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Artigo de periodico
Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features (2015)
Carvalho, Ellaine; Honjo, Rachel; Magalhães, Monize; Yamamoto, Guilherme; Rocha, Katia; Naslavsky, Michel ; Zatz, Mayana ; Passos-Bueno, Maria Rita ; Kim, Chong
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: 18 maio 2024.
APA
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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/ajmg.a.36789
Artigo de periodico
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome (2005)
Jehee, Fernanda Sarquis; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino ; Kok, Fernando; Knijnenburg, Jeroen; Froyen, Guy; Vianna-Morgante, Angela M ; Opitz, John M.; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: CROMOSSOMO X (ANOMALIAS), MALFORMAÇÕES, DOENÇAS GENÉTICAS
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ABNT
JEHEE, Fernanda Sarquis et al. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. American Journal of Medical Genetics, v. 139A, n. 3, p. 221-225, 2005Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30991. Acesso em: 18 maio 2024.
APA
Jehee, F. S., Rosenberg, C., Krepischi, A. C. V., Kok, F., Knijnenburg, J., Froyen, G., et al. (2005). An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. American Journal of Medical Genetics, 139A( 3), 221-225. doi:10.1002/ajmg.a.30991
NLM
Jehee FS, Rosenberg C, Krepischi ACV, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome [Internet]. American Journal of Medical Genetics. 2005 ; 139A( 3): 221-225.[citado 2024 maio 18 ] Available from: https://doi.org/10.1002/ajmg.a.30991
Vancouver
Jehee FS, Rosenberg C, Krepischi ACV, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome [Internet]. American Journal of Medical Genetics. 2005 ; 139A( 3): 221-225.[citado 2024 maio 18 ] Available from: https://doi.org/10.1002/ajmg.a.30991
Artigo de periodico
Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families (2003)
Kliemann, Susana; Waetge, Ricardo T. L.; Suzuki, Oscar T.; Passos-Bueno, Maria Rita ; Rosemberg, Sergio
Source: American Journal of Medical Genetics. Unidades: FM, IB
Subjects: OFTALMOPATIAS (IMUNOLOGIA), OFTALMOPATIAS (GENÉTICA), ANTICORPOS, BIOLOGIA MOLECULAR
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ABNT
KLIEMANN, Susana et al. Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families. American Journal of Medical Genetics, v. 119 A, n. 1, p. 15-19, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.20070. Acesso em: 18 maio 2024.
APA
Kliemann, S., Waetge, R. T. L., Suzuki, O. T., Passos-Bueno, M. R., & Rosemberg, S. (2003). Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families. American Journal of Medical Genetics, 119 A( 1), 15-19. doi:10.1002/ajmg.a.20070
NLM
Kliemann S, Waetge RTL, Suzuki OT, Passos-Bueno MR, Rosemberg S. Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families [Internet]. American Journal of Medical Genetics. 2003 ; 119 A( 1): 15-19.[citado 2024 maio 18 ] Available from: https://doi.org/10.1002/ajmg.a.20070
Vancouver
Kliemann S, Waetge RTL, Suzuki OT, Passos-Bueno MR, Rosemberg S. Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families [Internet]. American Journal of Medical Genetics. 2003 ; 119 A( 1): 15-19.[citado 2024 maio 18 ] Available from: https://doi.org/10.1002/ajmg.a.20070
Artigo de periodico
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2 (2002)
Passos-Bueno, Maria Rita ; Armelin, Lúcia Maria Libório; Alonso, Luís Garcia; Neustein, Isaac; Sertié, Andréa Laurato; Abe, Kikue Terada; Pavanello, Rita de Cássia M.; Elkis, Livia Cunha; Koiffmann, Celia Priszkulnik
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: MUTAÇÃO GENÉTICA, CRANIOSSINOSTOSE
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ABNT
PASSOS-BUENO, Maria Rita et al. Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2. American Journal of Medical Genetics, v. 113, p. 200-206, 2002Tradução . . Disponível em: https://doi.org/10.1002/ajmg.10752. Acesso em: 18 maio 2024.
APA
Passos-Bueno, M. R., Armelin, L. M. L., Alonso, L. G., Neustein, I., Sertié, A. L., Abe, K. T., et al. (2002). Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2. American Journal of Medical Genetics, 113, 200-206. doi:10.1002/ajmg.10752
NLM
Passos-Bueno MR, Armelin LML, Alonso LG, Neustein I, Sertié AL, Abe KT, Pavanello R de CM, Elkis LC, Koiffmann CP. Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2 [Internet]. American Journal of Medical Genetics. 2002 ; 113 200-206.[citado 2024 maio 18 ] Available from: https://doi.org/10.1002/ajmg.10752
Vancouver
Passos-Bueno MR, Armelin LML, Alonso LG, Neustein I, Sertié AL, Abe KT, Pavanello R de CM, Elkis LC, Koiffmann CP. Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2 [Internet]. American Journal of Medical Genetics. 2002 ; 113 200-206.[citado 2024 maio 18 ] Available from: https://doi.org/10.1002/ajmg.10752
Artigo de periodico
Further evidence for a fourth gene causing X-linked pure spastic paraplegia (2002)
Starling, A.; Rocco, P.; Cambi, F.; Hobson, G. M.; Passos-Bueno, Maria Rita ; Zatz, Mayana
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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/ajmg.10551
Artigo de periodico
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin (2000)
Rocco, P.; Vainzof, Mariz ; Froehner, S. C.; Peters, M. F.; Marie, Suely Kazue Nagahashi; Passos-Bueno, Maria Rita ; Zatz, Mayana
Source: American Journal of Medical Genetics. Unidades: FM, IB
Assunto: NEUROLOGIA
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ABNT
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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(20000515)92:2%3C122::aid-ajmg8%3E3.0.co;2-b
Artigo de periodico-carta/editorial
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] (1999)
Gaspar, D A; Pavanello, R.C; Zatz, Mayana ; Passos-Bueno, Maria Rita ; Andre, M; Steman, S; Wyszynski, D. F; Matioli, Sergio Russo
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: GENÉTICA MÉDICA, LÁBIO FISSURADO, MUTAÇÃO GENÉTICA, POLIMORFISMO, MALFORMAÇÕES
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ABNT
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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/(SICI)1096-8628(19991119)87:2%3C197::AID-AJMG15%3E3.0.CO;2-M
Artigo de periodico
Genetic counseling for childless women at risk for Duchenne muscular dystrophy (1999)
Eggers, Sabine; Pavanello, Rita de Cássia M.; Passos-Bueno, Maria Rita ; Zatz, Mayana
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: GENÉTICA MÉDICA, DISTROFIA MUSCULAR
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ABNT
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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19991029)86:5%3C447::aid-ajmg10%3E3.0.co;2-p
Artigo de periodico
Seven autosomal recessive limb-girdle muscular dystrophies in the brazilian population: from LGMD2A to LGMD2G (1999)
Passos-Bueno, Maria Rita ; Vainzof, Mariz ; Moreira, Eloisa S.; Zatz, Mayana
Source: American Journal of Medical Genetics. Unidade: IB
Assunto: GENÉTICA MÉDICA
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ABNT
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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19990219)82:5%3C392::aid-ajmg7%3E3.0.co;2-0
Artigo de periodico
Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses (1998)
Passos-Bueno, Maria Rita ; Sertié, Andréa L; Richieri-Costa, Antonio; Alonso, Luís G; Zatz, Mayana ; Alonso, Nivaldo; Brunoni, Decio; Ribeiro, Sandra F M
Source: American Journal of Medical Genetics. Unidades: IB, HRAC
Assunto: GENÉTICA MÉDICA
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ABNT
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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
Artigo de periodico
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 (1998)
Oliveira, João R. Mendes de; Otto, Paulo A ; Vallada, Homero; Lauriano, Valeria; Elkis, Hélio; Lafer, Beny; Vasquez, Luciana; Gentil, Valentim; Passos-Bueno, Maria Rita ; Zatz, Mayana
Source: American Journal of Medical Genetics. Unidades: IB, FM
Subjects: BIOLOGIA, GENÉTICA MÉDICA
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ABNT
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: 18 maio 2024.
APA
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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980508)81:3%3C225::aid-ajmg4%3E3.0.co;2-v
Artigo de periodico
Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) Families (1998)
Iughetti, Paula; Otto, Paulo A ; Zatz, Mayana ; Passos-Bueno, Maria Rita ; Marie, Suely Kazue Nagahashi
Source: American Journal of Medical Genetics. Unidades: IB, FM
Assunto: DOENÇAS DEGENERATIVAS
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ABNT
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: 18 maio 2024.
APA
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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980518)77:3%3C246::aid-ajmg11%3E3.3.co;2-t
Artigo de periodico
Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases (1998)
Zatz, Mayana ; Sumita, Denilce; Campiotto, Simone; Canovas, Marta; Cerqueira, Antonia; Vainzof, Mariz ; Passos-Bueno, Maria Rita
Source: American 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
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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980724)78:4%3C361::aid-ajmg11%3E3.0.co;2-g
Artigo de periodico
Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers (1998)
Sumita, Denilce Ritsuko; Vainzof, Mariz ; Campiotto, Simone; Cerqueira, Antonia M; Canovas, Marta; Otto, Paulo A ; Passos-Bueno, Maria Rita ; Zatz, Mayana
Source: American 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
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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19981204)80:4%3C356::aid-ajmg10%3E3.3.co;2-f
Artigo de periodico
Sweat electrolyte and cystic fribrosis mutation analysis allows early diagnosis in brazilian children with clinical signs compatible with cystic fibrosis (1998)
Rabbi-Bortolini, Eliete; Bernardino, Andréa L F; Lopes, Adoris L; Ferri, Adriana da Silva; Passos-Bueno, Maria Rita ; Zatz, Mayana
Source: American 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
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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980401)76:4%3C288::aid-ajmg2%3E3.3.co;2-q
Artigo de periodico
Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? (1997)
Passos-Bueno, Maria Rita ; Sertié, Andréa Laurato; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidades: IB, HRAC
Subjects: SÍNDROMES OROFACIODIGITAIS, MUTAÇÃO, POLIMORFISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PASSOS-BUENO, Maria Rita e SERTIÉ, Andréa Laurato e RICHIERI-COSTA, Antonio. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?. American Journal of Medical Genetics, v. 71, n. 2, p. 243-245, 1997Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d. Acesso em: 18 maio 2024.
APA
Passos-Bueno, M. R., Sertié, A. L., & Richieri-Costa, A. (1997). Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? American Journal of Medical Genetics, 71( 2), 243-245. doi:10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
NLM
Passos-Bueno MR, Sertié AL, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 243-245.[citado 2024 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
Vancouver
Passos-Bueno MR, Sertié AL, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 243-245.[citado 2024 maio 18 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
Artigo de periodico
Absence of correlation between utrophin localization and quantity and the clinical severity in duchenne / becker dystrophies (1995)
Vainzof, Mariz ; Passos-Bueno, Maria Rita ; Man, N; Zatz, Mayana
Source: American 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. 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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/ajmg.1320580403
Artigo de periodico
Knobloch syndrome in a large brazilian consanguineous family: confirmation of autosomal recessive inheritance (1994)
Passos-Bueno, Maria Rita ; Marie, Suely Kazue Nagahashi; Monteiro, M; Neustein, I; Whittle, M R; Vainzof, Mariz ; Zatz, Mayana
Source: American 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. 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: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/ajmg.1320520209
Artigo de periodico-carta/editorial
Transposon-like element in the dystrophin gene. [Carta ao editor] (1993)
Zatz, Mayana ; Passos-Bueno, Maria Rita ; Vainzof, Mariz
Source: American 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
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: 18 maio 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 maio 18 ]
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 maio 18 ]
Artigo de periodico
Severe Nonspecific X-Linked Mental Retardation Caused by a-Proximally Xp Located Gene: intragenic Heterogeneity or a New Form of X-Linked Mental Retardation? (1993)
Passos-Bueno, Maria Rita ; Byth, Barbara C; Rosenberg, Sergio; Takata, Reinaldo I; Bakker, Egbert ; Beggs, Alan H ; Pavanello, Rita C; Vainzof, Mariz ; Davies, Kay E; Zatz, Mayana
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: RETARDO MENTAL, HETEROGENEIDADE, CROMOSSOMO X
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PASSOS-BUENO, Maria Rita et al. Severe Nonspecific X-Linked Mental Retardation Caused by a-Proximally Xp Located Gene: intragenic Heterogeneity or a New Form of X-Linked Mental Retardation?. American Journal of Medical Genetics, v. 46, p. 172-175, 1993Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320460214. Acesso em: 18 maio 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 maio 18 ] 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 maio 18 ] Available from: https://doi.org/10.1002/ajmg.1320460214

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