Filtros : "Bakker, E" Limpar

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  • Source: Journal of Medical Genetics. Unidade: IB

    Subjects: RETARDO MENTAL, DOENÇAS GENÉTICAS

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    • ABNT

      ROSENBERG, Carla et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. Journal of Medical Genetics, v. 43, p. 180-186, 2006Tradução . . Disponível em: https://doi.org/10.1136/jmg.2005.032268. Acesso em: 04 nov. 2024.
    • APA

      Rosenberg, C., Knijnenburg, J., Bakker, E., Vianna-Morgante, A. M., Sloos, W., Otto, P. A., et al. (2006). Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. Journal of Medical Genetics, 43, 180-186. doi:10.1136/jmg.2005.032268
    • NLM

      Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi ACV, Fiegler H, Carter NP, Bijlsma EK, Van Haeringen A, Szuhai K, Tanke HJ. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents [Internet]. Journal of Medical Genetics. 2006 ; 43 180-186.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1136/jmg.2005.032268
    • Vancouver

      Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi ACV, Fiegler H, Carter NP, Bijlsma EK, Van Haeringen A, Szuhai K, Tanke HJ. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents [Internet]. Journal of Medical Genetics. 2006 ; 43 180-186.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1136/jmg.2005.032268
  • Source: Neuromuscular Disorders. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      ROSENBERG, Carla et al. Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization. Neuromuscular Disorders, v. 8, p. 417-452, 1998Tradução . . Disponível em: https://doi.org/10.1016/s0960-8966(98)00050-9. Acesso em: 04 nov. 2024.
    • APA

      Rosenberg, C., Navajas, L., Vagenas, D. F., Bakker, E., Vainzof, M., Passos-Bueno, M. R., et al. (1998). Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization. Neuromuscular Disorders, 8, 417-452. doi:10.1016/s0960-8966(98)00050-9
    • NLM

      Rosenberg C, Navajas L, Vagenas DF, Bakker E, Vainzof M, Passos-Bueno MR, Takata RI, Van Ommen GJB, Zatz M, Den Dunnen JT. Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization [Internet]. Neuromuscular Disorders. 1998 ; 8 417-452.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1016/s0960-8966(98)00050-9
    • Vancouver

      Rosenberg C, Navajas L, Vagenas DF, Bakker E, Vainzof M, Passos-Bueno MR, Takata RI, Van Ommen GJB, Zatz M, Den Dunnen JT. Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization [Internet]. Neuromuscular Disorders. 1998 ; 8 417-452.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1016/s0960-8966(98)00050-9
  • Source: Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      PASSOS-BUENO, Maria Rita et al. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 brazilian families. Journal of Medical Genetics, v. 33, p. 97-102, 1996Tradução . . Disponível em: https://doi.org/10.1136/jmg.33.2.97. Acesso em: 04 nov. 2024.
    • APA

      Passos-Bueno, M. R., Moreira, E. S., Marie, S. K. N., Bashir, R., Vasquez, L., Love, D. R., et al. (1996). Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 brazilian families. Journal of Medical Genetics, 33, 97-102. doi:10.1136/jmg.33.2.97
    • NLM

      Passos-Bueno MR, Moreira ES, Marie SKN, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 brazilian families [Internet]. Journal of Medical Genetics. 1996 ;33 97-102.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1136/jmg.33.2.97
    • Vancouver

      Passos-Bueno MR, Moreira ES, Marie SKN, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 brazilian families [Internet]. Journal of Medical Genetics. 1996 ;33 97-102.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1136/jmg.33.2.97
  • Conference titles: European Neuro Muscular Center International Workshop. Unidade: IB

    Subjects: GENÉTICA MÉDICA, NEUROLOGIA

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    • ABNT

      ZATZ, Mayana et al. Clinical and laboratorial findings in autosomal recessive muscular dystrophies (armd). 1995, Anais.. Naarden: Instituto de Biociências, Universidade de São Paulo, 1995. . Acesso em: 04 nov. 2024.
    • APA

      Zatz, M., Passos-Bueno, M. R., Marie, S. K. N., Moreira, E. S., Bashir, R., Vasquez, L., et al. (1995). Clinical and laboratorial findings in autosomal recessive muscular dystrophies (armd). In . Naarden: Instituto de Biociências, Universidade de São Paulo.
    • NLM

      Zatz M, Passos-Bueno MR, Marie SKN, Moreira ES, Bashir R, Vasquez L, Love DR, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K. Clinical and laboratorial findings in autosomal recessive muscular dystrophies (armd). 1995 ;[citado 2024 nov. 04 ]
    • Vancouver

      Zatz M, Passos-Bueno MR, Marie SKN, Moreira ES, Bashir R, Vasquez L, Love DR, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K. Clinical and laboratorial findings in autosomal recessive muscular dystrophies (armd). 1995 ;[citado 2024 nov. 04 ]
  • Source: Genomics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      PASSOS-BUENO, Maria Rita et al. Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (lgmd2b) in three families allows refinement of the candidate region. Genomics, v. 27, n. 1 , p. 192-5, 1995Tradução . . Acesso em: 04 nov. 2024.
    • APA

      Passos-Bueno, M. R., Bashir, R., Moreira, E. S., Vainzof, M., Marie, S. K. N., Vasquez, L., et al. (1995). Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (lgmd2b) in three families allows refinement of the candidate region. Genomics, 27( 1 ), 192-5.
    • NLM

      Passos-Bueno MR, Bashir R, Moreira ES, Vainzof M, Marie SKN, Vasquez L, Iughetti P, Bakker E, Keers S, Stephenson A, Strachan T. Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (lgmd2b) in three families allows refinement of the candidate region. Genomics. 1995 ;27( 1 ): 192-5.[citado 2024 nov. 04 ]
    • Vancouver

      Passos-Bueno MR, Bashir R, Moreira ES, Vainzof M, Marie SKN, Vasquez L, Iughetti P, Bakker E, Keers S, Stephenson A, Strachan T. Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (lgmd2b) in three families allows refinement of the candidate region. Genomics. 1995 ;27( 1 ): 192-5.[citado 2024 nov. 04 ]
  • Source: Revista Brasileira de Genética = Brazilian Journal of Genetics. Conference titles: Congresso Nacional de Genética. Unidade: IB

    Subjects: GENÉTICA MÉDICA, CITOLOGIA, BIOLOGIA CELULAR

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      PASSOS-BUENO, Maria Rita et al. Triagem de deleções de cdna em possíveis portadoras quanto ao gene da distrofia muscular tipo duchenne (dmd). Revista Brasileira de Genética = Brazilian Journal of Genetics. [S.l.]: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 04 nov. 2024. , 1994
    • APA

      Passos-Bueno, M. R., Campiotto, S., Takata, R. I., Kneppers, A. L. J., Bakker, E., & Zatz, M. (1994). Triagem de deleções de cdna em possíveis portadoras quanto ao gene da distrofia muscular tipo duchenne (dmd). Revista Brasileira de Genética = Brazilian Journal of Genetics. Instituto de Biociências, Universidade de São Paulo.
    • NLM

      Passos-Bueno MR, Campiotto S, Takata RI, Kneppers ALJ, Bakker E, Zatz M. Triagem de deleções de cdna em possíveis portadoras quanto ao gene da distrofia muscular tipo duchenne (dmd). Revista Brasileira de Genética = Brazilian Journal of Genetics. 1994 ;17( 3 suppl.): 81.[citado 2024 nov. 04 ]
    • Vancouver

      Passos-Bueno MR, Campiotto S, Takata RI, Kneppers ALJ, Bakker E, Zatz M. Triagem de deleções de cdna em possíveis portadoras quanto ao gene da distrofia muscular tipo duchenne (dmd). Revista Brasileira de Genética = Brazilian Journal of Genetics. 1994 ;17( 3 suppl.): 81.[citado 2024 nov. 04 ]
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. No evidence of genetic heterogeneity in brazilian facioscapulohumeral muscular dystrophy familes (fshd) with 4q markers. Human Molecular Genetics, v. 2 , n. 5 , p. 557-62, 1993Tradução . . Disponível em: https://doi.org/10.1093/hmg/2.5.557. Acesso em: 04 nov. 2024.
    • APA

      Passos-Bueno, M. R., Wijmenga, C., Takata, R. I., Marie, S. K. N., Vainzof, M., Pavanello, R. C. M., et al. (1993). No evidence of genetic heterogeneity in brazilian facioscapulohumeral muscular dystrophy familes (fshd) with 4q markers. Human Molecular Genetics, 2 ( 5 ), 557-62. doi:10.1093/hmg/2.5.557
    • NLM

      Passos-Bueno MR, Wijmenga C, Takata RI, Marie SKN, Vainzof M, Pavanello RCM, Hewitt JE, Bakker E, Carvalho A, Akiyama J, Frants RR. No evidence of genetic heterogeneity in brazilian facioscapulohumeral muscular dystrophy familes (fshd) with 4q markers [Internet]. Human Molecular Genetics. 1993 ;2 ( 5 ): 557-62.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1093/hmg/2.5.557
    • Vancouver

      Passos-Bueno MR, Wijmenga C, Takata RI, Marie SKN, Vainzof M, Pavanello RCM, Hewitt JE, Bakker E, Carvalho A, Akiyama J, Frants RR. No evidence of genetic heterogeneity in brazilian facioscapulohumeral muscular dystrophy familes (fshd) with 4q markers [Internet]. Human Molecular Genetics. 1993 ;2 ( 5 ): 557-62.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1093/hmg/2.5.557
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. Genetic heterogeneity for duchenne-like muscular dystrophy (dlmd) based on linkage and 50 dag analysis. Human Molecular Genetics, v. 2 , n. 11, p. 1945-7, 1993Tradução . . Acesso em: 04 nov. 2024.
    • APA

      Passos-Bueno, M. R., Oliveira, J. R., Bakker, E., Anderson, R. D., Marie, S. K. N., Vainzof, M., et al. (1993). Genetic heterogeneity for duchenne-like muscular dystrophy (dlmd) based on linkage and 50 dag analysis. Human Molecular Genetics, 2 ( 11), 1945-7.
    • NLM

      Passos-Bueno MR, Oliveira JR, Bakker E, Anderson RD, Marie SKN, Vainzof M, Roberds S, Campbell KP, Zatz M. Genetic heterogeneity for duchenne-like muscular dystrophy (dlmd) based on linkage and 50 dag analysis. Human Molecular Genetics. 1993 ;2 ( 11): 1945-7.[citado 2024 nov. 04 ]
    • Vancouver

      Passos-Bueno MR, Oliveira JR, Bakker E, Anderson RD, Marie SKN, Vainzof M, Roberds S, Campbell KP, Zatz M. Genetic heterogeneity for duchenne-like muscular dystrophy (dlmd) based on linkage and 50 dag analysis. Human Molecular Genetics. 1993 ;2 ( 11): 1945-7.[citado 2024 nov. 04 ]
  • Source: Canadian Journal of Neurological Sciences. Conference titles: World Congress of Neurology. Unidades: FM, IB

    Assunto: NEUROLOGIA

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      PASSOS-BUENO, Maria Rita et al. Study of 4q dna markers in brazilian fascioscapulohumeral muscular dystrophy (fshd) families. Canadian Journal of Neurological Sciences. Calgary: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 04 nov. 2024. , 1993
    • APA

      Passos-Bueno, M. R., Wijmenga, C., Takata, R. I., Marie, S. K. N., Vainzof, M., Pavanello, R. C. M., et al. (1993). Study of 4q dna markers in brazilian fascioscapulohumeral muscular dystrophy (fshd) families. Canadian Journal of Neurological Sciences. Calgary: Faculdade de Medicina, Universidade de São Paulo.
    • NLM

      Passos-Bueno MR, Wijmenga C, Takata RI, Marie SKN, Vainzof M, Pavanello RCM, Hewitt JE, Bakker E, Carvalho AAS, Akiyama J, Frants RR. Study of 4q dna markers in brazilian fascioscapulohumeral muscular dystrophy (fshd) families. Canadian Journal of Neurological Sciences. 1993 ;20( suppl.4): s30.[citado 2024 nov. 04 ]
    • Vancouver

      Passos-Bueno MR, Wijmenga C, Takata RI, Marie SKN, Vainzof M, Pavanello RCM, Hewitt JE, Bakker E, Carvalho AAS, Akiyama J, Frants RR. Study of 4q dna markers in brazilian fascioscapulohumeral muscular dystrophy (fshd) families. Canadian Journal of Neurological Sciences. 1993 ;20( suppl.4): s30.[citado 2024 nov. 04 ]
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive duchenne-like muscular dystrophy in brazilian families. Human Molecular Genetics, v. 2 , n. 2 , p. 201-2, 1993Tradução . . Disponível em: https://doi.org/10.1093/hmg/2.2.201. Acesso em: 04 nov. 2024.
    • APA

      Passos-Bueno, M. R., Bakker, E., Marie, S. K. N., Pavanello, R. C. M., Vainzof, M., Carvalho, A. A., et al. (1993). Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive duchenne-like muscular dystrophy in brazilian families. Human Molecular Genetics, 2 ( 2 ), 201-2. doi:10.1093/hmg/2.2.201
    • NLM

      Passos-Bueno MR, Bakker E, Marie SKN, Pavanello RCM, Vainzof M, Carvalho AA, Cohen D, Beckmann JS, Zatz M. Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive duchenne-like muscular dystrophy in brazilian families [Internet]. Human Molecular Genetics. 1993 ;2 ( 2 ): 201-2.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1093/hmg/2.2.201
    • Vancouver

      Passos-Bueno MR, Bakker E, Marie SKN, Pavanello RCM, Vainzof M, Carvalho AA, Cohen D, Beckmann JS, Zatz M. Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive duchenne-like muscular dystrophy in brazilian families [Internet]. Human Molecular Genetics. 1993 ;2 ( 2 ): 201-2.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1093/hmg/2.2.201
  • Source: American Journal of Medical Genetics. Unidades: FM, IB

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. Severe nonspecific x-linked mental retardation caused by a proximally xp located gene: intragenic heterogeneity or a new form of x-linked mental retardation?. American Journal of Medical Genetics, v. 46, n. 2 , p. 172-5, 1993Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320460214. Acesso em: 04 nov. 2024.
    • APA

      Passos-Bueno, M. R., Byth, B. C., Rosemberg, S., Takata, R. I., Bakker, E., Beggs, A. H., et al. (1993). Severe nonspecific x-linked mental retardation caused by a proximally xp located gene: intragenic heterogeneity or a new form of x-linked mental retardation? American Journal of Medical Genetics, 46( 2 ), 172-5. doi:10.1002/ajmg.1320460214
    • NLM

      Passos-Bueno MR, Byth BC, Rosemberg S, Takata RI, Bakker E, Beggs AH, Pavanello RCM, Vainzof M, Davies KE, Zatz M. Severe nonspecific x-linked mental retardation caused by a proximally xp located gene: intragenic heterogeneity or a new form of x-linked mental retardation? [Internet]. American Journal of Medical Genetics. 1993 ;46( 2 ): 172-5.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.1320460214
    • Vancouver

      Passos-Bueno MR, Byth BC, Rosemberg S, Takata RI, Bakker E, Beggs AH, Pavanello RCM, Vainzof M, Davies KE, Zatz M. Severe nonspecific x-linked mental retardation caused by a proximally xp located gene: intragenic heterogeneity or a new form of x-linked mental retardation? [Internet]. American Journal of Medical Genetics. 1993 ;46( 2 ): 172-5.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.1320460214
  • Source: American Journal of Human Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. Different mosaicism frequencies for proximal and distal duchenne muscular dystrophy (dmd) mutations indicate difference in etiology and recurrence risk. American Journal of Human Genetics, v. no 1992, n. 5 , p. 1150-5, 1992Tradução . . Acesso em: 04 nov. 2024.
    • APA

      Passos-Bueno, M. R., Bakker, E., Kneppers, A. L. J., Takata, R. I., Rapaport, D., Dunnen, J. T., et al. (1992). Different mosaicism frequencies for proximal and distal duchenne muscular dystrophy (dmd) mutations indicate difference in etiology and recurrence risk. American Journal of Human Genetics, no 1992( 5 ), 1150-5.
    • NLM

      Passos-Bueno MR, Bakker E, Kneppers ALJ, Takata RI, Rapaport D, Dunnen JT, Zatz M, Ommen GJB. Different mosaicism frequencies for proximal and distal duchenne muscular dystrophy (dmd) mutations indicate difference in etiology and recurrence risk. American Journal of Human Genetics. 1992 ; no 1992( 5 ): 1150-5.[citado 2024 nov. 04 ]
    • Vancouver

      Passos-Bueno MR, Bakker E, Kneppers ALJ, Takata RI, Rapaport D, Dunnen JT, Zatz M, Ommen GJB. Different mosaicism frequencies for proximal and distal duchenne muscular dystrophy (dmd) mutations indicate difference in etiology and recurrence risk. American Journal of Human Genetics. 1992 ; no 1992( 5 ): 1150-5.[citado 2024 nov. 04 ]
  • Source: Programa e Resumos. Conference titles: Reuniao Anual da Sociedade Brasileira de Bioquimica e Biologia Molecular - Sbbq. Unidade: IB

    Assunto: GENÉTICA ANIMAL

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      PASSOS-BUENO, Maria Rita et al. Gene causing severe non-specific x-linked mental retardation (xlmr) maps at the distal region of the xp: a new form of xlmr or clinical variability within the same locus? 1992, Anais.. Caxambu: Sbbq, 1992. . Acesso em: 04 nov. 2024.
    • APA

      Passos-Bueno, M. R., Takata, R. I., Byth, B., Bassett, J. H. D., Beggs, A., Bakker, E., et al. (1992). Gene causing severe non-specific x-linked mental retardation (xlmr) maps at the distal region of the xp: a new form of xlmr or clinical variability within the same locus? In Programa e Resumos. Caxambu: Sbbq.
    • NLM

      Passos-Bueno MR, Takata RI, Byth B, Bassett JHD, Beggs A, Bakker E, Vainzof M, Zatz M. Gene causing severe non-specific x-linked mental retardation (xlmr) maps at the distal region of the xp: a new form of xlmr or clinical variability within the same locus? Programa e Resumos. 1992 ;[citado 2024 nov. 04 ]
    • Vancouver

      Passos-Bueno MR, Takata RI, Byth B, Bassett JHD, Beggs A, Bakker E, Vainzof M, Zatz M. Gene causing severe non-specific x-linked mental retardation (xlmr) maps at the distal region of the xp: a new form of xlmr or clinical variability within the same locus? Programa e Resumos. 1992 ;[citado 2024 nov. 04 ]

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