.; Castro, Cláudia Irene Emílio de; Varela, Monica Castro; Koiffmann, Celia Priszkulnik
Source: Abstracts. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: OBESIDADE, ANORMALIDADES CROMOSSÔMICAS, RETARDO MENTAL
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ABNT
D'ANGELO, Carla Sustek et al. Prader-Willi-Like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 05 nov. 2024.
APA
D'Angelo, C. S., Paz, J. A. da, Kim, C. A., Bertola, D. R., Castro, C. I. E. de, Varela, M. C., & Koiffmann, C. P. (2005). Prader-Willi-Like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. In Abstracts. Salt Lake City: Instituto de Biociências, Universidade de São Paulo.
NLM
D'Angelo CS, Paz JA da, Kim CA, Bertola DR, Castro CIE de, Varela MC, Koiffmann CP. Prader-Willi-Like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Abstracts. 2005 ;[citado 2024 nov. 05 ]
Vancouver
D'Angelo CS, Paz JA da, Kim CA, Bertola DR, Castro CIE de, Varela MC, Koiffmann CP. Prader-Willi-Like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Abstracts. 2005 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Cranioectodermal dysplasia: hepatic manifestations in two unrelated children (2005)
Gonzalez, Claudette Hajaj; Utagawa, Claudia Yamada; Zannon-Collange, N.; Passos-Bueno, Maria Rita ; Sarquis-Jahee, F.
Source: Abstract. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, MALFORMAÇÕES, ANOMALIA CRANIOFACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GONZALEZ, Claudette Hajaj et al. Cranioectodermal dysplasia: hepatic manifestations in two unrelated children. 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 05 nov. 2024.
APA
Gonzalez, C. H., Utagawa, C. Y., Zannon-Collange, N., Passos-Bueno, M. R., & Sarquis-Jahee, F. (2005). Cranioectodermal dysplasia: hepatic manifestations in two unrelated children. In Abstract. Salt Lake City: Instituto de Biociências, Universidade de São Paulo.
NLM
Gonzalez CH, Utagawa CY, Zannon-Collange N, Passos-Bueno MR, Sarquis-Jahee F. Cranioectodermal dysplasia: hepatic manifestations in two unrelated children. Abstract. 2005 ;[citado 2024 nov. 05 ]
Vancouver
Gonzalez CH, Utagawa CY, Zannon-Collange N, Passos-Bueno MR, Sarquis-Jahee F. Cranioectodermal dysplasia: hepatic manifestations in two unrelated children. Abstract. 2005 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Sib-pair analysis in Brazilian families with non syndromic cleft lip with or without cleft palate (2005)
Poerner, F.; Bicalho, Marcelo; Hiekkalinna, T.; Passos-Bueno, Maria Rita
Source: Poster. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: FISSURA PALATINA, MALFORMAÇÕES, MALFORMAÇÕES CONGÊNITAS EM ODONTOLOGIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
POERNER, F. et al. Sib-pair analysis in Brazilian families with non syndromic cleft lip with or without cleft palate. 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 05 nov. 2024.
APA
Poerner, F., Bicalho, M., Hiekkalinna, T., & Passos-Bueno, M. R. (2005). Sib-pair analysis in Brazilian families with non syndromic cleft lip with or without cleft palate. In Poster. Salt Lake City: Instituto de Biociências, Universidade de São Paulo.
NLM
Poerner F, Bicalho M, Hiekkalinna T, Passos-Bueno MR. Sib-pair analysis in Brazilian families with non syndromic cleft lip with or without cleft palate. Poster. 2005 ;[citado 2024 nov. 05 ]
Vancouver
Poerner F, Bicalho M, Hiekkalinna T, Passos-Bueno MR. Sib-pair analysis in Brazilian families with non syndromic cleft lip with or without cleft palate. Poster. 2005 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Waardenburg syndrome: differentiation between types and risks of deafness (2005)
Pardono, Eliete; Mazzeu, Juliana Forte; Lezirovitz, Karina; Nascimento, R. M. P.; Auricchio, Maria Teresa Ballester de Melo; Mingroni Netto, Regina Celia ; Otto, Paulo A
Source: Abstract. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: FACE (DEFEITO), DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PARDONO, Eliete et al. Waardenburg syndrome: differentiation between types and risks of deafness. 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 05 nov. 2024.
APA
Pardono, E., Mazzeu, J. F., Lezirovitz, K., Nascimento, R. M. P., Auricchio, M. T. B. de M., Mingroni Netto, R. C., & Otto, P. A. (2005). Waardenburg syndrome: differentiation between types and risks of deafness. In Abstract. Salt Lake City: Instituto de Biociências, Universidade de São Paulo.
NLM
Pardono E, Mazzeu JF, Lezirovitz K, Nascimento RMP, Auricchio MTB de M, Mingroni Netto RC, Otto PA. Waardenburg syndrome: differentiation between types and risks of deafness. Abstract. 2005 ;[citado 2024 nov. 05 ]
Vancouver
Pardono E, Mazzeu JF, Lezirovitz K, Nascimento RMP, Auricchio MTB de M, Mingroni Netto RC, Otto PA. Waardenburg syndrome: differentiation between types and risks of deafness. Abstract. 2005 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-Like phenotype and investigation of SIM1 gene deletion in 87 patients with sindromic obesity (2005)
Varela, M. C.; Kim, C. A.; Bertola, Débora Romeo; Simões-Sato, A. Y.; Castro, C. I. E.; Koiffmann, Celia Priszkulnik
Source: Abstracts. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: OBESIDADE, ANORMALIDADES CROMOSSÔMICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VARELA, M. C. et al. A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-Like phenotype and investigation of SIM1 gene deletion in 87 patients with sindromic obesity. 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 05 nov. 2024.
APA
Varela, M. C., Kim, C. A., Bertola, D. R., Simões-Sato, A. Y., Castro, C. I. E., & Koiffmann, C. P. (2005). A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-Like phenotype and investigation of SIM1 gene deletion in 87 patients with sindromic obesity. In Abstracts. Salt Lake City: Instituto de Biociências, Universidade de São Paulo.
NLM
Varela MC, Kim CA, Bertola DR, Simões-Sato AY, Castro CIE, Koiffmann CP. A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-Like phenotype and investigation of SIM1 gene deletion in 87 patients with sindromic obesity. Abstracts. 2005 ;[citado 2024 nov. 05 ]
Vancouver
Varela MC, Kim CA, Bertola DR, Simões-Sato AY, Castro CIE, Koiffmann CP. A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-Like phenotype and investigation of SIM1 gene deletion in 87 patients with sindromic obesity. Abstracts. 2005 ;[citado 2024 nov. 05 ]
Trabalho de evento-resumo
Haplotype analyses of the serotonin receptor 2C gene (HTR2C) show evidence of association with male affected with autism spectrum disorders (2005)
Orabona, Guilherme Müller; Moreira, E. S.; Avelar, Lilian de Oliveira; Griesi-Oliveira, K.; Vadasz, Estêvão; Biason, L. M.; Matioli, Sergio Russo ; Otto, Paulo A ; Passos-Bueno, Maria Rita
Source: Abstract. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Subjects: AUTISMO, DOENÇAS GENÉTICAS, MAPEAMENTO GENÉTICO, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ORABONA, Guilherme Müller et al. Haplotype analyses of the serotonin receptor 2C gene (HTR2C) show evidence of association with male affected with autism spectrum disorders. 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 05 nov. 2024.
APA
Orabona, G. M., Moreira, E. S., Avelar, L. de O., Griesi-Oliveira, K., Vadasz, E., Biason, L. M., et al. (2005). Haplotype analyses of the serotonin receptor 2C gene (HTR2C) show evidence of association with male affected with autism spectrum disorders. In Abstract. Salt Lake City: Instituto de Biociências, Universidade de São Paulo.
NLM
Orabona GM, Moreira ES, Avelar L de O, Griesi-Oliveira K, Vadasz E, Biason LM, Matioli SR, Otto PA, Passos-Bueno MR. Haplotype analyses of the serotonin receptor 2C gene (HTR2C) show evidence of association with male affected with autism spectrum disorders. Abstract. 2005 ;[citado 2024 nov. 05 ]
Vancouver
Orabona GM, Moreira ES, Avelar L de O, Griesi-Oliveira K, Vadasz E, Biason LM, Matioli SR, Otto PA, Passos-Bueno MR. Haplotype analyses of the serotonin receptor 2C gene (HTR2C) show evidence of association with male affected with autism spectrum disorders. Abstract. 2005 ;[citado 2024 nov. 05 ]

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