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Filtros : "GENÉTICA MÉDICA" "Journal of Medical Genetics" Removido: "FM" Limpar

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1 - 14 (14 records)

  • Artigo de periodico

    A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features (2012)

    Molin, A. M; Andrieux, J; Koolen, D. A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; Leeuw, N de; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, Fernando; Krepischi, Ana Cristina Victorino ; Le Caignec, C; Mackie Ogilvie, C; Maia, S; Mathieu-Dramard, M; Minnich, A; Palumbo, O; Papadia, F; Pfundt, R; Reardon, W; Receveur, A; Rio, M; Ronsbro Darling,L; Rosenberg, Carla ; Sá, J; Vallee, L; Vincent-Delorme, C; Zelante, L; Bondeson, M-L; Annerén, G

    Source: Journal of Medical Genetics. Unidade: IB

    Subjects: RETARDO MENTAL, GENÓTIPOS, FENÓTIPOS, ANOMALIA FACIAL, GENÉTICA MÉDICA

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    • ABNT

      MOLIN, A. M et al. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, v. 49, n. 2, p. 104-109, 2012Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2011-100534. Acesso em: 28 nov. 2025.

    • APA

      Molin, A. M., Andrieux, J., Koolen, D. A., Malan, V., Carella, M., Colleaux, L., et al. (2012). A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, 49( 2), 104-109. doi:10.1136/jmedgenet-2011-100534

    • NLM

      Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534

    • Vancouver

      Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534

  • Artigo de periodico

    Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion (2012)

    Klopocki, Eva; Lohan, Silke; Doelken Sandra C; Stricker, Sigmar; Ockeloen, Charlotte W; Aguiar, Renata Soares Thiele de; Lezirovitz, Karina; Mingroni Netto, Regina Celia ; Jamsheer, Aleksander; Shah, Hitesh; Kurth, Ingo; Habenicht, Rolf; Warman, Matthew; Devriendt, Koenraad; Kordaß, Ulrike; Hempel, Maja; Rajab, Anna; Mäkitie, Outi; Naveed, Mohammed; Radhakrishna, Uppala; Antonarakis, Stylianos E

    Source: Journal of Medical Genetics. Unidade: IB

    Subjects: MALFORMAÇÕES, DOENÇAS GENÉTICAS, GENÉTICA MÉDICA

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    • ABNT

      KLOPOCKI, Eva et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics, v. 49, n. 2, p. 119-125, 2012Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2011-100409. Acesso em: 28 nov. 2025.

    • APA

      Klopocki, E., Lohan, S., Doelken Sandra C,, Stricker, S., Ockeloen, C. W., Aguiar, R. S. T. de, et al. (2012). Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics, 49( 2), 119-125. doi:10.1136/jmedgenet-2011-100409

    • NLM

      Klopocki E, Lohan S, Doelken Sandra C, Stricker S, Ockeloen CW, Aguiar RST de, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordaß U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 119-125.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100409

    • Vancouver

      Klopocki E, Lohan S, Doelken Sandra C, Stricker S, Ockeloen CW, Aguiar RST de, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordaß U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 119-125.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100409

  • Artigo de periodico

    Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype (2004)

    Tonini, M. M. O; Pavanello, R C M; Gurgel-Giannetti, J; Lemmers, R J; Maarel, Silvere M. van der ; Frants, R R; Zatz, Mayana

    Source: Journal of Medical Genetics. Unidade: IB

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

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    • ABNT

      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: 28 nov. 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 nov. 28 ] 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 nov. 28 ] Available from: https://doi.org/10.1136/jmg.2003.010637

  • Artigo de periodico-carta/editorial

    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] (2002)

    Splendore, Alessandra; Jabs, E. W.; Passos-Bueno, Maria Rita

    Source: Journal of Medical Genetics. Unidade: IB

    Subjects: GENÉTICA MÉDICA, MALFORMAÇÕES, MUTAÇÃO GENÉTICA

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    • ABNT

      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: 28 nov. 2025. , 2002

    • APA

      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 2025 nov. 28 ]

    • 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 2025 nov. 28 ]

  • Artigo de periodico

    Presence of the apert canonical S252W FGFR2 mutation in a patient without severe syndactyly (1998)

    Passos-Bueno, Maria Rita ; Richieri-Costa, Antonio; Sertié, Andréa L; Kneppers, Alexander

    Source: Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      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: 28 nov. 2025.

    • APA

      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 2025 nov. 28 ] 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 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmg.35.8.677

  • Trabalho de evento-resumo periodico

    Clinical variability of the 17 p 112 duplication in cmt 1a (1996)

    Marques Júnior, Wilson; Davis, M B; Sweeney, M G; Wood, N M; Thomas, P K

    Source: Journal of Medical Genetics. Conference titles: British Human Genetics Conference. Unidade: FMRP

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      MARQUES JÚNIOR, Wilson et al. Clinical variability of the 17 p 112 duplication in cmt 1a. Journal of Medical Genetics. Londres: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. . Acesso em: 28 nov. 2025. , 1996

    • APA

      Marques Júnior, W., Davis, M. B., Sweeney, M. G., Wood, N. M., & Thomas, P. K. (1996). Clinical variability of the 17 p 112 duplication in cmt 1a. Journal of Medical Genetics. Londres: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo.

    • NLM

      Marques Júnior W, Davis MB, Sweeney MG, Wood NM, Thomas PK. Clinical variability of the 17 p 112 duplication in cmt 1a. Journal of Medical Genetics. 1996 ;33 5 .[citado 2025 nov. 28 ]

    • Vancouver

      Marques Júnior W, Davis MB, Sweeney MG, Wood NM, Thomas PK. Clinical variability of the 17 p 112 duplication in cmt 1a. Journal of Medical Genetics. 1996 ;33 5 .[citado 2025 nov. 28 ]

  • Artigo de periodico

    Fraxf in a patient with chromosome 8 duplication (1996)

    Vianna-Morgante, Angela M ; Mingroni Netto, Regina Celia ; Barbosa, A C C; Otto, Paulo A ; Rosenberg, Carla

    Source: Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      VIANNA-MORGANTE, Angela M et al. Fraxf in a patient with chromosome 8 duplication. Journal of Medical Genetics, v. 33, n. 7 , p. 611-4, 1996Tradução . . Acesso em: 28 nov. 2025.

    • APA

      Vianna-Morgante, A. M., Mingroni Netto, R. C., Barbosa, A. C. C., Otto, P. A., & Rosenberg, C. (1996). Fraxf in a patient with chromosome 8 duplication. Journal of Medical Genetics, 33( 7 ), 611-4.

    • NLM

      Vianna-Morgante AM, Mingroni Netto RC, Barbosa ACC, Otto PA, Rosenberg C. Fraxf in a patient with chromosome 8 duplication. Journal of Medical Genetics. 1996 ;33( 7 ): 611-4.[citado 2025 nov. 28 ]

    • Vancouver

      Vianna-Morgante AM, Mingroni Netto RC, Barbosa ACC, Otto PA, Rosenberg C. Fraxf in a patient with chromosome 8 duplication. Journal of Medical Genetics. 1996 ;33( 7 ): 611-4.[citado 2025 nov. 28 ]

  • Artigo de periodico

    CTG repeat length in muscle from patiens affected whith myotonic dystrophy (DM) (1996)

    Zatz, Mayana ; Passos-Bueno, Maria Rita ; Cerqueira, Antonia Maria Pereira; Vainzof, Mariz

    Source: Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      ZATZ, Mayana et al. CTG repeat length in muscle from patiens affected whith myotonic dystrophy (DM). Journal of Medical Genetics, v. 33, n. 2, p. 173, 1996Tradução . . Disponível em: https://doi.org/10.1136/jmg.33.2.173-a. Acesso em: 28 nov. 2025.

    • APA

      Zatz, M., Passos-Bueno, M. R., Cerqueira, A. M. P., & Vainzof, M. (1996). CTG repeat length in muscle from patiens affected whith myotonic dystrophy (DM). Journal of Medical Genetics, 33( 2), 173. doi:10.1136/jmg.33.2.173-a

    • NLM

      Zatz M, Passos-Bueno MR, Cerqueira AMP, Vainzof M. CTG repeat length in muscle from patiens affected whith myotonic dystrophy (DM) [Internet]. Journal of Medical Genetics. 1996 ; 33( 2): 173.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmg.33.2.173-a

    • Vancouver

      Zatz M, Passos-Bueno MR, Cerqueira AMP, Vainzof M. CTG repeat length in muscle from patiens affected whith myotonic dystrophy (DM) [Internet]. Journal of Medical Genetics. 1996 ; 33( 2): 173.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmg.33.2.173-a

  • Artigo de periodico

    Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 brazilian families (1996)

    Passos-Bueno, Maria Rita ; Moreira, E S; Marie, Suely Kazue Nagahashi; Bashir, R; Vasquez, L; Love, D R; Vainzof, Mariz ; Iughetti, P; Oliveira, J. R.; Bakker, E; Strachan, T

    Source: Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      PASSOS-BUENO, Maria Rita et al. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 brazilian families. Journal of Medical Genetics, v. 33, p. 97-102, 1996Tradução . . Disponível em: https://doi.org/10.1136/jmg.33.2.97. Acesso em: 28 nov. 2025.

    • APA

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

    • NLM

      Passos-Bueno MR, Moreira ES, Marie SKN, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 brazilian families [Internet]. Journal of Medical Genetics. 1996 ;33 97-102.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmg.33.2.97

    • Vancouver

      Passos-Bueno MR, Moreira ES, Marie SKN, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 brazilian families [Internet]. Journal of Medical Genetics. 1996 ;33 97-102.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmg.33.2.97

  • Artigo de periodico

    Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families (1995)

    Passos-Bueno, Maria Rita ; Cerqueira, A M P; Vainzof, Mariz ; Marie, Suely Kazue Nagahashi; Zatz, Mayana

    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: 28 nov. 2025.

    • 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 2025 nov. 28 ] 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 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmg.32.1.14

  • Artigo de periodico

    Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness (1993)

    Eggers, S.; Passos-Bueno, Maria Rita ; Zatz, Mayana

    Source: Journal of Medical Genetics. Unidade: IB

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      EGGERS, S. e PASSOS-BUENO, Maria Rita e ZATZ, Mayana. Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness. Journal of Medical Genetics, v. 30, n. 7 , p. 589-92, 1993Tradução . . Disponível em: https://doi.org/10.1136/jmg.30.7.589. Acesso em: 28 nov. 2025.

    • APA

      Eggers, S., Passos-Bueno, M. R., & Zatz, M. (1993). Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness. Journal of Medical Genetics, 30( 7 ), 589-92. doi:10.1136/jmg.30.7.589

    • NLM

      Eggers S, Passos-Bueno MR, Zatz M. Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness [Internet]. Journal of Medical Genetics. 1993 ;30( 7 ): 589-92.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmg.30.7.589

    • Vancouver

      Eggers S, Passos-Bueno MR, Zatz M. Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness [Internet]. Journal of Medical Genetics. 1993 ;30( 7 ): 589-92.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmg.30.7.589

  • Artigo de periodico

    Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers (1992)

    Vainzof, Mariz ; Passos-Bueno, Maria Rita ; Pavanello, R C M; Schreiber, R; Zatz, Mayana

    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: 28 nov. 2025.

    • 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 2025 nov. 28 ]

    • 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 2025 nov. 28 ]

  • Artigo de periodico

    Screening of delections in the dystrophin gene with the cdna probes cf23a, cf56a, and cf115 (1990)

    Passos-Bueno, Maria Rita ; Rapaport, D; Love, D; Flint, T; Bortolini, E R; Zatz, Mayana ; Davies, K E

    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: 28 nov. 2025.

    • 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 2025 nov. 28 ]

    • 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 2025 nov. 28 ]

  • Artigo de periodico

    Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia (1986)

    Costa, F F; Zago, M A

    Source: Journal of Medical Genetics. Unidade: FMRP

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      COSTA, F F e ZAGO, M A. Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia. Journal of Medical Genetics, v. 23, p. 25-55, 1986Tradução . . Disponível em: https://doi.org/10.1136/jmg.23.3.252. Acesso em: 28 nov. 2025.

    • APA

      Costa, F. F., & Zago, M. A. (1986). Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia. Journal of Medical Genetics, 23, 25-55. doi:10.1136/jmg.23.3.252

    • NLM

      Costa FF, Zago MA. Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia [Internet]. Journal of Medical Genetics. 1986 ;23 25-55.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmg.23.3.252

    • Vancouver

      Costa FF, Zago MA. Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia [Internet]. Journal of Medical Genetics. 1986 ;23 25-55.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1136/jmg.23.3.252
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