Filtros : "ZATZ, MAYANA" "American Journal of Medical Genetics" Removido: "1934" Limpar

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

    Subjects: GENÉTICA MÉDICA, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA

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    • ABNT

      CARVALHO, Ellaine et al. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, p. on-line., 2015Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36789. Acesso em: 03 jun. 2024.
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      Carvalho, E., Honjo, R., Magalhães, M., Yamamoto, G., Rocha, K., Naslavsky, M., et al. (2015). Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, on-line. doi:10.1002/ajmg.a.36789
    • NLM

      Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.a.36789
    • Vancouver

      Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.a.36789
  • Source: American Journal of Medical Genetics. Unidade: IB

    Subjects: GENÉTICA MÉDICA, MALFORMAÇÕES, DOENÇAS HEREDITÁRIAS

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    • ABNT

      STARLING, A. et al. Further evidence for a fourth gene causing X-linked pure spastic paraplegia. American Journal of Medical Genetics, v. 111, p. 152-156, 2002Tradução . . Disponível em: https://doi.org/10.1002/ajmg.10551. Acesso em: 03 jun. 2024.
    • APA

      Starling, A., Rocco, P., Cambi, F., Hobson, G. M., Passos-Bueno, M. R., & Zatz, M. (2002). Further evidence for a fourth gene causing X-linked pure spastic paraplegia. American Journal of Medical Genetics, 111, 152-156. doi:10.1002/ajmg.10551
    • NLM

      Starling A, Rocco P, Cambi F, Hobson GM, Passos-Bueno MR, Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia [Internet]. American Journal of Medical Genetics. 2002 ; 111 152-156.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.10551
    • Vancouver

      Starling A, Rocco P, Cambi F, Hobson GM, Passos-Bueno MR, Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia [Internet]. American Journal of Medical Genetics. 2002 ; 111 152-156.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.10551
  • Source: American Journal of Medical Genetics. Unidade: IB

    Subjects: GENÉTICA MÉDICA, DISTROFIA MUSCULAR

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      PAULA, Flavia de et al. Mutations in the Caveolin-3 gene: when are they pathogenic?. American Journal of Medical Genetics, v. 99, p. 303-307, 2001Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(2001)9999:9999%3C::aid-ajmg1168%3E3.0.co;2-o. Acesso em: 03 jun. 2024.
    • APA

      Paula, F. de, Vainzof, M., Bernardino, A. L. F., McNally, E., Kunkel, L. M., & Zatz, M. (2001). Mutations in the Caveolin-3 gene: when are they pathogenic? American Journal of Medical Genetics, 99, 303-307. doi:10.1002/1096-8628(2001)9999:9999%3C::aid-ajmg1168%3E3.0.co;2-o
    • NLM

      Paula F de, Vainzof M, Bernardino ALF, McNally E, Kunkel LM, Zatz M. Mutations in the Caveolin-3 gene: when are they pathogenic? [Internet]. American Journal of Medical Genetics. 2001 ; 99 303-307.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/1096-8628(2001)9999:9999%3C::aid-ajmg1168%3E3.0.co;2-o
    • Vancouver

      Paula F de, Vainzof M, Bernardino ALF, McNally E, Kunkel LM, Zatz M. Mutations in the Caveolin-3 gene: when are they pathogenic? [Internet]. American Journal of Medical Genetics. 2001 ; 99 303-307.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/1096-8628(2001)9999:9999%3C::aid-ajmg1168%3E3.0.co;2-o
  • Source: American Journal of Medical Genetics. Unidades: FM, IB

    Assunto: NEUROLOGIA

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      ROCCO, P. et al. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. American Journal of Medical Genetics, v. 92, p. 122-7, 2000Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(20000515)92:2%3C122::aid-ajmg8%3E3.0.co;2-b. Acesso em: 03 jun. 2024.
    • APA

      Rocco, P., Vainzof, M., Froehner, S. C., Peters, M. F., Marie, S. K. N., Passos-Bueno, M. R., & Zatz, M. (2000). Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. American Journal of Medical Genetics, 92, 122-7. doi:10.1002/(sici)1096-8628(20000515)92:2%3C122::aid-ajmg8%3E3.0.co;2-b
    • NLM

      Rocco P, Vainzof M, Froehner SC, Peters MF, Marie SKN, Passos-Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin [Internet]. American Journal of Medical Genetics. 2000 ; 92 122-7.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(20000515)92:2%3C122::aid-ajmg8%3E3.0.co;2-b
    • Vancouver

      Rocco P, Vainzof M, Froehner SC, Peters MF, Marie SKN, Passos-Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin [Internet]. American Journal of Medical Genetics. 2000 ; 92 122-7.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(20000515)92:2%3C122::aid-ajmg8%3E3.0.co;2-b
  • Source: American Journal of Medical Genetics. Unidade: IB

    Subjects: GENÉTICA MÉDICA, LÁBIO FISSURADO, MUTAÇÃO GENÉTICA, POLIMORFISMO, MALFORMAÇÕES

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      GASPAR, D A et al. Role of the C677T Polymorphism at the MTHFR Gene on Risk to Nonsyndromic Cleft Lip With/Without Cleft Palate: results From a Case-Control Study in Brazil. [Carta]. American Journal of Medical Genetics. Hoboken: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1002/(SICI)1096-8628(19991119)87:2%3C197::AID-AJMG15%3E3.0.CO;2-M. Acesso em: 03 jun. 2024. , 1999
    • APA

      Gaspar, D. A., Pavanello, R. C., Zatz, M., Passos-Bueno, M. R., Andre, M., Steman, S., et al. (1999). Role of the C677T Polymorphism at the MTHFR Gene on Risk to Nonsyndromic Cleft Lip With/Without Cleft Palate: results From a Case-Control Study in Brazil. [Carta]. American Journal of Medical Genetics. Hoboken: Instituto de Biociências, Universidade de São Paulo. doi:10.1002/(SICI)1096-8628(19991119)87:2%3C197::AID-AJMG15%3E3.0.
    • NLM

      Gaspar DA, Pavanello RC, Zatz M, Passos-Bueno MR, Andre M, Steman S, Wyszynski DF, Matioli SR. Role of the C677T Polymorphism at the MTHFR Gene on Risk to Nonsyndromic Cleft Lip With/Without Cleft Palate: results From a Case-Control Study in Brazil. [Carta] [Internet]. American Journal of Medical Genetics. 1999 ; 87 197-199.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(SICI)1096-8628(19991119)87:2%3C197::AID-AJMG15%3E3.0.CO;2-M
    • Vancouver

      Gaspar DA, Pavanello RC, Zatz M, Passos-Bueno MR, Andre M, Steman S, Wyszynski DF, Matioli SR. Role of the C677T Polymorphism at the MTHFR Gene on Risk to Nonsyndromic Cleft Lip With/Without Cleft Palate: results From a Case-Control Study in Brazil. [Carta] [Internet]. American Journal of Medical Genetics. 1999 ; 87 197-199.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(SICI)1096-8628(19991119)87:2%3C197::AID-AJMG15%3E3.0.CO;2-M
  • Source: American Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      PEREIRA, Lygia da Veiga e ZATZ, Mayana. Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. [Carta]. American Journal of Medical Genetics. New York: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 03 jun. 2024. , 1999
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      Pereira, L. da V., & Zatz, M. (1999). Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. [Carta]. American Journal of Medical Genetics. New York: Instituto de Biociências, Universidade de São Paulo.
    • NLM

      Pereira L da V, Zatz M. Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. [Carta]. American Journal of Medical Genetics. 1999 ; 87 86-87.[citado 2024 jun. 03 ]
    • Vancouver

      Pereira L da V, Zatz M. Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. [Carta]. American Journal of Medical Genetics. 1999 ; 87 86-87.[citado 2024 jun. 03 ]
  • Source: American Journal of Medical Genetics. Unidade: IB

    Subjects: GENÉTICA MÉDICA, DISTROFIA MUSCULAR

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      EGGERS, Sabine et al. Genetic counseling for childless women at risk for Duchenne muscular dystrophy. American Journal of Medical Genetics, v. 86, p. 447-453, 1999Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19991029)86:5%3C447::aid-ajmg10%3E3.0.co;2-p. Acesso em: 03 jun. 2024.
    • APA

      Eggers, S., Pavanello, R. de C. M., Passos-Bueno, M. R., & Zatz, M. (1999). Genetic counseling for childless women at risk for Duchenne muscular dystrophy. American Journal of Medical Genetics, 86, 447-453. doi:10.1002/(sici)1096-8628(19991029)86:5%3C447::aid-ajmg10%3E3.0.co;2-p
    • NLM

      Eggers S, Pavanello R de CM, Passos-Bueno MR, Zatz M. Genetic counseling for childless women at risk for Duchenne muscular dystrophy [Internet]. American Journal of Medical Genetics. 1999 ; 86 447-453.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19991029)86:5%3C447::aid-ajmg10%3E3.0.co;2-p
    • Vancouver

      Eggers S, Pavanello R de CM, Passos-Bueno MR, Zatz M. Genetic counseling for childless women at risk for Duchenne muscular dystrophy [Internet]. American Journal of Medical Genetics. 1999 ; 86 447-453.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19991029)86:5%3C447::aid-ajmg10%3E3.0.co;2-p
  • Source: American Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. Seven autosomal recessive limb-girdle muscular dystrophies in the brazilian population: from LGMD2A to LGMD2G. American Journal of Medical Genetics, v. 82, p. 392-398, 1999Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19990219)82:5%3C392::aid-ajmg7%3E3.0.co;2-0. Acesso em: 03 jun. 2024.
    • APA

      Passos-Bueno, M. R., Vainzof, M., Moreira, E. S., & Zatz, M. (1999). Seven autosomal recessive limb-girdle muscular dystrophies in the brazilian population: from LGMD2A to LGMD2G. American Journal of Medical Genetics, 82, 392-398. doi:10.1002/(sici)1096-8628(19990219)82:5%3C392::aid-ajmg7%3E3.0.co;2-0
    • NLM

      Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M. Seven autosomal recessive limb-girdle muscular dystrophies in the brazilian population: from LGMD2A to LGMD2G [Internet]. American Journal of Medical Genetics. 1999 ; 82 392-398.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19990219)82:5%3C392::aid-ajmg7%3E3.0.co;2-0
    • Vancouver

      Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M. Seven autosomal recessive limb-girdle muscular dystrophies in the brazilian population: from LGMD2A to LGMD2G [Internet]. American Journal of Medical Genetics. 1999 ; 82 392-398.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19990219)82:5%3C392::aid-ajmg7%3E3.0.co;2-0
  • Source: American Journal of Medical Genetics. Unidades: IB, HRAC

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, v. 78, p. 237-241, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m. Acesso em: 03 jun. 2024.
    • APA

      Passos-Bueno, M. R., Sertié, A. L., Richieri-Costa, A., Alonso, L. G., Zatz, M., Alonso, N., et al. (1998). Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, 78, 237-241. doi:10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
    • NLM

      Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SFM. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [Internet]. American Journal of Medical Genetics. 1998 ; 78 237-241.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
    • Vancouver

      Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SFM. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [Internet]. American Journal of Medical Genetics. 1998 ; 78 237-241.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
  • Source: American Journal of Medical Genetics. Unidades: IB, FM

    Subjects: BIOLOGIA, GENÉTICA MÉDICA

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      OLIVEIRA, João R. Mendes de et al. Analysis of a novel functional polymorphism within the promoter region of the serotonin transporter gene (5-HTT) in brazilian patients affected by bipolar disorder and schizophrenia. American Journal of Medical Genetics, v. 81, p. 225-227, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19980508)81:3%3C225::aid-ajmg4%3E3.0.co;2-v. Acesso em: 03 jun. 2024.
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      Oliveira, J. R. M. de, Otto, P. A., Vallada, H., Lauriano, V., Elkis, H., Lafer, B., et al. (1998). Analysis of a novel functional polymorphism within the promoter region of the serotonin transporter gene (5-HTT) in brazilian patients affected by bipolar disorder and schizophrenia. American Journal of Medical Genetics, 81, 225-227. doi:10.1002/(sici)1096-8628(19980508)81:3%3C225::aid-ajmg4%3E3.0.co;2-v
    • NLM

      Oliveira JRM de, Otto PA, Vallada H, Lauriano V, Elkis H, Lafer B, Vasquez L, Gentil V, Passos-Bueno MR, Zatz M. Analysis of a novel functional polymorphism within the promoter region of the serotonin transporter gene (5-HTT) in brazilian patients affected by bipolar disorder and schizophrenia [Internet]. American Journal of Medical Genetics. 1998 ; 81 225-227.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980508)81:3%3C225::aid-ajmg4%3E3.0.co;2-v
    • Vancouver

      Oliveira JRM de, Otto PA, Vallada H, Lauriano V, Elkis H, Lafer B, Vasquez L, Gentil V, Passos-Bueno MR, Zatz M. Analysis of a novel functional polymorphism within the promoter region of the serotonin transporter gene (5-HTT) in brazilian patients affected by bipolar disorder and schizophrenia [Internet]. American Journal of Medical Genetics. 1998 ; 81 225-227.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980508)81:3%3C225::aid-ajmg4%3E3.0.co;2-v
  • Source: American Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      EGGERS, Sabine e ZATZ, Mayana. Social adjustment in adult males affected with progressive muscular dystrophy. American Journal of Medical Genetics, v. 81, p. 4-12, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19980207)81:1%3C4::aid-ajmg2%3E3.0.co;2-#. Acesso em: 03 jun. 2024.
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      Eggers, S., & Zatz, M. (1998). Social adjustment in adult males affected with progressive muscular dystrophy. American Journal of Medical Genetics, 81, 4-12. doi:10.1002/(sici)1096-8628(19980207)81:1%3C4::aid-ajmg2%3E3.0.co;2-#
    • NLM

      Eggers S, Zatz M. Social adjustment in adult males affected with progressive muscular dystrophy [Internet]. American Journal of Medical Genetics. 1998 ; 81 4-12.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980207)81:1%3C4::aid-ajmg2%3E3.0.co;2-#
    • Vancouver

      Eggers S, Zatz M. Social adjustment in adult males affected with progressive muscular dystrophy [Internet]. American Journal of Medical Genetics. 1998 ; 81 4-12.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980207)81:1%3C4::aid-ajmg2%3E3.0.co;2-#
  • Source: American Journal of Medical Genetics. Unidades: IB, FM

    Assunto: DOENÇAS DEGENERATIVAS

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      IUGHETTI, Paula et al. Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) Families. American Journal of Medical Genetics, v. 77, n. 3, p. 246-248, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19980518)77:3%3C246::aid-ajmg11%3E3.3.co;2-t. Acesso em: 03 jun. 2024.
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      Iughetti, P., Otto, P. A., Zatz, M., Passos-Bueno, M. R., & Marie, S. K. N. (1998). Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) Families. American Journal of Medical Genetics, 77( 3), 246-248. doi:10.1002/(sici)1096-8628(19980518)77:3%3C246::aid-ajmg11%3E3.3.co;2-t
    • NLM

      Iughetti P, Otto PA, Zatz M, Passos-Bueno MR, Marie SKN. Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) Families [Internet]. American Journal of Medical Genetics. 1998 ; 77( 3): 246-248.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980518)77:3%3C246::aid-ajmg11%3E3.3.co;2-t
    • Vancouver

      Iughetti P, Otto PA, Zatz M, Passos-Bueno MR, Marie SKN. Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) Families [Internet]. American Journal of Medical Genetics. 1998 ; 77( 3): 246-248.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980518)77:3%3C246::aid-ajmg11%3E3.3.co;2-t
  • Source: American Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      ZATZ, Mayana et al. Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases. American Journal of Medical Genetics, v. 78, p. 361-365, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19980724)78:4%3C361::aid-ajmg11%3E3.0.co;2-g. Acesso em: 03 jun. 2024.
    • APA

      Zatz, M., Sumita, D., Campiotto, S., Canovas, M., Cerqueira, A., Vainzof, M., & Passos-Bueno, M. R. (1998). Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases. American Journal of Medical Genetics, 78, 361-365. doi:10.1002/(sici)1096-8628(19980724)78:4%3C361::aid-ajmg11%3E3.0.co;2-g
    • NLM

      Zatz M, Sumita D, Campiotto S, Canovas M, Cerqueira A, Vainzof M, Passos-Bueno MR. Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases [Internet]. American Journal of Medical Genetics. 1998 ; 78 361-365.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980724)78:4%3C361::aid-ajmg11%3E3.0.co;2-g
    • Vancouver

      Zatz M, Sumita D, Campiotto S, Canovas M, Cerqueira A, Vainzof M, Passos-Bueno MR. Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases [Internet]. American Journal of Medical Genetics. 1998 ; 78 361-365.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980724)78:4%3C361::aid-ajmg11%3E3.0.co;2-g
  • Source: American Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      SUMITA, Denilce Ritsuko et al. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. American Journal of Medical Genetics, v. 80, p. 356-361, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19981204)80:4%3C356::aid-ajmg10%3E3.3.co;2-f. Acesso em: 03 jun. 2024.
    • APA

      Sumita, D. R., Vainzof, M., Campiotto, S., Cerqueira, A. M., Canovas, M., Otto, P. A., et al. (1998). Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. American Journal of Medical Genetics, 80, 356-361. doi:10.1002/(sici)1096-8628(19981204)80:4%3C356::aid-ajmg10%3E3.3.co;2-f
    • NLM

      Sumita DR, Vainzof M, Campiotto S, Cerqueira AM, Canovas M, Otto PA, Passos-Bueno MR, Zatz M. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers [Internet]. American Journal of Medical Genetics. 1998 ; 80 356-361.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19981204)80:4%3C356::aid-ajmg10%3E3.3.co;2-f
    • Vancouver

      Sumita DR, Vainzof M, Campiotto S, Cerqueira AM, Canovas M, Otto PA, Passos-Bueno MR, Zatz M. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers [Internet]. American Journal of Medical Genetics. 1998 ; 80 356-361.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19981204)80:4%3C356::aid-ajmg10%3E3.3.co;2-f
  • Source: American Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      RABBI-BORTOLINI, Eliete et al. Sweat electrolyte and cystic fribrosis mutation analysis allows early diagnosis in brazilian children with clinical signs compatible with cystic fibrosis. American Journal of Medical Genetics, v. 76, p. 288-290, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19980401)76:4%3C288::aid-ajmg2%3E3.3.co;2-q. Acesso em: 03 jun. 2024.
    • APA

      Rabbi-Bortolini, E., Bernardino, A. L. F., Lopes, A. L., Ferri, A. da S., Passos-Bueno, M. R., & Zatz, M. (1998). Sweat electrolyte and cystic fribrosis mutation analysis allows early diagnosis in brazilian children with clinical signs compatible with cystic fibrosis. American Journal of Medical Genetics, 76, 288-290. doi:10.1002/(sici)1096-8628(19980401)76:4%3C288::aid-ajmg2%3E3.3.co;2-q
    • NLM

      Rabbi-Bortolini E, Bernardino ALF, Lopes AL, Ferri A da S, Passos-Bueno MR, Zatz M. Sweat electrolyte and cystic fribrosis mutation analysis allows early diagnosis in brazilian children with clinical signs compatible with cystic fibrosis [Internet]. American Journal of Medical Genetics. 1998 ; 76 288-290.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980401)76:4%3C288::aid-ajmg2%3E3.3.co;2-q
    • Vancouver

      Rabbi-Bortolini E, Bernardino ALF, Lopes AL, Ferri A da S, Passos-Bueno MR, Zatz M. Sweat electrolyte and cystic fribrosis mutation analysis allows early diagnosis in brazilian children with clinical signs compatible with cystic fibrosis [Internet]. American Journal of Medical Genetics. 1998 ; 76 288-290.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980401)76:4%3C288::aid-ajmg2%3E3.3.co;2-q
  • Source: American Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      VAINZOF, Mariz et al. Absence of correlation between utrophin localization and quantity and the clinical severity in duchenne / becker dystrophies. American Journal of Medical Genetics, v. 58, n. 4 , p. 305-9, 1995Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320580403. Acesso em: 03 jun. 2024.
    • APA

      Vainzof, M., Passos-Bueno, M. R., Man, N., & Zatz, M. (1995). Absence of correlation between utrophin localization and quantity and the clinical severity in duchenne / becker dystrophies. American Journal of Medical Genetics, 58( 4 ), 305-9. doi:10.1002/ajmg.1320580403
    • NLM

      Vainzof M, Passos-Bueno MR, Man N, Zatz M. Absence of correlation between utrophin localization and quantity and the clinical severity in duchenne / becker dystrophies [Internet]. American Journal of Medical Genetics. 1995 ;58( 4 ): 305-9.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.1320580403
    • Vancouver

      Vainzof M, Passos-Bueno MR, Man N, Zatz M. Absence of correlation between utrophin localization and quantity and the clinical severity in duchenne / becker dystrophies [Internet]. American Journal of Medical Genetics. 1995 ;58( 4 ): 305-9.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.1320580403
  • Source: American Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      PASSOS-BUENO, Maria Rita et al. Knobloch syndrome in a large brazilian consanguineous family: confirmation of autosomal recessive inheritance. American Journal of Medical Genetics, v. 52, n. 2 , p. 170-3, 1994Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320520209. Acesso em: 03 jun. 2024.
    • APA

      Passos-Bueno, M. R., Marie, S. K. N., Monteiro, M., Neustein, I., Whittle, M. R., Vainzof, M., & Zatz, M. (1994). Knobloch syndrome in a large brazilian consanguineous family: confirmation of autosomal recessive inheritance. American Journal of Medical Genetics, 52( 2 ), 170-3. doi:10.1002/ajmg.1320520209
    • NLM

      Passos-Bueno MR, Marie SKN, Monteiro M, Neustein I, Whittle MR, Vainzof M, Zatz M. Knobloch syndrome in a large brazilian consanguineous family: confirmation of autosomal recessive inheritance [Internet]. American Journal of Medical Genetics. 1994 ;52( 2 ): 170-3.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.1320520209
    • Vancouver

      Passos-Bueno MR, Marie SKN, Monteiro M, Neustein I, Whittle MR, Vainzof M, Zatz M. Knobloch syndrome in a large brazilian consanguineous family: confirmation of autosomal recessive inheritance [Internet]. American Journal of Medical Genetics. 1994 ;52( 2 ): 170-3.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.1320520209
  • Source: American Journal of Medical Genetics. Unidade: IB

    Assunto: DISTROFIA MUSCULAR

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    • ABNT

      ZATZ, Mayana e PASSOS-BUENO, Maria Rita e VAINZOF, Mariz. Transposon-like element in the dystrophin gene. [Carta ao editor]. American Journal of Medical Genetics. New York: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 03 jun. 2024. , 1993
    • APA

      Zatz, M., Passos-Bueno, M. R., & Vainzof, M. (1993). Transposon-like element in the dystrophin gene. [Carta ao editor]. American Journal of Medical Genetics. New York: Instituto de Biociências, Universidade de São Paulo.
    • NLM

      Zatz M, Passos-Bueno MR, Vainzof M. Transposon-like element in the dystrophin gene. [Carta ao editor]. American Journal of Medical Genetics. 1993 ; 46( 5): 601.[citado 2024 jun. 03 ]
    • Vancouver

      Zatz M, Passos-Bueno MR, Vainzof M. Transposon-like element in the dystrophin gene. [Carta ao editor]. American Journal of Medical Genetics. 1993 ; 46( 5): 601.[citado 2024 jun. 03 ]
  • Source: American Journal of Medical Genetics. Unidade: IB

    Subjects: RETARDO MENTAL, HETEROGENEIDADE, CROMOSSOMO X

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    • 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, p. 172-175, 1993Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320460214. Acesso em: 03 jun. 2024.
    • APA

      Passos-Bueno, M. R., Byth, B. C., Rosenberg, 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, 172-175. doi:10.1002/ajmg.1320460214
    • NLM

      Passos-Bueno MR, Byth BC, Rosenberg S, Takata RI, Bakker E, Beggs AH, Pavanello RC, 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 ; 46 172-175.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.1320460214
    • Vancouver

      Passos-Bueno MR, Byth BC, Rosenberg S, Takata RI, Bakker E, Beggs AH, Pavanello RC, 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 ; 46 172-175.[citado 2024 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.1320460214
  • Source: American Journal of Medical Genetics. Unidades: FM, IB

    Assunto: GENÉTICA MÉDICA

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    • 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: 03 jun. 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 jun. 03 ] 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 jun. 03 ] Available from: https://doi.org/10.1002/ajmg.1320460214

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