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  • Source: Journal of Medical Genetics. Unidade: IB

    Assunto: DOENÇAS HEREDITÁRIAS

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    • ABNT

      ZATZ, Mayana e PENHA-SERRANO, Creuza e OTTO, Paulo A. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. Journal of Medical Genetics, v. 13, n. 3, p. 217-222, 1976Tradução . . Disponível em: https://doi.org/10.1136/jmg.13.3.217. Acesso em: 29 mar. 2024.
    • APA

      Zatz, M., Penha-Serrano, C., & Otto, P. A. (1976). X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. Journal of Medical Genetics, 13( 3), 217-222. doi:10.1136/jmg.13.3.217
    • NLM

      Zatz M, Penha-Serrano C, Otto PA. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg [Internet]. Journal of Medical Genetics. 1976 ; 13( 3): 217-222.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.13.3.217
    • Vancouver

      Zatz M, Penha-Serrano C, Otto PA. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg [Internet]. Journal of Medical Genetics. 1976 ; 13( 3): 217-222.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.13.3.217
  • Source: Journal of Medical Genetics. Unidade: IB

    Subjects: CRANIOSSINOSTOSE, ANORMALIDADES CRANIOFACIAIS, DOENÇAS CONGÊNITAS, MUTAÇÃO GENÉTICA

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    • ABNT

      CALPENA, Eduardo et al. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics, 2021Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2020-107459. Acesso em: 29 mar. 2024.
    • APA

      Calpena, E., Wurmser, M., McGowan, S. J., Atique, R., Bertola, D. R., Cunningham , M. L., et al. (2021). Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics. doi:10.1136/jmedgenet-2020-107459
    • NLM

      Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459
    • Vancouver

      Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459
  • Source: Journal of Medical Genetics. Unidade: IB

    Assunto: DOENÇAS GENÉTICAS

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      MAGNELLI, Norma C. et al. Turner's syndrome and 46,X,i(Yq) karyotype. Journal of Medical Genetics, v. 11, p. 403-406, 1974Tradução . . Disponível em: https://doi.org/10.1136/jmg.11.4.403. Acesso em: 29 mar. 2024.
    • APA

      Magnelli, N. C., Vianna-Morgante, A. M., Frota-Pessoa, O., & Taboada-Lopez, M. G. (1974). Turner's syndrome and 46,X,i(Yq) karyotype. Journal of Medical Genetics, 11, 403-406. doi:10.1136/jmg.11.4.403
    • NLM

      Magnelli NC, Vianna-Morgante AM, Frota-Pessoa O, Taboada-Lopez MG. Turner's syndrome and 46,X,i(Yq) karyotype [Internet]. Journal of Medical Genetics. 1974 ; 11 403-406.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.11.4.403
    • Vancouver

      Magnelli NC, Vianna-Morgante AM, Frota-Pessoa O, Taboada-Lopez MG. Turner's syndrome and 46,X,i(Yq) karyotype [Internet]. Journal of Medical Genetics. 1974 ; 11 403-406.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.11.4.403
  • Source: Journal of Medical Genetics. Unidades: IB, FM

    Subjects: DOENÇAS GENÉTICAS, DISTROFIA MUSCULAR

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      ZATZ, Mayana et al. Traslocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. Journal of Medical Genetics, v. 18, p. 442-447, 1981Tradução . . Disponível em: https://doi.org/10.1136/jmg.18.6.442. Acesso em: 29 mar. 2024.
    • APA

      Zatz, M., Vianna-Morgante, A. M., Campos, P., & Diament, A. J. (1981). Traslocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. Journal of Medical Genetics, 18, 442-447. doi:10.1136/jmg.18.6.442
    • NLM

      Zatz M, Vianna-Morgante AM, Campos P, Diament AJ. Traslocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus [Internet]. Journal of Medical Genetics. 1981 ; 18 442-447.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.18.6.442
    • Vancouver

      Zatz M, Vianna-Morgante AM, Campos P, Diament AJ. Traslocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus [Internet]. Journal of Medical Genetics. 1981 ; 18 442-447.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.18.6.442
  • Source: Journal of Medical Genetics. Unidades: IB, HRAC

    Subjects: ANORMALIDADES CROMOSSÔMICAS, ANORMALIDADES CONGÊNITAS

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      BATISTA, Denise Aparecida dos Santos e VIANNA-MORGANTE, Angela M e RICHIERI-COSTA, Antonio. Tetrasomy 18p: tentative delineation of a syndrome. Journal of Medical Genetics, v. 20, n. 2, p. 144-147, 1983Tradução . . Disponível em: https://doi.org/10.1136/jmg.20.2.144. Acesso em: 29 mar. 2024.
    • APA

      Batista, D. A. dos S., Vianna-Morgante, A. M., & Richieri-Costa, A. (1983). Tetrasomy 18p: tentative delineation of a syndrome. Journal of Medical Genetics, 20( 2), 144-147. doi:10.1136/jmg.20.2.144
    • NLM

      Batista DA dos S, Vianna-Morgante AM, Richieri-Costa A. Tetrasomy 18p: tentative delineation of a syndrome [Internet]. Journal of Medical Genetics. 1983 ; 20( 2): 144-147.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.20.2.144
    • Vancouver

      Batista DA dos S, Vianna-Morgante AM, Richieri-Costa A. Tetrasomy 18p: tentative delineation of a syndrome [Internet]. Journal of Medical Genetics. 1983 ; 20( 2): 144-147.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.20.2.144
  • Source: Journal of Medical Genetics. Unidade: HRAC

    Subjects: MUTAÇÃO GENÉTICA, FISSURA PALATINA

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      MARÇANO, Ana Carolina Braga et al. TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics, v. 41, n. Ja 2004, p. 68-74, 2004Tradução . . Acesso em: 29 mar. 2024.
    • APA

      Marçano, A. C. B., Doudney, K., Braybrook, C., Squires, R., Patton, M. A., Lees, M. M., et al. (2004). TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics, 41( Ja 2004), 68-74.
    • NLM

      Marçano ACB, Doudney K, Braybrook C, Squires R, Patton MA, Lees MM, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P. TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics. 2004 ; 41( Ja 2004): 68-74.[citado 2024 mar. 29 ]
    • Vancouver

      Marçano ACB, Doudney K, Braybrook C, Squires R, Patton MA, Lees MM, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P. TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics. 2004 ; 41( Ja 2004): 68-74.[citado 2024 mar. 29 ]
  • Source: Journal of Medical Genetics. Unidade: IB

    Subjects: DOENÇAS GENÉTICAS, GENÉTICA DE POPULAÇÕES, DISTROFIA MUSCULAR, GENÉTICA MOLECULAR

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      ZATZ, Mayana et al. Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families. Journal of Medical Genetics, v. 34, n. 9, p. 790-791, 1997Tradução . . Disponível em: https://doi.org/10.1136/jmg.34.9.790. Acesso em: 29 mar. 2024.
    • APA

      Zatz, M., Cerqueira, A., Vainzof, M., & Passos-Bueno, M. R. (1997). Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families. Journal of Medical Genetics, 34( 9), 790-791. doi:10.1136/jmg.34.9.790
    • NLM

      Zatz M, Cerqueira A, Vainzof M, Passos-Bueno MR. Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families [Internet]. Journal of Medical Genetics. 1997 ; 34( 9): 790-791.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.34.9.790
    • Vancouver

      Zatz M, Cerqueira A, Vainzof M, Passos-Bueno MR. Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families [Internet]. Journal of Medical Genetics. 1997 ; 34( 9): 790-791.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.34.9.790
  • Source: Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      PASSOS-BUENO, Maria Rita et al. Screening of delections in the dystrophin gene with the cdna probes cf23a, cf56a, and cf115. Journal of Medical Genetics, v. 27, n. 3 , p. 145-50, 1990Tradução . . Acesso em: 29 mar. 2024.
    • APA

      Passos-Bueno, M. R., Rapaport, D., Love, D., Flint, T., Bortolini, E. R., Zatz, M., & Davies, K. E. (1990). Screening of delections in the dystrophin gene with the cdna probes cf23a, cf56a, and cf115. Journal of Medical Genetics, 27( 3 ), 145-50.
    • NLM

      Passos-Bueno MR, Rapaport D, Love D, Flint T, Bortolini ER, Zatz M, Davies KE. Screening of delections in the dystrophin gene with the cdna probes cf23a, cf56a, and cf115. Journal of Medical Genetics. 1990 ;27( 3 ): 145-50.[citado 2024 mar. 29 ]
    • Vancouver

      Passos-Bueno MR, Rapaport D, Love D, Flint T, Bortolini ER, Zatz M, Davies KE. Screening of delections in the dystrophin gene with the cdna probes cf23a, cf56a, and cf115. Journal of Medical Genetics. 1990 ;27( 3 ): 145-50.[citado 2024 mar. 29 ]
  • Source: Journal of Medical Genetics. Unidade: IB

    Subjects: GENÉTICA MÉDICA, MALFORMAÇÕES, MUTAÇÃO GENÉTICA

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      SPLENDORE, Alessandra e JABS, E. W. e PASSOS-BUENO, Maria Rita. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. London: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 29 mar. 2024. , 2002
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      Splendore, A., Jabs, E. W., & Passos-Bueno, M. R. (2002). Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. London: Instituto de Biociências, Universidade de São Paulo.
    • NLM

      Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. 2002 ; 39( 7): 493-495.[citado 2024 mar. 29 ]
    • Vancouver

      Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. 2002 ; 39( 7): 493-495.[citado 2024 mar. 29 ]
  • Source: Journal of Medical Genetics. Unidades: IB, FM

    Assunto: GENÉTICA MÉDICA

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      KOIFFMANN, Celia Priszkulnik et al. Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. Journal of Medical Genetics, v. 27, n. 7 , p. 462-4, 1990Tradução . . Disponível em: https://doi.org/10.1136/jmg.27.7.462. Acesso em: 29 mar. 2024.
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      Koiffmann, C. P., Diament, A. J., Souza, D. H., & Wajntal, A. (1990). Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. Journal of Medical Genetics, 27( 7 ), 462-4. doi:10.1136/jmg.27.7.462
    • NLM

      Koiffmann CP, Diament AJ, Souza DH, Wajntal A. Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation [Internet]. Journal of Medical Genetics. 1990 ;27( 7 ): 462-4.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.27.7.462
    • Vancouver

      Koiffmann CP, Diament AJ, Souza DH, Wajntal A. Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation [Internet]. Journal of Medical Genetics. 1990 ;27( 7 ): 462-4.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.27.7.462
  • Source: Journal of Medical Genetics. Unidade: IB

    Assunto: DISTROFIA MUSCULAR

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    • ABNT

      PASSOS-BUENO, Maria Rita e ZATZ, Mayana. Reprodutive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates [Carta ao editor]. Journal of Medical Genetics. London: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 29 mar. 2024. , 1991
    • APA

      Passos-Bueno, M. R., & Zatz, M. (1991). Reprodutive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates [Carta ao editor]. Journal of Medical Genetics. London: Instituto de Biociências, Universidade de São Paulo.
    • NLM

      Passos-Bueno MR, Zatz M. Reprodutive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates [Carta ao editor]. Journal of Medical Genetics. 1991 ; 28( 4): 286-287.[citado 2024 mar. 29 ]
    • Vancouver

      Passos-Bueno MR, Zatz M. Reprodutive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates [Carta ao editor]. Journal of Medical Genetics. 1991 ; 28( 4): 286-287.[citado 2024 mar. 29 ]
  • Source: Journal of Medical Genetics. Unidades: FM, IB

    Subjects: ESTUDOS DE COORTES, ESTATÍSTICA (MÉTODOS), ANORMALIDADES CARDIOVASCULARES, ANORMALIDADES CRANIOFACIAIS

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      YAMAMOTO, Guilherme Lopes et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics, v. 52, n. 6, p. 413-421, 2015Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2015-103018. Acesso em: 29 mar. 2024.
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      Yamamoto, G. L., Aguena, M., Gos, M., Hung, C., Pilch, J., Fahiminiya, S., et al. (2015). Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics, 52( 6), 413-421. doi:10.1136/jmedgenet-2015-103018
    • NLM

      Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky M, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AAL, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome [Internet]. Journal of Medical Genetics. 2015 ; 52( 6): 413-421.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018
    • Vancouver

      Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky M, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AAL, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome [Internet]. Journal of Medical Genetics. 2015 ; 52( 6): 413-421.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018
  • Source: Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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      PASSOS-BUENO, Maria Rita et al. Presence of the apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. Journal of Medical Genetics, v. 35, p. 677-679, 1998Tradução . . Disponível em: https://doi.org/10.1136/jmg.35.8.677. Acesso em: 29 mar. 2024.
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      Passos-Bueno, M. R., Richieri-Costa, A., Sertié, A. L., & Kneppers, A. (1998). Presence of the apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. Journal of Medical Genetics, 35, 677-679. doi:10.1136/jmg.35.8.677
    • NLM

      Passos-Bueno MR, Richieri-Costa A, Sertié AL, Kneppers A. Presence of the apert canonical S252W FGFR2 mutation in a patient without severe syndactyly [Internet]. Journal of Medical Genetics. 1998 ; 35 677-679.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.35.8.677
    • Vancouver

      Passos-Bueno MR, Richieri-Costa A, Sertié AL, Kneppers A. Presence of the apert canonical S252W FGFR2 mutation in a patient without severe syndactyly [Internet]. Journal of Medical Genetics. 1998 ; 35 677-679.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.35.8.677
  • Source: Journal of Medical Genetics. Unidade: FM

    Subjects: FENÓTIPOS, MUTAÇÃO GENÉTICA, NEUROANATOMIA (ANOMALAIS), HOLOPROSENCEFALIA

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      BEAR, Kelly A. et al. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. Journal of Medical Genetics, v. 51, n. 6, p. 413-418, 2014Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2013-102249. Acesso em: 29 mar. 2024.
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      Bear, K. A., Solomon, B. D., Antonini, S., Arnhold, I. J. P., França, M. M., Gerkes, E. H., et al. (2014). Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. Journal of Medical Genetics, 51( 6), 413-418. doi:10.1136/jmedgenet-2013-102249
    • NLM

      Bear KA, Solomon BD, Antonini S, Arnhold IJP, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AAL, Roessler E, Muenke M. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly [Internet]. Journal of Medical Genetics. 2014 ; 51( 6): 413-418.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmedgenet-2013-102249
    • Vancouver

      Bear KA, Solomon BD, Antonini S, Arnhold IJP, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AAL, Roessler E, Muenke M. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly [Internet]. Journal of Medical Genetics. 2014 ; 51( 6): 413-418.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmedgenet-2013-102249
  • Source: Journal of Medical Genetics. Unidade: IB

    Subjects: DOENÇAS GENÉTICAS, RETARDO MENTAL

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      VIANNA-MORGANTE, Angela M et al. Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. Journal of Medical Genetics, v. 13, p. 366-370, 1976Tradução . . Disponível em: https://doi.org/10.1136/jmg.13.5.366. Acesso em: 29 mar. 2024.
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      Vianna-Morgante, A. M., Nozaki, M. J., Ortega, C. C., Coates, V., & Yamamura, Y. (1976). Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. Journal of Medical Genetics, 13, 366-370. doi:10.1136/jmg.13.5.366
    • NLM

      Vianna-Morgante AM, Nozaki MJ, Ortega CC, Coates V, Yamamura Y. Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18 [Internet]. Journal of Medical Genetics. 1976 ; 13 366-370.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.13.5.366
    • Vancouver

      Vianna-Morgante AM, Nozaki MJ, Ortega CC, Coates V, Yamamura Y. Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18 [Internet]. Journal of Medical Genetics. 1976 ; 13 366-370.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.13.5.366
  • Source: Journal of Medical Genetics. Unidades: IB, BIOINFORMÁTICA

    Subjects: GENÉTICA, DOENÇAS GENÉTICAS, FENÓTIPOS, MALFORMAÇÕES, VARIAÇÃO GENÉTICA, ANORMALIDADES CRANIOFACIAIS

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      TAVARES, Vanessa Luiza Romanelli et al. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Journal of Medical Genetics, 2021Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2021-107825. Acesso em: 29 mar. 2024.
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      Tavares, V. L. R., Guimarães-Ramos, S. L., Zhou, Y., Masotti, C., Ezquina, S., Moreira, D. de P., et al. (2021). New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Journal of Medical Genetics. doi:10.1136/jmedgenet-2021-107825
    • NLM

      Tavares VLR, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira D de P, Buermans H, Freitas RS, Dunnen JTD, Twigg SRF, Passos-Bueno MR. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmedgenet-2021-107825
    • Vancouver

      Tavares VLR, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira D de P, Buermans H, Freitas RS, Dunnen JTD, Twigg SRF, Passos-Bueno MR. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmedgenet-2021-107825
  • Source: Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      PASSOS-BUENO, Maria Rita et al. Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families. Journal of Medical Genetics, v. 32, n. ja 1995, p. 14-8, 1995Tradução . . Disponível em: https://doi.org/10.1136/jmg.32.1.14. Acesso em: 29 mar. 2024.
    • APA

      Passos-Bueno, M. R., Cerqueira, A. M. P., Vainzof, M., Marie, S. K. N., & Zatz, M. (1995). Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families. Journal of Medical Genetics, 32( ja 1995), 14-8. doi:10.1136/jmg.32.1.14
    • NLM

      Passos-Bueno MR, Cerqueira AMP, Vainzof M, Marie SKN, Zatz M. Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families [Internet]. Journal of Medical Genetics. 1995 ;32( ja 1995): 14-8.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.32.1.14
    • Vancouver

      Passos-Bueno MR, Cerqueira AMP, Vainzof M, Marie SKN, Zatz M. Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families [Internet]. Journal of Medical Genetics. 1995 ;32( ja 1995): 14-8.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.32.1.14
  • Source: Journal of Medical Genetics. Unidades: IB, FM

    Subjects: DOENÇAS GENÉTICAS, DISTROFIA MUSCULAR

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    • ABNT

      LEVISKY, Ruth Blay et al. Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family. Journal of Medical Genetics, v. 14, p. 51-53, 1977Tradução . . Disponível em: https://doi.org/10.1136/jmg.14.1.51. Acesso em: 29 mar. 2024.
    • APA

      Levisky, R. B., Vianna-Morgante, A. M., Frota-Pessoa, O., Scaff, M., Tsanaclis, A. M. C., & Levy, J. A. (1977). Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family. Journal of Medical Genetics, 14, 51-53. doi:10.1136/jmg.14.1.51
    • NLM

      Levisky RB, Vianna-Morgante AM, Frota-Pessoa O, Scaff M, Tsanaclis AMC, Levy JA. Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family [Internet]. Journal of Medical Genetics. 1977 ; 14 51-53.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.14.1.51
    • Vancouver

      Levisky RB, Vianna-Morgante AM, Frota-Pessoa O, Scaff M, Tsanaclis AMC, Levy JA. Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family [Internet]. Journal of Medical Genetics. 1977 ; 14 51-53.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.14.1.51
  • Source: Journal of Medical Genetics. Unidade: FM

    Assunto: ENDOCRINOLOGIA

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    • ABNT

      ENG, C et al. Mutations in the ret proto-oncogene and the von hippel-lindau disease tumour supressor gene in sporadic and syndromic phaeochromocytomas. Journal of Medical Genetics, v. 32, n. 12, p. 934-7, 1995Tradução . . Disponível em: https://doi.org/10.1136/jmg.32.12.934. Acesso em: 29 mar. 2024.
    • APA

      Eng, C., Crossey, P. A., Mulligan, L. M., Healey, C. S., Houghton, C., Prowse, A., et al. (1995). Mutations in the ret proto-oncogene and the von hippel-lindau disease tumour supressor gene in sporadic and syndromic phaeochromocytomas. Journal of Medical Genetics, 32( 12), 934-7. doi:10.1136/jmg.32.12.934
    • NLM

      Eng C, Crossey PA, Mulligan LM, Healey CS, Houghton C, Prowse A, Chew SL, Dahia PLM, Oriordan JLH, Toledo SPA, Smith DP, Maher ER. Mutations in the ret proto-oncogene and the von hippel-lindau disease tumour supressor gene in sporadic and syndromic phaeochromocytomas [Internet]. Journal of Medical Genetics. 1995 ;32( 12): 934-7.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.32.12.934
    • Vancouver

      Eng C, Crossey PA, Mulligan LM, Healey CS, Houghton C, Prowse A, Chew SL, Dahia PLM, Oriordan JLH, Toledo SPA, Smith DP, Maher ER. Mutations in the ret proto-oncogene and the von hippel-lindau disease tumour supressor gene in sporadic and syndromic phaeochromocytomas [Internet]. Journal of Medical Genetics. 1995 ;32( 12): 934-7.[citado 2024 mar. 29 ] Available from: https://doi.org/10.1136/jmg.32.12.934
  • Source: Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      VAINZOF, Mariz et al. Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers. Journal of Medical Genetics, v. 29, n. 7 , p. 476-9, 1992Tradução . . Acesso em: 29 mar. 2024.
    • APA

      Vainzof, M., Passos-Bueno, M. R., Pavanello, R. C. M., Schreiber, R., & Zatz, M. (1992). Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers. Journal of Medical Genetics, 29( 7 ), 476-9.
    • NLM

      Vainzof M, Passos-Bueno MR, Pavanello RCM, Schreiber R, Zatz M. Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers. Journal of Medical Genetics. 1992 ;29( 7 ): 476-9.[citado 2024 mar. 29 ]
    • Vancouver

      Vainzof M, Passos-Bueno MR, Pavanello RCM, Schreiber R, Zatz M. Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers. Journal of Medical Genetics. 1992 ;29( 7 ): 476-9.[citado 2024 mar. 29 ]

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