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Artigo de periodico
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly (2018)
Oliveira, Danyllo; Leal, Gabriela Ferraz; Sertié, Andréa L; Caires Jr, Luiz Carlos; Goulart, Ernesto ; Musso, Camila Manso; Oliveira, João Ricardo Mendes de; Krepischi, Ana Cristina Victorino ; Vianna-Morgante, Angela M ; Zatz, Mayana
Source: Journal of Medical Genetics. Unidade: IB
Subjects: MICROCEFALIA, EXPRESSÃO GÊNICA, DOENÇAS GENÉTICAS, CRESCIMENTO E DESENVOLVIMENTO, PESSOAS COM DEFICIÊNCIA INTELECTUAL
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ABNT
OLIVEIRA, Danyllo et al. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. Journal of Medical Genetics, p. 1-5, 2018Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2018-105471. Acesso em: 25 jun. 2024.
APA
Oliveira, D., Leal, G. F., Sertié, A. L., Caires Jr, L. C., Goulart, E., Musso, C. M., et al. (2018). 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. Journal of Medical Genetics, 1-5. doi:10.1136/jmedgenet-2018-105471
NLM
Oliveira D, Leal GF, Sertié AL, Caires Jr LC, Goulart E, Musso CM, Oliveira JRM de, Krepischi ACV, Vianna-Morgante AM, Zatz M. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly [Internet]. Journal of Medical Genetics. 2018 ; 1-5.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmedgenet-2018-105471
Vancouver
Oliveira D, Leal GF, Sertié AL, Caires Jr LC, Goulart E, Musso CM, Oliveira JRM de, Krepischi ACV, Vianna-Morgante AM, Zatz M. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly [Internet]. Journal of Medical Genetics. 2018 ; 1-5.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmedgenet-2018-105471
Artigo de periodico
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family (2015)
Figueiredo, Thalita; Melo, Uirá Souto; Pessoa, André Luiz Santos; Nobrega, Paulo Ribeiro; Kitajima, João Paulo; Correa, Igor; Zatz, Mayana ; Kok, Fernando; Santos, Silvana
Source: Journal of Medical Genetics. Unidades: IB, FM
Subjects: DEFICIÊNCIA MENTAL, GENÉTICA MÉDICA, GENÉTICA MOLECULAR, MUTAÇÃO GENÉTICA
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FIGUEIREDO, Thalita et al. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. Journal of Medical Genetics, v. 52, n. 2, p. 123-127, 2015Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2014-102793. Acesso em: 25 jun. 2024.
APA
Figueiredo, T., Melo, U. S., Pessoa, A. L. S., Nobrega, P. R., Kitajima, J. P., Correa, I., et al. (2015). Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. Journal of Medical Genetics, 52( 2), 123-127. doi:10.1136/jmedgenet-2014-102793
NLM
Figueiredo T, Melo US, Pessoa ALS, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family [Internet]. Journal of Medical Genetics. 2015 ; 52( 2): 123-127.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmedgenet-2014-102793
Vancouver
Figueiredo T, Melo US, Pessoa ALS, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family [Internet]. Journal of Medical Genetics. 2015 ; 52( 2): 123-127.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmedgenet-2014-102793
Artigo de periodico
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome (2015)
Yamamoto, Guilherme Lopes; Aguena, Meire; Gos, Monika; Hung, Christina; Pilch, Jacek; Fahiminiya, Somayyeh; Abramowicz, Anna; Cristian, Ingrid; Buscarilli, Michelle; Naslavsky, Michel ; Malaquias, Alexsandra C.; Zatz, Mayana ; Bodamer, Olaf; Majewski, Jacek; Jorge, Alexander A. L.; Pereira, Alexandre C.; Kim, Chong Ae; Passos-Bueno, Maria Rita ; Bertola, Débora Romeo
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: 25 jun. 2024.
APA
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 jun. 25 ] 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 jun. 25 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018
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, S 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: 25 jun. 2024.
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 2024 jun. 25 ] 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 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmg.2003.010637
Artigo de periodico
A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 (2004)
Takata, R I; Martins, C E Speck; Passosbueno, M R ; Abe, K. T; Nishimura, A L; Silva, M Dorvalina Da; Monteiro Jr., A; Lima, M I; Kok, F ; Zatz, Mayana
Source: Journal of Medical Genetics. Unidades: IB, FM
Subjects: ATROFIA MUSCULAR, DOENÇAS NEUROMUSCULARES, DOENÇAS HEREDITÁRIAS
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ABNT
TAKATA, R I et al. A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21. Journal of Medical Genetics, v. 41, p. 224-229, 2004Tradução . . Disponível em: https://doi.org/10.1136/jmg.2003.013201. Acesso em: 25 jun. 2024.
APA
Takata, R. I., Martins, C. E. S., Passosbueno, M. R., Abe, K. T., Nishimura, A. L., Silva, M. D. D., et al. (2004). A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21. Journal of Medical Genetics, 41, 224-229. doi:10.1136/jmg.2003.013201
NLM
Takata RI, Martins CES, Passosbueno MR, Abe KT, Nishimura AL, Silva MDD, Monteiro Jr. A, Lima MI, Kok F, Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 [Internet]. Journal of Medical Genetics. 2004 ; 41 224-229.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmg.2003.013201
Vancouver
Takata RI, Martins CES, Passosbueno MR, Abe KT, Nishimura AL, Silva MDD, Monteiro Jr. A, Lima MI, Kok F, Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 [Internet]. Journal of Medical Genetics. 2004 ; 41 224-229.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmg.2003.013201
Artigo de periodico
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12] (2003)
Moreira, E. S.; Vainzof, Mariz ; Suzuki, Oscar T.; Pavanello, Rita de Cássia M.; Zatz, Mayana ; Passos-Bueno, Maria Rita
Source: Journal of Medical Genetics. Unidade: IB
Subjects: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA
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ABNT
MOREIRA, E. S. et al. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]. Journal of Medical Genetics, v. 40, p. e12, 2003Tradução . . Acesso em: 25 jun. 2024.
APA
Moreira, E. S., Vainzof, M., Suzuki, O. T., Pavanello, R. de C. M., Zatz, M., & Passos-Bueno, M. R. (2003). Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]. Journal of Medical Genetics, 40, e12.
NLM
Moreira ES, Vainzof M, Suzuki OT, Pavanello R de CM, Zatz M, Passos-Bueno MR. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]. Journal of Medical Genetics. 2003 ; 40 e12.[citado 2024 jun. 25 ]
Vancouver
Moreira ES, Vainzof M, Suzuki OT, Pavanello R de CM, Zatz M, Passos-Bueno MR. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]. Journal of Medical Genetics. 2003 ; 40 e12.[citado 2024 jun. 25 ]
Artigo de periodico
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies (1998)
Moreira, Eloisa S.; Vainzof, Mariz ; Marie, Suely Kazue Nagahashi; Nigro, Vicenzo; Zatz, Mayana ; Passos-Bueno, Maria Rita
Source: Journal of Medical Genetics. Unidades: FM, IB
Assunto: GENÉTICA MÉDICA
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ABNT
MOREIRA, Eloisa S. et al. A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. Journal of Medical Genetics, v. 35, p. 951-953, 1998Tradução . . Disponível em: https://doi.org/10.1136/jmg.35.11.951. Acesso em: 25 jun. 2024.
APA
Moreira, E. S., Vainzof, M., Marie, S. K. N., Nigro, V., Zatz, M., & Passos-Bueno, M. R. (1998). A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. Journal of Medical Genetics, 35, 951-953. doi:10.1136/jmg.35.11.951
NLM
Moreira ES, Vainzof M, Marie SKN, Nigro V, Zatz M, Passos-Bueno MR. A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies [Internet]. Journal of Medical Genetics. 1998 ; 35 951-953.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmg.35.11.951
Vancouver
Moreira ES, Vainzof M, Marie SKN, Nigro V, Zatz M, Passos-Bueno MR. A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies [Internet]. Journal of Medical Genetics. 1998 ; 35 951-953.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmg.35.11.951
Artigo de periodico
Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families (1997)
Zatz, Mayana ; Cerqueira, Antonia; Vainzof, Mariz ; Passos-Bueno, Maria Rita
Source: Journal of Medical Genetics. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, GENÉTICA DE POPULAÇÕES, DISTROFIA MUSCULAR, GENÉTICA MOLECULAR
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ABNT
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: 25 jun. 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 jun. 25 ] 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 jun. 25 ] Available from: https://doi.org/10.1136/jmg.34.9.790
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: 25 jun. 2024.
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 2024 jun. 25 ] 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 2024 jun. 25 ] 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: 25 jun. 2024.
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 2024 jun. 25 ] 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 2024 jun. 25 ] 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: 25 jun. 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 jun. 25 ] 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 jun. 25 ] 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: 25 jun. 2024.
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 2024 jun. 25 ] 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 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmg.30.7.589
Artigo de periodico
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families (1993)
Passos-Bueno, Maria Rita ; Richard, I; Vainzof, Mariz ; Fougerousse, F; Weissenbach, J; Broux, O; Cohen, D; Akiyama, J; Marie, Suely Kazue Nagahashi; Carvalho, A. A.; Guilherme, L
Source: Journal of Medical Genetics. Unidades: IB, FM
Assunto: GENÉTICA MÉDICA
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ABNT
PASSOS-BUENO, Maria Rita et al. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families. Journal of Medical Genetics, v. 30, n. 5 , p. 385-7, 1993Tradução . . Disponível em: https://doi.org/10.1136/jmg.30.5.385. Acesso em: 25 jun. 2024.
APA
Passos-Bueno, M. R., Richard, I., Vainzof, M., Fougerousse, F., Weissenbach, J., Broux, O., et al. (1993). Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families. Journal of Medical Genetics, 30( 5 ), 385-7. doi:10.1136/jmg.30.5.385
NLM
Passos-Bueno MR, Richard I, Vainzof M, Fougerousse F, Weissenbach J, Broux O, Cohen D, Akiyama J, Marie SKN, Carvalho AA, Guilherme L. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families [Internet]. Journal of Medical Genetics. 1993 ;30( 5 ): 385-7.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmg.30.5.385
Vancouver
Passos-Bueno MR, Richard I, Vainzof M, Fougerousse F, Weissenbach J, Broux O, Cohen D, Akiyama J, Marie SKN, Carvalho AA, Guilherme L. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families [Internet]. Journal of Medical Genetics. 1993 ;30( 5 ): 385-7.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmg.30.5.385
Artigo de periodico
Cosegregation of schizophrenia with becker muscular dystrophy: susceptibility locus for schizophrenia at xp21 or an effect of the dystrophin gene in the brain? (1993)
Zatz, Mayana ; Vallada, H; Melo, M S; Passos-Bueno, Maria Rita ; Vieira Filho, A. H. G.; Vainzof, Mariz ; Gill, M; Gentil, V
Source: Journal of Medical Genetics. Unidades: FM, IB
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZATZ, Mayana et al. Cosegregation of schizophrenia with becker muscular dystrophy: susceptibility locus for schizophrenia at xp21 or an effect of the dystrophin gene in the brain?. Journal of Medical Genetics, v. 30, n. 2 , p. 131-4, 1993Tradução . . Disponível em: https://doi.org/10.1136/jmg.30.2.131. Acesso em: 25 jun. 2024.
APA
Zatz, M., Vallada, H., Melo, M. S., Passos-Bueno, M. R., Vieira Filho, A. H. G., Vainzof, M., et al. (1993). Cosegregation of schizophrenia with becker muscular dystrophy: susceptibility locus for schizophrenia at xp21 or an effect of the dystrophin gene in the brain? Journal of Medical Genetics, 30( 2 ), 131-4. doi:10.1136/jmg.30.2.131
NLM
Zatz M, Vallada H, Melo MS, Passos-Bueno MR, Vieira Filho AHG, Vainzof M, Gill M, Gentil V. Cosegregation of schizophrenia with becker muscular dystrophy: susceptibility locus for schizophrenia at xp21 or an effect of the dystrophin gene in the brain? [Internet]. Journal of Medical Genetics. 1993 ;30( 2 ): 131-4.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmg.30.2.131
Vancouver
Zatz M, Vallada H, Melo MS, Passos-Bueno MR, Vieira Filho AHG, Vainzof M, Gill M, Gentil V. Cosegregation of schizophrenia with becker muscular dystrophy: susceptibility locus for schizophrenia at xp21 or an effect of the dystrophin gene in the brain? [Internet]. Journal of Medical Genetics. 1993 ;30( 2 ): 131-4.[citado 2024 jun. 25 ] Available from: https://doi.org/10.1136/jmg.30.2.131
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 25 jun. 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 jun. 25 ]
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 jun. 25 ]
Artigo de periodico-carta/editorial
Reprodutive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates [Carta ao editor] (1991)
Passos-Bueno, Maria Rita ; Zatz, Mayana
Source: Journal of Medical Genetics. Unidade: IB
Assunto: DISTROFIA MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 25 jun. 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 jun. 25 ]
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 jun. 25 ]
Artigo de periodico-carta/editorial
Estimae of germinal mosaicism in Duchenne muscular Dystrophy. [Carta ao editor] (1990)
Passos-Bueno, Maria Rita ; Lima, Martha Alessandra Beltrame de Oliveira; Zatz, Mayana
Source: Journal of Medical Genetics. Unidade: IB
Assunto: DISTROFIA MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PASSOS-BUENO, Maria Rita e LIMA, Martha Alessandra Beltrame de Oliveira e ZATZ, Mayana. Estimae of germinal mosaicism in Duchenne muscular Dystrophy. [Carta ao editor]. Journal of Medical Genetics. London: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 25 jun. 2024. , 1990
APA
Passos-Bueno, M. R., Lima, M. A. B. de O., & Zatz, M. (1990). Estimae of germinal mosaicism in Duchenne muscular Dystrophy. [Carta ao editor]. Journal of Medical Genetics. London: Instituto de Biociências, Universidade de São Paulo.
NLM
Passos-Bueno MR, Lima MAB de O, Zatz M. Estimae of germinal mosaicism in Duchenne muscular Dystrophy. [Carta ao editor]. Journal of Medical Genetics. 1990 ; 27( 11): 727-728.[citado 2024 jun. 25 ]
Vancouver
Passos-Bueno MR, Lima MAB de O, Zatz M. Estimae of germinal mosaicism in Duchenne muscular Dystrophy. [Carta ao editor]. Journal of Medical Genetics. 1990 ; 27( 11): 727-728.[citado 2024 jun. 25 ]
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 25 jun. 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 jun. 25 ]
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 jun. 25 ]

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