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MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis (2022)
Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy Mizue; Alvarez, Camila Wenceslau ; Migliore, Chiara; Rafacho, Marina Bigeli ; Siemann, Maria Eugênia; Candido-Souza, Rosana Maria; Vendramini-Pittoli, Siulan; Tonello, Cristiano ; Maximino, Luciana Paula ; Meroni, Germana; Guion-Almeida, Maria Leine; Opitz, John M.; Richieri-Costa, Antonio
Source: European Journal of Human Genetics. Conference titles: European Society of Human Genetics. Unidades: HRAC, FOB, HRACF
Subjects: FISSURA LÁBIOPALATINA, HIPERTELORISMO, TRIAGEM, GENÉTICA
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ABNT
ZECHI-CEIDE, Roseli Maria et al. MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis. European Journal of Human Genetics. London: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Disponível em: https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf. Acesso em: 24 abr. 2024. , 2022
APA
Zechi-Ceide, R. M., Kokitsu-Nakata, N. M., Alvarez, C. W., Migliore, C., Rafacho, M. B., Siemann, M. E., et al. (2022). MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis. European Journal of Human Genetics. London: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf
NLM
Zechi-Ceide RM, Kokitsu-Nakata NM, Alvarez CW, Migliore C, Rafacho MB, Siemann ME, Candido-Souza RM, Vendramini-Pittoli S, Tonello C, Maximino LP, Meroni G, Guion-Almeida ML, Opitz JM, Richieri-Costa A. MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis [Internet]. European Journal of Human Genetics. 2022 ; 30 349-350.[citado 2024 abr. 24 ] Available from: https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf
Vancouver
Zechi-Ceide RM, Kokitsu-Nakata NM, Alvarez CW, Migliore C, Rafacho MB, Siemann ME, Candido-Souza RM, Vendramini-Pittoli S, Tonello C, Maximino LP, Meroni G, Guion-Almeida ML, Opitz JM, Richieri-Costa A. MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis [Internet]. European Journal of Human Genetics. 2022 ; 30 349-350.[citado 2024 abr. 24 ] Available from: https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf
Artigo de periodico
Santos syndrome is caused by mutation in the WNT7A gene (2017)
Alves, Leandro U.; Santos, Silvana; Musso, Camila M.; Ezquina, Suzana A. M.; Opitz, John M.; Kok, Fernando; Otto, Paulo A ; Mingroni Netto, Regina Celia
Source: Journal of human genetics. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, SEQUENCIAMENTO GENÉTICO, DOENÇAS GENÉTICAS
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ABNT
ALVES, Leandro U. et al. Santos syndrome is caused by mutation in the WNT7A gene. Journal of human genetics, v. 62, n. 12, p. 1073-1078, 2017Tradução . . Disponível em: https://doi.org/10.1038/jhg.2017.86. Acesso em: 24 abr. 2024.
APA
Alves, L. U., Santos, S., Musso, C. M., Ezquina, S. A. M., Opitz, J. M., Kok, F., et al. (2017). Santos syndrome is caused by mutation in the WNT7A gene. Journal of human genetics, 62( 12), 1073-1078. doi:10.1038/jhg.2017.86
NLM
Alves LU, Santos S, Musso CM, Ezquina SAM, Opitz JM, Kok F, Otto PA, Mingroni Netto RC. Santos syndrome is caused by mutation in the WNT7A gene [Internet]. Journal of human genetics. 2017 ; 62( 12): 1073-1078.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1038/jhg.2017.86
Vancouver
Alves LU, Santos S, Musso CM, Ezquina SAM, Opitz JM, Kok F, Otto PA, Mingroni Netto RC. Santos syndrome is caused by mutation in the WNT7A gene [Internet]. Journal of human genetics. 2017 ; 62( 12): 1073-1078.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1038/jhg.2017.86
Artigo de periodico
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects (2008)
Santos, Silvana Cristina dos; Pardono, Eliete; Costa, Maria Ione Ferreira da; Melo, Áurea Nogueira de; Graciani, Zodja; Souza, Alessandra Cavalcante de Albuquerque e; Lezirovitz, Karina; Thiele-Aguiar, Renata Soares; Mingroni Netto, Regina Celia ; Opitz, John M.; Kok, Fernando; Otto, Paulo A
Source: American Journal of Medical Genetics. Part A. Unidade: IB
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SANTOS, Silvana Cristina dos et al. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects. American Journal of Medical Genetics. Part A, v. 146A, n. 24, p. 3126-3131, 2008Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32580. Acesso em: 24 abr. 2024.
APA
Santos, S. C. dos, Pardono, E., Costa, M. I. F. da, Melo, Á. N. de, Graciani, Z., Souza, A. C. de A. e, et al. (2008). A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects. American Journal of Medical Genetics. Part A, 146A( 24), 3126-3131. doi:10.1002/ajmg.a.32580
NLM
Santos SC dos, Pardono E, Costa MIF da, Melo ÁN de, Graciani Z, Souza AC de A e, Lezirovitz K, Thiele-Aguiar RS, Mingroni Netto RC, Opitz JM, Kok F, Otto PA. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects [Internet]. American Journal of Medical Genetics. Part A. 2008 ; 146A( 24): 3126-3131.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1002/ajmg.a.32580
Vancouver
Santos SC dos, Pardono E, Costa MIF da, Melo ÁN de, Graciani Z, Souza AC de A e, Lezirovitz K, Thiele-Aguiar RS, Mingroni Netto RC, Opitz JM, Kok F, Otto PA. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects [Internet]. American Journal of Medical Genetics. Part A. 2008 ; 146A( 24): 3126-3131.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1002/ajmg.a.32580
Artigo de periodico
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome (2005)
Jehee, Fernanda Sarquis; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino ; Kok, Fernando; Knijnenburg, Jeroen; Froyen, Guy; Vianna-Morgante, Angela M ; Opitz, John M.; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: CROMOSSOMO X (ANOMALIAS), MALFORMAÇÕES, DOENÇAS GENÉTICAS
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ABNT
JEHEE, Fernanda Sarquis et al. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. American Journal of Medical Genetics, v. 139A, n. 3, p. 221-225, 2005Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30991. Acesso em: 24 abr. 2024.
APA
Jehee, F. S., Rosenberg, C., Krepischi, A. C. V., Kok, F., Knijnenburg, J., Froyen, G., et al. (2005). An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. American Journal of Medical Genetics, 139A( 3), 221-225. doi:10.1002/ajmg.a.30991
NLM
Jehee FS, Rosenberg C, Krepischi ACV, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome [Internet]. American Journal of Medical Genetics. 2005 ; 139A( 3): 221-225.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1002/ajmg.a.30991
Vancouver
Jehee FS, Rosenberg C, Krepischi ACV, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome [Internet]. American Journal of Medical Genetics. 2005 ; 139A( 3): 221-225.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1002/ajmg.a.30991
Artigo de periodico
Encomium: Oswaldo Frota-Pessoa (1996)
Vianna-Morgante, Angela M ; Azevedo, Eliane S; Otto, Paulo A ; Opitz, John M.
Source: American Journal of Medical Genetics. Unidade: IB
Assunto: BIOLOGIA
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ABNT
VIANNA-MORGANTE, Angela M et al. Encomium: Oswaldo Frota-Pessoa. American Journal of Medical Genetics, 1996Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19960628)63:4%3C581::aid-ajmg12%3E3.0.co;2-e. Acesso em: 24 abr. 2024.
APA
Vianna-Morgante, A. M., Azevedo, E. S., Otto, P. A., & Opitz, J. M. (1996). Encomium: Oswaldo Frota-Pessoa. American Journal of Medical Genetics. doi:10.1002/(sici)1096-8628(19960628)63:4%3C581::aid-ajmg12%3E3.0.co;2-e
NLM
Vianna-Morgante AM, Azevedo ES, Otto PA, Opitz JM. Encomium: Oswaldo Frota-Pessoa [Internet]. American Journal of Medical Genetics. 1996 ;[citado 2024 abr. 24 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19960628)63:4%3C581::aid-ajmg12%3E3.0.co;2-e
Vancouver
Vianna-Morgante AM, Azevedo ES, Otto PA, Opitz JM. Encomium: Oswaldo Frota-Pessoa [Internet]. American Journal of Medical Genetics. 1996 ;[citado 2024 abr. 24 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19960628)63:4%3C581::aid-ajmg12%3E3.0.co;2-e
Artigo de periodico
Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families (1986)
Richieri-Costa, Antonio; Opitz, John M.
Source: American Journal of Medical Genetics Supplement. Unidade: HRAC
Subjects: HETEROGENEIDADE, ANORMALIDADES CONGÊNITAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio e OPITZ, John M. Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families. American Journal of Medical Genetics Supplement, v. 24, p. 195-206, 1986Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320250624. Acesso em: 24 abr. 2024.
APA
Richieri-Costa, A., & Opitz, J. M. (1986). Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families. American Journal of Medical Genetics Supplement, 24, 195-206. doi:10.1002/ajmg.1320250624
NLM
Richieri-Costa A, Opitz JM. Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families [Internet]. American Journal of Medical Genetics Supplement. 1986 ; 24 195-206.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1002/ajmg.1320250624
Vancouver
Richieri-Costa A, Opitz JM. Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families [Internet]. American Journal of Medical Genetics Supplement. 1986 ; 24 195-206.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1002/ajmg.1320250624

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