Filtros : "ZATZ, MAYANA" "Human Molecular Genetics" Removido: "Variable Energy Cyclotron Centre, Homi Bhabha National Institute, Kolkata, India." Limpar

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  • Source: Human Molecular Genetics. Unidades: ICB, FM, IB

    Subjects: DOENÇAS NEURODEGENERATIVAS, SEQUENCIAMENTO GENÉTICO, DOENÇAS GENÉTICAS, MAPEAMENTO GENÉTICO, NEUROGENÉTICA, HEREDITARIEDADE, REPARAÇÃO DE DNA

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      MELO, Uira S et al. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Human Molecular Genetics, p. 1-9, 2015Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddv388. Acesso em: 17 jun. 2024.
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      Melo, U. S., Macedo-Souza, L. I., Figueiredo, T., Muotri, A. R., Gleeson,, Coux, G., et al. (2015). Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Human Molecular Genetics, 1-9. doi:10.1093/hmg/ddv388
    • NLM

      Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CRR, Martins-Pinheiro M, Menck CFM, Zaki MS, Kok F, Zatz M, Santos S. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome [Internet]. Human Molecular Genetics. 2015 ; 1-9.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/ddv388
    • Vancouver

      Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CRR, Martins-Pinheiro M, Menck CFM, Zaki MS, Kok F, Zatz M, Santos S. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome [Internet]. Human Molecular Genetics. 2015 ; 1-9.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/ddv388
  • Source: Human Molecular Genetics. Unidade: IB

    Subjects: DISTROFIA MUSCULAR, PROTEÍNAS, MUTAÇÃO GENÉTICA, GENÉTICA MÉDICA

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      VIEIRA, Natássia M et al. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Human Molecular Genetics, p. 01-018 on-line, 2014Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddu127. Acesso em: 17 jun. 2024.
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      Vieira, N. M., Naslavsky, M., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., et al. (2014). A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Human Molecular Genetics, 01-018 on-line. doi:10.1093/hmg/ddu127
    • NLM

      Vieira NM, Naslavsky M, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G) [Internet]. Human Molecular Genetics. 2014 ; 01-018 on-line.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/ddu127
    • Vancouver

      Vieira NM, Naslavsky M, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G) [Internet]. Human Molecular Genetics. 2014 ; 01-018 on-line.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/ddu127
  • Source: Human Molecular Genetics. Unidade: IB

    Subjects: DOENÇAS NEUROMUSCULARES, CÉLULAS-TRONCO

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      MITNE NETO, Miguel et al. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients. Human Molecular Genetics, v. 20, n. 18, p. 3642-3652, 2011Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddr284. Acesso em: 17 jun. 2024.
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      Mitne Neto, M., Costa, M. M., Marchetto, M. C. N., Bengtson, M. H., Joazeiro, C. A., Tsuda, H., et al. (2011). Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients. Human Molecular Genetics, 20( 18), 3642-3652. doi:10.1093/hmg/ddr284
    • NLM

      Mitne Neto M, Costa MM, Marchetto MCN, Bengtson MH, Joazeiro CA, Tsuda H, Bellen HJ, Silva HAC, Oliveira ASB, Lazar M, Muotri AR, Zatz M. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients [Internet]. Human Molecular Genetics. 2011 ; 20( 18): 3642-3652.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/ddr284
    • Vancouver

      Mitne Neto M, Costa MM, Marchetto MCN, Bengtson MH, Joazeiro CA, Tsuda H, Bellen HJ, Silva HAC, Oliveira ASB, Lazar M, Muotri AR, Zatz M. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients [Internet]. Human Molecular Genetics. 2011 ; 20( 18): 3642-3652.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/ddr284
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      SERTIÉ, Andréa Laurato et al. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Human Molecular Genetics, v. 9, n. 13, p. 2051-2058, 2000Tradução . . Acesso em: 17 jun. 2024.
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      Sertié, A. L., Sossi, V., Camargo, A. M. A., Zatz, M., Brahe, C., & Passos-Bueno, M. R. (2000). Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Human Molecular Genetics, 9( 13), 2051-2058.
    • NLM

      Sertié AL, Sossi V, Camargo AMA, Zatz M, Brahe C, Passos-Bueno MR. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Human Molecular Genetics. 2000 ; 9( 13): 2051-2058.[citado 2024 jun. 17 ]
    • Vancouver

      Sertié AL, Sossi V, Camargo AMA, Zatz M, Brahe C, Passos-Bueno MR. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Human Molecular Genetics. 2000 ; 9( 13): 2051-2058.[citado 2024 jun. 17 ]
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      MCNALLY, Elizabeth M et al. Caveolin-3 in muscular dystrophy. Human Molecular Genetics, v. 7, n. 5, p. 871-877, 1998Tradução . . Disponível em: https://doi.org/10.1093/hmg/7.5.871. Acesso em: 17 jun. 2024.
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      McNally, E. M., Moreira, E. de S., Duggan, D. J., Bönnemann, C. G., Lisanti, M. P., Lidov, H. G. W., et al. (1998). Caveolin-3 in muscular dystrophy. Human Molecular Genetics, 7( 5), 871-877. doi:10.1093/hmg/7.5.871
    • NLM

      McNally EM, Moreira E de S, Duggan DJ, Bönnemann CG, Lisanti MP, Lidov HGW, Vainzof M, Passos-Bueno MR, Hoffman EP, Zatz M, Kunkel LM. Caveolin-3 in muscular dystrophy [Internet]. Human Molecular Genetics. 1998 ; 7( 5): 871-877.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/7.5.871
    • Vancouver

      McNally EM, Moreira E de S, Duggan DJ, Bönnemann CG, Lisanti MP, Lidov HGW, Vainzof M, Passos-Bueno MR, Hoffman EP, Zatz M, Kunkel LM. Caveolin-3 in muscular dystrophy [Internet]. Human Molecular Genetics. 1998 ; 7( 5): 871-877.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/7.5.871
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Human Molecular Genetics, v. 5, n. 6, p. 815-820, 1996Tradução . . Disponível em: https://doi.org/10.1093/hmg/5.6.815. Acesso em: 17 jun. 2024.
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      Passos-Bueno, M. R., Moreira, E. S., Vainzof, M., Marie, S. K. N., & Zatz, M. (1996). Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Human Molecular Genetics, 5( 6), 815-820. doi:10.1093/hmg/5.6.815
    • NLM

      Passos-Bueno MR, Moreira ES, Vainzof M, Marie SKN, Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD [Internet]. Human Molecular Genetics. 1996 ; 5( 6): 815-820.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/5.6.815
    • Vancouver

      Passos-Bueno MR, Moreira ES, Vainzof M, Marie SKN, Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD [Internet]. Human Molecular Genetics. 1996 ; 5( 6): 815-820.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/5.6.815
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      SERTIÉ, A L et al. A gene wich causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. Human Molecular Genetics, v. 5, n. 6, p. 843-847, 1996Tradução . . Disponível em: https://doi.org/10.1093/hmg/5.6.843. Acesso em: 17 jun. 2024.
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      Sertié, A. L., Quimby, M., Moreira, E. S., Murray, J., Zatz, M., Antonarakis, S. E., & Passos-Bueno, M. R. (1996). A gene wich causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. Human Molecular Genetics, 5( 6), 843-847. doi:10.1093/hmg/5.6.843
    • NLM

      Sertié AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE, Passos-Bueno MR. A gene wich causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 [Internet]. Human Molecular Genetics. 1996 ; 5( 6): 843-847.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/5.6.843
    • Vancouver

      Sertié AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE, Passos-Bueno MR. A gene wich causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 [Internet]. Human Molecular Genetics. 1996 ; 5( 6): 843-847.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/5.6.843
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      BONNEMANN, C G et al. Genomic screening for 'BETA'-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2e (lgmd 2e). Human Molecular Genetics, v. 5 , n. 12, p. 1953-61, 1996Tradução . . Acesso em: 17 jun. 2024.
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      Bonnemann, C. G., Passos-Bueno, M. R., Mcnally, E. M., Vainzof, M., Moreira, E. S., Marie, S. K. N., et al. (1996). Genomic screening for 'BETA'-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2e (lgmd 2e). Human Molecular Genetics, 5 ( 12), 1953-61.
    • NLM

      Bonnemann CG, Passos-Bueno MR, Mcnally EM, Vainzof M, Moreira ES, Marie SKN, Pavanello RCM, Noguchi S, Ozawa E, Zatz M, Kunkel LM. Genomic screening for 'BETA'-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2e (lgmd 2e). Human Molecular Genetics. 1996 ;5 ( 12): 1953-61.[citado 2024 jun. 17 ]
    • Vancouver

      Bonnemann CG, Passos-Bueno MR, Mcnally EM, Vainzof M, Moreira ES, Marie SKN, Pavanello RCM, Noguchi S, Ozawa E, Zatz M, Kunkel LM. Genomic screening for 'BETA'-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2e (lgmd 2e). Human Molecular Genetics. 1996 ;5 ( 12): 1953-61.[citado 2024 jun. 17 ]
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      ZATZ, Mayana et al. Analysis of the ctg repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?. Human Molecular Genetics, v. 4 , n. 3 , p. 401-6, 1995Tradução . . Disponível em: https://doi.org/10.1093/hmg/4.3.401. Acesso em: 17 jun. 2024.
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      Zatz, M., Passos-Bueno, M. R., Cerqueira, A. M. P., Marie, S. K. N., Vainzof, M., & Pavanello, R. C. M. (1995). Analysis of the ctg repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? Human Molecular Genetics, 4 ( 3 ), 401-6. doi:10.1093/hmg/4.3.401
    • NLM

      Zatz M, Passos-Bueno MR, Cerqueira AMP, Marie SKN, Vainzof M, Pavanello RCM. Analysis of the ctg repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? [Internet]. Human Molecular Genetics. 1995 ;4 ( 3 ): 401-6.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/4.3.401
    • Vancouver

      Zatz M, Passos-Bueno MR, Cerqueira AMP, Marie SKN, Vainzof M, Pavanello RCM. Analysis of the ctg repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? [Internet]. Human Molecular Genetics. 1995 ;4 ( 3 ): 401-6.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/4.3.401
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Human Molecular Genetics, v. 4 , n. 7 , p. 1163-7, 1995Tradução . . Disponível em: https://doi.org/10.1093/hmg/4.7.1163. Acesso em: 17 jun. 2024.
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      Passos-Bueno, M. R., Moreira, E. S., Vainzof, M., Chamberlain, J., Marie, S. K. N., Pereira, L., et al. (1995). Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Human Molecular Genetics, 4 ( 7 ), 1163-7. doi:10.1093/hmg/4.7.1163
    • NLM

      Passos-Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SKN, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M. Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy [Internet]. Human Molecular Genetics. 1995 ;4 ( 7 ): 1163-7.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/4.7.1163
    • Vancouver

      Passos-Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SKN, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M. Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy [Internet]. Human Molecular Genetics. 1995 ;4 ( 7 ): 1163-7.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/4.7.1163
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy. Human Molecular Genetics, v. 3 , n. 6 , p. 919-22, 1994Tradução . . Disponível em: https://doi.org/10.1093/hmg/3.6.919. Acesso em: 17 jun. 2024.
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      Passos-Bueno, M. R., Vainzof, M., Marie, S. K. N., & Zatz, M. (1994). Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy. Human Molecular Genetics, 3 ( 6 ), 919-22. doi:10.1093/hmg/3.6.919
    • NLM

      Passos-Bueno MR, Vainzof M, Marie SKN, Zatz M. Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy [Internet]. Human Molecular Genetics. 1994 ;3 ( 6 ): 919-22.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/3.6.919
    • Vancouver

      Passos-Bueno MR, Vainzof M, Marie SKN, Zatz M. Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy [Internet]. Human Molecular Genetics. 1994 ;3 ( 6 ): 919-22.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/3.6.919
  • 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: 17 jun. 2024.
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      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 jun. 17 ] 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 jun. 17 ] Available from: https://doi.org/10.1093/hmg/2.5.557
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      VAINZOF, Mariz et al. Is the maintanance of the c-terminus domain of dystrophin enough to ensure a milder becker muscular dystrophy phenotype?. Human Molecular Genetics, v. 2 , n. 1 , p. 39-42, 1993Tradução . . Disponível em: https://doi.org/10.1093/hmg/2.1.39. Acesso em: 17 jun. 2024.
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      Vainzof, M., Takata, R. I., Passos-Bueno, M. R., Pavanello, R. C. M., & Zatz, M. (1993). Is the maintanance of the c-terminus domain of dystrophin enough to ensure a milder becker muscular dystrophy phenotype? Human Molecular Genetics, 2 ( 1 ), 39-42. doi:10.1093/hmg/2.1.39
    • NLM

      Vainzof M, Takata RI, Passos-Bueno MR, Pavanello RCM, Zatz M. Is the maintanance of the c-terminus domain of dystrophin enough to ensure a milder becker muscular dystrophy phenotype? [Internet]. Human Molecular Genetics. 1993 ;2 ( 1 ): 39-42.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/2.1.39
    • Vancouver

      Vainzof M, Takata RI, Passos-Bueno MR, Pavanello RCM, Zatz M. Is the maintanance of the c-terminus domain of dystrophin enough to ensure a milder becker muscular dystrophy phenotype? [Internet]. Human Molecular Genetics. 1993 ;2 ( 1 ): 39-42.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/2.1.39
  • 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: 17 jun. 2024.
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      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 jun. 17 ]
    • 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 jun. 17 ]
  • 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: 17 jun. 2024.
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      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 jun. 17 ] 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 jun. 17 ] Available from: https://doi.org/10.1093/hmg/2.2.201
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

    Acesso à fonteDOIHow to cite
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    • ABNT

      ROBERTS, R G et al. Point mutation in a becker muscular dystrophy patient. Human Molecular Genetics, v. 2 , n. 1 , p. 75-7, 1993Tradução . . Disponível em: https://doi.org/10.1093/hmg/2.1.75. Acesso em: 17 jun. 2024.
    • APA

      Roberts, R. G., Passos-Bueno, M. R., Bobrow, M., Vainzof, M., & Zatz, M. (1993). Point mutation in a becker muscular dystrophy patient. Human Molecular Genetics, 2 ( 1 ), 75-7. doi:10.1093/hmg/2.1.75
    • NLM

      Roberts RG, Passos-Bueno MR, Bobrow M, Vainzof M, Zatz M. Point mutation in a becker muscular dystrophy patient [Internet]. Human Molecular Genetics. 1993 ;2 ( 1 ): 75-7.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/2.1.75
    • Vancouver

      Roberts RG, Passos-Bueno MR, Bobrow M, Vainzof M, Zatz M. Point mutation in a becker muscular dystrophy patient [Internet]. Human Molecular Genetics. 1993 ;2 ( 1 ): 75-7.[citado 2024 jun. 17 ] Available from: https://doi.org/10.1093/hmg/2.1.75

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