Filtros : "Pavanello, R C M" Removido: "Português" Limpar

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  • Source: Neuromuscular Disorders. Conference titles: International Congress of the World Muscle Society. Unidade: IB

    Subjects: PERDA AUDITIVA, MUTAÇÃO GENÉTICA, ACONSELHAMENTO GENÉTICO

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    • ABNT

      ZATZ, Mayana et al. How to deal with unexpected mutations in healthy persons. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1016/j.nmd.2011.06.823. Acesso em: 14 out. 2025. , 2011
    • APA

      Zatz, M., Pavanello, R. C. M., Lazar, M., Rocha, K. M., Takahashi, V. N., & Vainzof, M. (2011). How to deal with unexpected mutations in healthy persons. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. doi:10.1016/j.nmd.2011.06.823
    • NLM

      Zatz M, Pavanello RCM, Lazar M, Rocha KM, Takahashi VN, Vainzof M. How to deal with unexpected mutations in healthy persons [Internet]. Neuromuscular Disorders. 2011 ; 21( 9-10): 660.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2011.06.823
    • Vancouver

      Zatz M, Pavanello RCM, Lazar M, Rocha KM, Takahashi VN, Vainzof M. How to deal with unexpected mutations in healthy persons [Internet]. Neuromuscular Disorders. 2011 ; 21( 9-10): 660.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2011.06.823
  • Source: Neuromuscular Disorders. Conference titles: International Congress of the World Muscle Society. Unidade: IB

    Subjects: DISTROFIA MUSCULAR, MACROGLOSSIA, DISTROFIA MUSCULAR

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    • ABNT

      VAINZOF, Mariz et al. A new form of myopathy associated with muscle hypertrophy, short stature, macroglossia and brachydactyly. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1016/j.nmd.2011.06.834. Acesso em: 14 out. 2025. , 2011
    • APA

      Vainzof, M., Gurgel Giannetti, J., Bertola, D. R., Pavanello, R. C. M., Oliveira, A. B., Rosenberg, C., et al. (2011). A new form of myopathy associated with muscle hypertrophy, short stature, macroglossia and brachydactyly. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. doi:10.1016/j.nmd.2011.06.834
    • NLM

      Vainzof M, Gurgel Giannetti J, Bertola DR, Pavanello RCM, Oliveira AB, Rosenberg C, Kok F, Almeida CF, Martins-Bach AB, Zatz M. A new form of myopathy associated with muscle hypertrophy, short stature, macroglossia and brachydactyly [Internet]. Neuromuscular Disorders. 2011 ; 21( 9): 664 res. P2.11.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2011.06.834
    • Vancouver

      Vainzof M, Gurgel Giannetti J, Bertola DR, Pavanello RCM, Oliveira AB, Rosenberg C, Kok F, Almeida CF, Martins-Bach AB, Zatz M. A new form of myopathy associated with muscle hypertrophy, short stature, macroglossia and brachydactyly [Internet]. Neuromuscular Disorders. 2011 ; 21( 9): 664 res. P2.11.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/j.nmd.2011.06.834
  • Source: Journal of Medical Genetics. Unidade: IB

    Subjects: GENÉTICA MÉDICA, MALFORMAÇÕES, DOENÇAS MUSCULOSQUELÉTICAS, DISTROFIA MUSCULAR

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      TONINI, M. M. O et al. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype. Journal of Medical Genetics, v. 41, n. 2, 2004Tradução . . Disponível em: https://doi.org/10.1136/jmg.2003.010637. Acesso em: 14 out. 2025.
    • APA

      Tonini, M. M. O., Pavanello, R. C. M., Gurgel-Giannetti, J., Lemmers, R. J., Maarel, S. M. van der, Frants, R. R., & Zatz, M. (2004). Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype. Journal of Medical Genetics, 41( 2). doi:10.1136/jmg.2003.010637
    • NLM

      Tonini MMO, Pavanello RCM, Gurgel-Giannetti J, Lemmers RJ, Maarel SM van der, Frants RR, Zatz M. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype [Internet]. Journal of Medical Genetics. 2004 ; 41( 2):[citado 2025 out. 14 ] Available from: https://doi.org/10.1136/jmg.2003.010637
    • Vancouver

      Tonini MMO, Pavanello RCM, Gurgel-Giannetti J, Lemmers RJ, Maarel SM van der, Frants RR, Zatz M. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype [Internet]. Journal of Medical Genetics. 2004 ; 41( 2):[citado 2025 out. 14 ] Available from: https://doi.org/10.1136/jmg.2003.010637
  • Source: Investigative Ophthalmology and Vision Science. Conference titles: Annual Meeting of the Association for Research in Vision and Ophthalmolgy of Genetic. Unidade: IP

    Subjects: NEUROFTALMOLOGIA, VISÃO, DIAGNÓSTICO

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    • ABNT

      COSTA, Marcelo Fernandes da et al. Color vision phenotype in duchenne muscle dystrophy. Investigative Ophthalmology and Vision Science. Lauderdale: Instituto de Psicologia, Universidade de São Paulo. . Acesso em: 14 out. 2025. , 2004
    • APA

      Costa, M. F. da, Pavanello, R. C. M., Cerqueira, A., & Zatz, M. (2004). Color vision phenotype in duchenne muscle dystrophy. Investigative Ophthalmology and Vision Science. Lauderdale: Instituto de Psicologia, Universidade de São Paulo.
    • NLM

      Costa MF da, Pavanello RCM, Cerqueira A, Zatz M. Color vision phenotype in duchenne muscle dystrophy. Investigative Ophthalmology and Vision Science. 2004 ; 45 E-Abstract 4332.[citado 2025 out. 14 ]
    • Vancouver

      Costa MF da, Pavanello RCM, Cerqueira A, Zatz M. Color vision phenotype in duchenne muscle dystrophy. Investigative Ophthalmology and Vision Science. 2004 ; 45 E-Abstract 4332.[citado 2025 out. 14 ]
  • Source: American Journal of Human Genetics. Conference titles: American Society of Human Genetics. Unidades: FO, IB

    Assunto: GENÉTICA MÉDICA

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      GASPAR, D A et al. Heterozygote advantage of the MTHFR gene: are heterozygous C677T/MTHFR womem at lower risk of having children with nonsyndromic cleft lip with/without cleft palate?. American Journal of Human Genetics. San Francisco: Faculdade de Odontologia, Universidade de São Paulo. . Acesso em: 14 out. 2025. , 1999
    • APA

      Gaspar, D. A., Pavanello, R. C. M., André, M., Steman, S., Zatz, M., Wyszynski, D. F., et al. (1999). Heterozygote advantage of the MTHFR gene: are heterozygous C677T/MTHFR womem at lower risk of having children with nonsyndromic cleft lip with/without cleft palate? American Journal of Human Genetics. San Francisco: Faculdade de Odontologia, Universidade de São Paulo.
    • NLM

      Gaspar DA, Pavanello RCM, André M, Steman S, Zatz M, Wyszynski DF, Matioli SR, Passos-Bueno MR. Heterozygote advantage of the MTHFR gene: are heterozygous C677T/MTHFR womem at lower risk of having children with nonsyndromic cleft lip with/without cleft palate? American Journal of Human Genetics. 1999 ; 65( 4):[citado 2025 out. 14 ]
    • Vancouver

      Gaspar DA, Pavanello RCM, André M, Steman S, Zatz M, Wyszynski DF, Matioli SR, Passos-Bueno MR. Heterozygote advantage of the MTHFR gene: are heterozygous C677T/MTHFR womem at lower risk of having children with nonsyndromic cleft lip with/without cleft palate? American Journal of Human Genetics. 1999 ; 65( 4):[citado 2025 out. 14 ]
  • Source: Neuromuscular disorders. Conference titles: International Congress of the World Muscle Society. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      VAINZOF, Mariz et al. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy. Neuromuscular disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 14 out. 2025. , 1998
    • APA

      Vainzof, M., Passos-Bueno, M. R., Pavanello, R. C. M., Marie, S. K. N., Oliveira, A. S. B., & Zatz, M. (1998). Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy. Neuromuscular disorders. Oxford: Instituto de Biociências, Universidade de São Paulo.
    • NLM

      Vainzof M, Passos-Bueno MR, Pavanello RCM, Marie SKN, Oliveira ASB, Zatz M. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy. Neuromuscular disorders. 1998 ; 8( 3/4):[citado 2025 out. 14 ]
    • Vancouver

      Vainzof M, Passos-Bueno MR, Pavanello RCM, Marie SKN, Oliveira ASB, Zatz M. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy. Neuromuscular disorders. 1998 ; 8( 3/4):[citado 2025 out. 14 ]
  • Source: Abstracts. Conference titles: Limb Girdle Muscular Dystrophies Genetics Workshop. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      BONNEMANN, C G et al. Genomic screening for beta and gamma-sarcoglycan gene mutations. 1996, Anais.. Tunis: Instituto de Biociências, Universidade de São Paulo, 1996. . Acesso em: 14 out. 2025.
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      Bonnemann, C. G., Mcnally, E. M., Passos-Bueno, M. R., Vainzof, M., Moreira, E. S., Pavanello, R. C. M., et al. (1996). Genomic screening for beta and gamma-sarcoglycan gene mutations. In Abstracts. Tunis: Instituto de Biociências, Universidade de São Paulo.
    • NLM

      Bonnemann CG, Mcnally EM, Passos-Bueno MR, Vainzof M, Moreira ES, Pavanello RCM, Marie SKN, Othmane KB, Denton PH, Vance JM, Noguchi S, Ozawa E. Genomic screening for beta and gamma-sarcoglycan gene mutations. Abstracts. 1996 ;[citado 2025 out. 14 ]
    • Vancouver

      Bonnemann CG, Mcnally EM, Passos-Bueno MR, Vainzof M, Moreira ES, Pavanello RCM, Marie SKN, Othmane KB, Denton PH, Vance JM, Noguchi S, Ozawa E. Genomic screening for beta and gamma-sarcoglycan gene mutations. Abstracts. 1996 ;[citado 2025 out. 14 ]
  • 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: 14 out. 2025.
    • APA

      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 2025 out. 14 ]
    • 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 2025 out. 14 ]
  • Source: Journal of the Neurological Sciences. Unidade: IB

    Subjects: GENÉTICA MÉDICA, NEUROLOGIA

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      VAINZOF, Mariz et al. Is dystrophin always altered in becker muscular dystrophy patients?. Journal of the Neurological Sciences, v. 131, p. 99-104, 1995Tradução . . Disponível em: https://doi.org/10.1016/0022-510x(95)00104-a. Acesso em: 14 out. 2025.
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      Vainzof, M., Passos-Bueno, M. R., Pavanello, R. C. M., & Zatz, M. (1995). Is dystrophin always altered in becker muscular dystrophy patients? Journal of the Neurological Sciences, 131, 99-104. doi:10.1016/0022-510x(95)00104-a
    • NLM

      Vainzof M, Passos-Bueno MR, Pavanello RCM, Zatz M. Is dystrophin always altered in becker muscular dystrophy patients? [Internet]. Journal of the Neurological Sciences. 1995 ;131 99-104.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/0022-510x(95)00104-a
    • Vancouver

      Vainzof M, Passos-Bueno MR, Pavanello RCM, Zatz M. Is dystrophin always altered in becker muscular dystrophy patients? [Internet]. Journal of the Neurological Sciences. 1995 ;131 99-104.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/0022-510x(95)00104-a
  • 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: 14 out. 2025.
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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 2025 out. 14 ] 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 2025 out. 14 ] Available from: https://doi.org/10.1093/hmg/4.3.401
  • Source: Neuropediatrics. Unidades: IB, FM

    Assunto: GENÉTICA MÉDICA

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      VAINZOF, Mariz et al. Deficiency of merosin (laminin m or 'ALFA'2) in congenital muscular dystrophy associated with cerebral white matter alterations. Neuropediatrics, v. 26, p. 293-7, 1995Tradução . . Acesso em: 14 out. 2025.
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      Vainzof, M., Marie, S. K. N., Reed, U. C., Schwartzman, J. S., Pavanello, R. C. M., Passos-Bueno, M. R., & Zatz, M. (1995). Deficiency of merosin (laminin m or 'ALFA'2) in congenital muscular dystrophy associated with cerebral white matter alterations. Neuropediatrics, 26, 293-7.
    • NLM

      Vainzof M, Marie SKN, Reed UC, Schwartzman JS, Pavanello RCM, Passos-Bueno MR, Zatz M. Deficiency of merosin (laminin m or 'ALFA'2) in congenital muscular dystrophy associated with cerebral white matter alterations. Neuropediatrics. 1995 ;26 293-7.[citado 2025 out. 14 ]
    • Vancouver

      Vainzof M, Marie SKN, Reed UC, Schwartzman JS, Pavanello RCM, Passos-Bueno MR, Zatz M. Deficiency of merosin (laminin m or 'ALFA'2) in congenital muscular dystrophy associated with cerebral white matter alterations. Neuropediatrics. 1995 ;26 293-7.[citado 2025 out. 14 ]
  • Source: Journal of the Neurological Sciences. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      ZATZ, Mayana et al. Assessment of the 50-kda dystrophin-associated glycoprotein in brazilian patients with severe childhood autosomal recessive muscular dystrophy. Journal of the Neurological Sciences, v. 123, p. 122-8, 1994Tradução . . Disponível em: https://doi.org/10.1016/0022-510x(94)90213-5. Acesso em: 14 out. 2025.
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      Zatz, M., Matsumura, K., Vainzof, M., Passos-Bueno, M. R., Pavanello, R. C. M., Marie, S. K. N., & Campbell, K. P. (1994). Assessment of the 50-kda dystrophin-associated glycoprotein in brazilian patients with severe childhood autosomal recessive muscular dystrophy. Journal of the Neurological Sciences, 123, 122-8. doi:10.1016/0022-510x(94)90213-5
    • NLM

      Zatz M, Matsumura K, Vainzof M, Passos-Bueno MR, Pavanello RCM, Marie SKN, Campbell KP. Assessment of the 50-kda dystrophin-associated glycoprotein in brazilian patients with severe childhood autosomal recessive muscular dystrophy [Internet]. Journal of the Neurological Sciences. 1994 ;123 122-8.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/0022-510x(94)90213-5
    • Vancouver

      Zatz M, Matsumura K, Vainzof M, Passos-Bueno MR, Pavanello RCM, Marie SKN, Campbell KP. Assessment of the 50-kda dystrophin-associated glycoprotein in brazilian patients with severe childhood autosomal recessive muscular dystrophy [Internet]. Journal of the Neurological Sciences. 1994 ;123 122-8.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/0022-510x(94)90213-5
  • 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. Correlation between ctg trinucleotide repeat length and clinical picture in brazilian patients affected with myotonic dystrophy. Canadian Journal of Neurological Sciences. Calgary: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 14 out. 2025. , 1993
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      Passos-Bueno, M. R., Cerqueira, A., Takata, R. I., Pavanello, R. C. M., Eggers, S., Marie, S. K. N., et al. (1993). Correlation between ctg trinucleotide repeat length and clinical picture in brazilian patients affected with myotonic dystrophy. Canadian Journal of Neurological Sciences. Calgary: Faculdade de Medicina, Universidade de São Paulo.
    • NLM

      Passos-Bueno MR, Cerqueira A, Takata RI, Pavanello RCM, Eggers S, Marie SKN, Levy JA, Zatz M. Correlation between ctg trinucleotide repeat length and clinical picture in brazilian patients affected with myotonic dystrophy. Canadian Journal of Neurological Sciences. 1993 ;20( suppl.4): s30.[citado 2025 out. 14 ]
    • Vancouver

      Passos-Bueno MR, Cerqueira A, Takata RI, Pavanello RCM, Eggers S, Marie SKN, Levy JA, Zatz M. Correlation between ctg trinucleotide repeat length and clinical picture in brazilian patients affected with myotonic dystrophy. Canadian Journal of Neurological Sciences. 1993 ;20( suppl.4): s30.[citado 2025 out. 14 ]
  • Source: Journal of the Neurological Sciences. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      VAINZOF, Mariz et al. Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype. Journal of the Neurological Sciences, v. 119, p. 38-42, 1993Tradução . . Disponível em: https://doi.org/10.1016/0022-510x(93)90189-6. Acesso em: 14 out. 2025.
    • APA

      Vainzof, M., Passos-Bueno, M. R., Takata, R. I., Pavanello, R. C. M., & Zatz, M. (1993). Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype. Journal of the Neurological Sciences, 119, 38-42. doi:10.1016/0022-510x(93)90189-6
    • NLM

      Vainzof M, Passos-Bueno MR, Takata RI, Pavanello RCM, Zatz M. Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype [Internet]. Journal of the Neurological Sciences. 1993 ;119 38-42.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/0022-510x(93)90189-6
    • Vancouver

      Vainzof M, Passos-Bueno MR, Takata RI, Pavanello RCM, Zatz M. Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype [Internet]. Journal of the Neurological Sciences. 1993 ;119 38-42.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/0022-510x(93)90189-6
  • 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: 14 out. 2025.
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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 2025 out. 14 ] 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 2025 out. 14 ] 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: 14 out. 2025.
    • APA

      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 2025 out. 14 ] 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 2025 out. 14 ] Available from: https://doi.org/10.1093/hmg/2.1.39
  • 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: 14 out. 2025. , 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 2025 out. 14 ]
    • 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 2025 out. 14 ]
  • Source: Human Molecular Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

    Acesso à fonteDOIHow to cite
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    • ABNT

      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: 14 out. 2025.
    • 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 2025 out. 14 ] 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 2025 out. 14 ] Available from: https://doi.org/10.1093/hmg/2.2.201
  • Source: Neuromuscular Disorders. Unidades: IB, FM

    Assunto: GENÉTICA MÉDICA

    Acesso à fonteDOIHow to cite
    A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
    • ABNT

      VAINZOF, Mariz et al. Sarcolemmal distribution of abnormal dystrophin in xp21 carriers. Neuromuscular Disorders, v. 3 , n. 2 , p. 135-40, 1993Tradução . . Disponível em: https://doi.org/10.1016/0960-8966(93)90005-5. Acesso em: 14 out. 2025.
    • APA

      Vainzof, M., Nicholson, L. V. B., Bulman, D. E., Tsanaclis, A. M. C., Passos-Bueno, M. R., Pavanello, R. C. M., & Zatz, M. (1993). Sarcolemmal distribution of abnormal dystrophin in xp21 carriers. Neuromuscular Disorders, 3 ( 2 ), 135-40. doi:10.1016/0960-8966(93)90005-5
    • NLM

      Vainzof M, Nicholson LVB, Bulman DE, Tsanaclis AMC, Passos-Bueno MR, Pavanello RCM, Zatz M. Sarcolemmal distribution of abnormal dystrophin in xp21 carriers [Internet]. Neuromuscular Disorders. 1993 ;3 ( 2 ): 135-40.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/0960-8966(93)90005-5
    • Vancouver

      Vainzof M, Nicholson LVB, Bulman DE, Tsanaclis AMC, Passos-Bueno MR, Pavanello RCM, Zatz M. Sarcolemmal distribution of abnormal dystrophin in xp21 carriers [Internet]. Neuromuscular Disorders. 1993 ;3 ( 2 ): 135-40.[citado 2025 out. 14 ] Available from: https://doi.org/10.1016/0960-8966(93)90005-5
  • Source: American Journal of Medical Genetics. Unidades: FM, IB

    Assunto: GENÉTICA MÉDICA

    Acesso à fonteDOIHow to cite
    A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
    • ABNT

      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: 14 out. 2025.
    • 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 2025 out. 14 ] 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 2025 out. 14 ] Available from: https://doi.org/10.1002/ajmg.1320460214

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