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Filtros : "BUENO, MARIA RITA DOS SANTOS E PASSOS" Removido: "Passos-Bueno, Maria Rita" Limpar

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1 - 8 (8 records)

  • Artigo de periodico

    Expanding the Molecular and Clinical Phenotype of SSR4-CDG (2015)

    Ng, Bobby G.; Raymond, Kimiyo; Kircher, Martin; Buckingham, Kati J.; Wood, Tim; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Wong, Jonathan T. S.; Monteiro, Fabiola Paoli; Graham, Brett H.; Jackson, Sheryl; Sparkes, Rebecca; Scheuerle, Angela E.; Cathey, Sara; Kok, Fernando; Gibson, James B.; Freeze, Hudson H.

    Source: Human Mutation. Unidades: FM, IB

    Subjects: ERROS INATOS DO METABOLISMO DOS CARBOIDRATOS, RECEPTORES, ANORMALIDADES DO SISTEMA NERVOSO, DOENÇAS METABÓLICAS

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    • ABNT

      NG, Bobby G. et al. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation, v. 36, n. 11, p. on-line, 2015Tradução . . Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/humu.22856/epdf. Acesso em: 13 out. 2025.

    • APA

      Ng, B. G., Raymond, K., Kircher, M., Buckingham, K. J., Wood, T., Shendure, J., et al. (2015). Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation, 36( 11), on-line. doi:10.1002/humu.22856

    • NLM

      Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JTS, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Expanding the Molecular and Clinical Phenotype of SSR4-CDG [Internet]. Human Mutation. 2015 ; 36( 11): on-line.[citado 2025 out. 13 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.22856/epdf

    • Vancouver

      Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JTS, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Expanding the Molecular and Clinical Phenotype of SSR4-CDG [Internet]. Human Mutation. 2015 ; 36( 11): on-line.[citado 2025 out. 13 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.22856/epdf

  • Artigo de periodico

    A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 (2004)

    Takata, R I; Martins, C E Speck; Passosbueno, M R ; Abe, K. T; Nishimura, A L; Silva, M Dorvalina Da; Monteiro Jr., A; Lima, M I; Kok, F ; Zatz, Mayana

    Source: Journal of Medical Genetics. Unidades: IB, FM

    Subjects: ATROFIA MUSCULAR, DOENÇAS NEUROMUSCULARES, DOENÇAS HEREDITÁRIAS

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    • ABNT

      TAKATA, R I et al. A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21. Journal of Medical Genetics, v. 41, p. 224-229, 2004Tradução . . Disponível em: https://doi.org/10.1136/jmg.2003.013201. Acesso em: 13 out. 2025.

    • APA

      Takata, R. I., Martins, C. E. S., Passosbueno, M. R., Abe, K. T., Nishimura, A. L., Silva, M. D. D., et al. (2004). A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21. Journal of Medical Genetics, 41, 224-229. doi:10.1136/jmg.2003.013201

    • NLM

      Takata RI, Martins CES, Passosbueno MR, Abe KT, Nishimura AL, Silva MDD, Monteiro Jr. A, Lima MI, Kok F, Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 [Internet]. Journal of Medical Genetics. 2004 ; 41 224-229.[citado 2025 out. 13 ] Available from: https://doi.org/10.1136/jmg.2003.013201

    • Vancouver

      Takata RI, Martins CES, Passosbueno MR, Abe KT, Nishimura AL, Silva MDD, Monteiro Jr. A, Lima MI, Kok F, Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 [Internet]. Journal of Medical Genetics. 2004 ; 41 224-229.[citado 2025 out. 13 ] Available from: https://doi.org/10.1136/jmg.2003.013201

  • Trabalho de evento-resumo periodico

    Endostatin measurement as preliminary screening test for the diagnosis of Knobloch syndrome (2002)

    Suzuki, Oscar T.; Kok, Fernando; Der Kaloustian, Vazken M.; Olsen, Björn

    Source: Abstracts. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB

    Assunto: DOENÇAS GENÉTICAS

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    • ABNT

      SUZUKI, Oscar T. et al. Endostatin measurement as preliminary screening test for the diagnosis of Knobloch syndrome. Abstracts. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 13 out. 2025. , 2002

    • APA

      Suzuki, O. T., Kok, F., Der Kaloustian, V. M., & Olsen, B. (2002). Endostatin measurement as preliminary screening test for the diagnosis of Knobloch syndrome. Abstracts. Baltimore: Instituto de Biociências, Universidade de São Paulo.

    • NLM

      Suzuki OT, Kok F, Der Kaloustian VM, Olsen B. Endostatin measurement as preliminary screening test for the diagnosis of Knobloch syndrome. Abstracts. 2002 ; 71( 4): 287 res.678.[citado 2025 out. 13 ]

    • Vancouver

      Suzuki OT, Kok F, Der Kaloustian VM, Olsen B. Endostatin measurement as preliminary screening test for the diagnosis of Knobloch syndrome. Abstracts. 2002 ; 71( 4): 287 res.678.[citado 2025 out. 13 ]

  • Trabalho de evento-resumo periodico

    Miosite por células gigantes: relato de caso (2000)

    Silva, H.C.A.; Yamamoto, F.I; Tsanaclis, Ana Maria Crous

    Source: Arquivos de Neuro-Psiquiatria. Conference titles: Congresso Brasileiro de Neurologia. Unidades: FM, IB

    Assunto: PATOLOGIA

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    • ABNT

      SILVA, H.C.A. e YAMAMOTO, F.I e TSANACLIS, Ana Maria Crous. Miosite por células gigantes: relato de caso. Arquivos de Neuro-Psiquiatria. Salvador: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 13 out. 2025. , 2000

    • APA

      Silva, H. C. A., Yamamoto, F. I., & Tsanaclis, A. M. C. (2000). Miosite por células gigantes: relato de caso. Arquivos de Neuro-Psiquiatria. Salvador: Faculdade de Medicina, Universidade de São Paulo.

    • NLM

      Silva HCA, Yamamoto FI, Tsanaclis AMC. Miosite por células gigantes: relato de caso. Arquivos de Neuro-Psiquiatria. 2000 ; 58 61.[citado 2025 out. 13 ]

    • Vancouver

      Silva HCA, Yamamoto FI, Tsanaclis AMC. Miosite por células gigantes: relato de caso. Arquivos de Neuro-Psiquiatria. 2000 ; 58 61.[citado 2025 out. 13 ]

  • Artigo de periodico

    Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia (2000)

    Iughetti, Paula; Alonso, Luís Garcia; Wilcox, William; Alonso, Nivaldo

    Source: American Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      IUGHETTI, Paula et al. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. American Journal of Medical Genetics, n. 95, p. 482-491, 2000Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20001218)95:5%3C482::aid-ajmg14%3E3.0.co;2-x. Acesso em: 13 out. 2025.

    • APA

      Iughetti, P., Alonso, L. G., Wilcox, W., & Alonso, N. (2000). Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. American Journal of Medical Genetics, ( 95), 482-491. doi:10.1002/1096-8628(20001218)95:5%3C482::aid-ajmg14%3E3.0.co;2-x

    • NLM

      Iughetti P, Alonso LG, Wilcox W, Alonso N. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia [Internet]. American Journal of Medical Genetics. 2000 ;( 95): 482-491.[citado 2025 out. 13 ] Available from: https://doi.org/10.1002/1096-8628(20001218)95:5%3C482::aid-ajmg14%3E3.0.co;2-x

    • Vancouver

      Iughetti P, Alonso LG, Wilcox W, Alonso N. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia [Internet]. American Journal of Medical Genetics. 2000 ;( 95): 482-491.[citado 2025 out. 13 ] Available from: https://doi.org/10.1002/1096-8628(20001218)95:5%3C482::aid-ajmg14%3E3.0.co;2-x

  • Trabalho de evento-resumo

    Understanding the molecular biology of chromosome 2p-linked lgmd (lgmd 2b) (1996)

    Bushby, K; Bashir, R; Britton, S; Keers, S; Mahjneh, I; Zatz, Mayana ; Strachan, T

    Source: Abstracts. Conference titles: Limb Girdle Muscular Dystrophies Genetics Workshop. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      BUSHBY, K et al. Understanding the molecular biology of chromosome 2p-linked lgmd (lgmd 2b). 1996, Anais.. Tunis: Instituto de Biociências, Universidade de São Paulo, 1996. . Acesso em: 13 out. 2025.

    • APA

      Bushby, K., Bashir, R., Britton, S., Keers, S., Mahjneh, I., Zatz, M., & Strachan, T. (1996). Understanding the molecular biology of chromosome 2p-linked lgmd (lgmd 2b). In Abstracts. Tunis: Instituto de Biociências, Universidade de São Paulo.

    • NLM

      Bushby K, Bashir R, Britton S, Keers S, Mahjneh I, Zatz M, Strachan T. Understanding the molecular biology of chromosome 2p-linked lgmd (lgmd 2b). Abstracts. 1996 ;[citado 2025 out. 13 ]

    • Vancouver

      Bushby K, Bashir R, Britton S, Keers S, Mahjneh I, Zatz M, Strachan T. Understanding the molecular biology of chromosome 2p-linked lgmd (lgmd 2b). Abstracts. 1996 ;[citado 2025 out. 13 ]

  • Artigo de periodico

    Mutations in the proteolytic enzyme calpain 3 cause lim-girdle muscular dystrophy type 2a (1995)

    Richard, I; Broux, O; Allamand, V; Fougerousse, F; Chiannilkulchai, N; Bourg, N; Brenguier, L; Devaud, C; Pasturaud, P; Roudaut, C; Hillaire, D

    Source: Cell. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      RICHARD, I et al. Mutations in the proteolytic enzyme calpain 3 cause lim-girdle muscular dystrophy type 2a. Cell, v. 81, p. 27-40, 1995Tradução . . Disponível em: https://doi.org/10.1016/0092-8674(95)90368-2. Acesso em: 13 out. 2025.

    • APA

      Richard, I., Broux, O., Allamand, V., Fougerousse, F., Chiannilkulchai, N., Bourg, N., et al. (1995). Mutations in the proteolytic enzyme calpain 3 cause lim-girdle muscular dystrophy type 2a. Cell, 81, 27-40. doi:10.1016/0092-8674(95)90368-2

    • NLM

      Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D. Mutations in the proteolytic enzyme calpain 3 cause lim-girdle muscular dystrophy type 2a [Internet]. Cell. 1995 ;81 27-40.[citado 2025 out. 13 ] Available from: https://doi.org/10.1016/0092-8674(95)90368-2

    • Vancouver

      Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D. Mutations in the proteolytic enzyme calpain 3 cause lim-girdle muscular dystrophy type 2a [Internet]. Cell. 1995 ;81 27-40.[citado 2025 out. 13 ] Available from: https://doi.org/10.1016/0092-8674(95)90368-2

  • Artigo de periodico

    Gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage (1991)

    Beckmann, J S; Richard, I; Hillaire, D; Broux, O; Antignac, C; Bois, E; Cann, H; Cottingham Junior, R W; Feingold, N; Feingold, J; Kalil Filho, Jorge Elias

    Source: Comptes Rendus Academie des Sciences. Serie 3. Unidades: IB, FM

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      BECKMANN, J S et al. Gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. Comptes Rendus Academie des Sciences. Serie 3, v. 312, p. 141-8, 1991Tradução . . Acesso em: 13 out. 2025.

    • APA

      Beckmann, J. S., Richard, I., Hillaire, D., Broux, O., Antignac, C., Bois, E., et al. (1991). Gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. Comptes Rendus Academie des Sciences. Serie 3, 312, 141-8.

    • NLM

      Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, Cann H, Cottingham Junior RW, Feingold N, Feingold J, Kalil Filho JE. Gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. Comptes Rendus Academie des Sciences. Serie 3. 1991 ;312 141-8.[citado 2025 out. 13 ]

    • Vancouver

      Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, Cann H, Cottingham Junior RW, Feingold N, Feingold J, Kalil Filho JE. Gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. Comptes Rendus Academie des Sciences. Serie 3. 1991 ;312 141-8.[citado 2025 out. 13 ]
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