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Artigo de periodico
Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders (2024)
Tolezano, Giovanna Cantini; Bastos, Giovanna Civitate; Costa, Silvia Souza da; Scliar, Marília de Oliveira; Souza, Carolina Fischinger Moura de; Linden Jr, Hélio Van Der; Fernandes, Walter Luiz Magalhães; Otto, Paulo A ; Vianna-Morgante, Angela M ; Haddad, Luciana Amaral ; Honjo, Rachel Sayuri; Yamamoto, Guilherme Lopes; Kim, Chong Ae; Rosenberg, Carla ; Jorge, Alexander Augusto de Lima ; Bertola, Débora Romeo ; Krepischi, Ana Cristina Victorino
Source: Molecular Neurobiology. Unidades: IB, BIOINFORMÁTICA, FM
Subjects: MICROCEFALIA, NEUROLOGIA, GENÉTICA
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ABNT
TOLEZANO, Giovanna Cantini et al. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders. Molecular Neurobiology, 2024Tradução . . Disponível em: https://doi.org/10.1007/s12035-023-03894-8. Acesso em: 26 set. 2024.
APA
Tolezano, G. C., Bastos, G. C., Costa, S. S. da, Scliar, M. de O., Souza, C. F. M. de, Linden Jr, H. V. D., et al. (2024). Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders. Molecular Neurobiology. doi:10.1007/s12035-023-03894-8
NLM
Tolezano GC, Bastos GC, Costa SS da, Scliar M de O, Souza CFM de, Linden Jr HVD, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AA de L, Bertola DR, Krepischi ACV. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders [Internet]. Molecular Neurobiology. 2024 ;[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
Vancouver
Tolezano GC, Bastos GC, Costa SS da, Scliar M de O, Souza CFM de, Linden Jr HVD, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AA de L, Bertola DR, Krepischi ACV. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders [Internet]. Molecular Neurobiology. 2024 ;[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
Artigo de periodico
Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants (2023)
Chaves, Luiza D; Carvalho, Laura M. L; Tolezano, Giovanna C; Pires, Sara F; Costa, Silvia S; Scliar, Marília O. de; Giuliani, Liane de R; Bertola, Débora Romeo ; Santos-Rebouças, Cíntia B; Seo, Go Hun; Otto, Paulo A ; Rosenberg, Carla ; Vianna-Morgante, Angela M ; Krepischi, Ana Cristina Victorino
Source: Molecular Neurobiology. Unidade: IB
Subjects: MULHERES, CROMOSSOMO X, RETARDO MENTAL, GENÉTICA MÉDICA
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ABNT
CHAVES, Luiza D et al. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants. Molecular Neurobiology, v. 60, p. 3758–3769, 2023Tradução . . Disponível em: https://doi.org/10.1007/s12035-023-03311-0. Acesso em: 26 set. 2024.
APA
Chaves, L. D., Carvalho, L. M. L., Tolezano, G. C., Pires, S. F., Costa, S. S., Scliar, M. O. de, et al. (2023). Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants. Molecular Neurobiology, 60, 3758–3769. doi:10.1007/s12035-023-03311-0
NLM
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO de, Giuliani L de R, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants [Internet]. Molecular Neurobiology. 2023 ; 60 3758–3769.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
Vancouver
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO de, Giuliani L de R, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants [Internet]. Molecular Neurobiology. 2023 ; 60 3758–3769.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
Artigo de periodico
A novel association of a polymorphism in the first intron of adiponectin gene with type 2 diabetes, obesity and hypoadiponectinemia in Asian Indians (2008)
Lezirovitz, Karina; Maestrelli, Sylvia Regina Pedrosa; Cotrim, Nelson Henderson; Otto, Paulo A ; Pearson, Peter Lees; Mingroni Netto, Regina Celia
Source: Human Genetics. Unidade: IB
Subjects: DOENÇAS HEREDITÁRIAS, MUTAÇÃO GENÉTICA
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ABNT
LEZIROVITZ, Karina et al. A novel association of a polymorphism in the first intron of adiponectin gene with type 2 diabetes, obesity and hypoadiponectinemia in Asian Indians. Human Genetics, v. 123, n. 6, p. 625-631, 2008Tradução . . Acesso em: 26 set. 2024.
APA
Lezirovitz, K., Maestrelli, S. R. P., Cotrim, N. H., Otto, P. A., Pearson, P. L., & Mingroni Netto, R. C. (2008). A novel association of a polymorphism in the first intron of adiponectin gene with type 2 diabetes, obesity and hypoadiponectinemia in Asian Indians. Human Genetics, 123( 6), 625-631.
NLM
Lezirovitz K, Maestrelli SRP, Cotrim NH, Otto PA, Pearson PL, Mingroni Netto RC. A novel association of a polymorphism in the first intron of adiponectin gene with type 2 diabetes, obesity and hypoadiponectinemia in Asian Indians. Human Genetics. 2008 ; 123( 6): 625-631.[citado 2024 set. 26 ]
Vancouver
Lezirovitz K, Maestrelli SRP, Cotrim NH, Otto PA, Pearson PL, Mingroni Netto RC. A novel association of a polymorphism in the first intron of adiponectin gene with type 2 diabetes, obesity and hypoadiponectinemia in Asian Indians. Human Genetics. 2008 ; 123( 6): 625-631.[citado 2024 set. 26 ]
Artigo de periodico
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3 (2008)
Lezirovitz, Karina; Maestrelli, Sylvia Regina Pedrosa; Cotrim, Nelson Henderson; Otto, Paulo A ; Pearson, Peter Lees; Mingroni Netto, Regina Celia
Source: Human Genetics. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, MALFORMAÇÕES
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ABNT
LEZIROVITZ, Karina et al. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. Human Genetics, v. 123, n. 6, p. 625-631, 2008Tradução . . Disponível em: https://doi.org/10.1007/s00439-008-0515-7. Acesso em: 26 set. 2024.
APA
Lezirovitz, K., Maestrelli, S. R. P., Cotrim, N. H., Otto, P. A., Pearson, P. L., & Mingroni Netto, R. C. (2008). A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. Human Genetics, 123( 6), 625-631. doi:10.1007/s00439-008-0515-7
NLM
Lezirovitz K, Maestrelli SRP, Cotrim NH, Otto PA, Pearson PL, Mingroni Netto RC. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3 [Internet]. Human Genetics. 2008 ; 123( 6): 625-631.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/s00439-008-0515-7
Vancouver
Lezirovitz K, Maestrelli SRP, Cotrim NH, Otto PA, Pearson PL, Mingroni Netto RC. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3 [Internet]. Human Genetics. 2008 ; 123( 6): 625-631.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/s00439-008-0515-7
Artigo de periodico
H-Y antigen expression in a case of mixed gonadal dysgenesis (1981)
Moreira Filho, C. A.; Amaral, Antonia Tavares do ; Otto, Paulo A ; Vianna-Morgante, Angela M ; Otto, Priscila Guimarães; Elejalde, B. R.
Source: Human Genetics. Unidade: IB
Assunto: GONADOTROFINAS
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ABNT
MOREIRA FILHO, C. A. et al. H-Y antigen expression in a case of mixed gonadal dysgenesis. Human Genetics, v. 57, p. 366-370, 1981Tradução . . Disponível em: https://doi.org/10.1007/bf00281686. Acesso em: 26 set. 2024.
APA
Moreira Filho, C. A., Amaral, A. T. do, Otto, P. A., Vianna-Morgante, A. M., Otto, P. G., & Elejalde, B. R. (1981). H-Y antigen expression in a case of mixed gonadal dysgenesis. Human Genetics, 57, 366-370. doi:10.1007/bf00281686
NLM
Moreira Filho CA, Amaral AT do, Otto PA, Vianna-Morgante AM, Otto PG, Elejalde BR. H-Y antigen expression in a case of mixed gonadal dysgenesis [Internet]. Human Genetics. 1981 ; 57 366-370.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00281686
Vancouver
Moreira Filho CA, Amaral AT do, Otto PA, Vianna-Morgante AM, Otto PG, Elejalde BR. H-Y antigen expression in a case of mixed gonadal dysgenesis [Internet]. Human Genetics. 1981 ; 57 366-370.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00281686
Artigo de periodico
The turner phenotype and the different types of human X isochromosome (1981)
Otto, Priscila Guimarães; Vianna-Morgante, Angela M ; Otto, Paulo A ; Wajntal, Anita
Source: Human Genetics. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, CARIOTIPAGEM
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ABNT
OTTO, Priscila Guimarães et al. The turner phenotype and the different types of human X isochromosome. Human Genetics, v. 57, p. 159-164, 1981Tradução . . Disponível em: https://doi.org/10.1007/bf00282013. Acesso em: 26 set. 2024.
APA
Otto, P. G., Vianna-Morgante, A. M., Otto, P. A., & Wajntal, A. (1981). The turner phenotype and the different types of human X isochromosome. Human Genetics, 57, 159-164. doi:10.1007/bf00282013
NLM
Otto PG, Vianna-Morgante AM, Otto PA, Wajntal A. The turner phenotype and the different types of human X isochromosome [Internet]. Human Genetics. 1981 ; 57 159-164.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00282013
Vancouver
Otto PG, Vianna-Morgante AM, Otto PA, Wajntal A. The turner phenotype and the different types of human X isochromosome [Internet]. Human Genetics. 1981 ; 57 159-164.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00282013
Artigo de periodico
Paternal or maternal origin of human i(Xq) isochromosomes (1981)
Otto, Paulo A ; Otto, Priscila Guimarães
Source: Human Genetics. Unidade: IB
Assunto: PATERNIDADE (TESTES)
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ABNT
OTTO, Paulo A e OTTO, Priscila Guimarães. Paternal or maternal origin of human i(Xq) isochromosomes. Human Genetics, v. 59, p. 308-309, 1981Tradução . . Disponível em: https://doi.org/10.1007/bf00295462. Acesso em: 26 set. 2024.
APA
Otto, P. A., & Otto, P. G. (1981). Paternal or maternal origin of human i(Xq) isochromosomes. Human Genetics, 59, 308-309. doi:10.1007/bf00295462
NLM
Otto PA, Otto PG. Paternal or maternal origin of human i(Xq) isochromosomes [Internet]. Human Genetics. 1981 ; 59 308-309.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00295462
Vancouver
Otto PA, Otto PG. Paternal or maternal origin of human i(Xq) isochromosomes [Internet]. Human Genetics. 1981 ; 59 308-309.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00295462
Artigo de periodico
The behavior of allocyclic chromosomes in bloom's syndrome (1981)
Otto, Priscila Guimarães; Otto, Paulo A ; Therman, Eeva
Source: Chromosoma. Unidade: IB
Assunto: ANORMALIDADES CROMOSSÔMICAS
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ABNT
OTTO, Priscila Guimarães e OTTO, Paulo A e THERMAN, Eeva. The behavior of allocyclic chromosomes in bloom's syndrome. Chromosoma, v. 84, p. 337-344, 1981Tradução . . Disponível em: https://doi.org/10.1007/bf00286023. Acesso em: 26 set. 2024.
APA
Otto, P. G., Otto, P. A., & Therman, E. (1981). The behavior of allocyclic chromosomes in bloom's syndrome. Chromosoma, 84, 337-344. doi:10.1007/bf00286023
NLM
Otto PG, Otto PA, Therman E. The behavior of allocyclic chromosomes in bloom's syndrome [Internet]. Chromosoma. 1981 ; 84 337-344.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00286023
Vancouver
Otto PG, Otto PA, Therman E. The behavior of allocyclic chromosomes in bloom's syndrome [Internet]. Chromosoma. 1981 ; 84 337-344.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00286023
Artigo de periodico
H-Y antigen expression in a case of XX true hermaphroditism (1980)
Moreira Filho, C. A.; Otto, Priscila Guimarães; Mustacchi, Zan; Frota-Pessoa, Oswaldo; Otto, Paulo A
Source: Human Genetics. Unidade: IB
Assunto: HERMAFRODITISMO
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ABNT
MOREIRA FILHO, C. A. et al. H-Y antigen expression in a case of XX true hermaphroditism. Human Genetics, v. 55, p. 309-314, 1980Tradução . . Disponível em: https://doi.org/10.1007/bf00290209. Acesso em: 26 set. 2024.
APA
Moreira Filho, C. A., Otto, P. G., Mustacchi, Z., Frota-Pessoa, O., & Otto, P. A. (1980). H-Y antigen expression in a case of XX true hermaphroditism. Human Genetics, 55, 309-314. doi:10.1007/bf00290209
NLM
Moreira Filho CA, Otto PG, Mustacchi Z, Frota-Pessoa O, Otto PA. H-Y antigen expression in a case of XX true hermaphroditism [Internet]. Human Genetics. 1980 ; 55 309-314.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00290209
Vancouver
Moreira Filho CA, Otto PG, Mustacchi Z, Frota-Pessoa O, Otto PA. H-Y antigen expression in a case of XX true hermaphroditism [Internet]. Human Genetics. 1980 ; 55 309-314.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00290209
Artigo de periodico
Partial monosomy 13 and 21 due to a familial 13/21 translocation (1978)
Otto, Priscila Guimarães; Toledo, Sérgio; Richieri-Costa, Antonio; Otto, Paulo A ; Vianna-Morgante, Angela M ; Kasahara, Sanae
Source: Human Genetics. Unidade: IB
Assunto: ANORMALIDADES CROMOSSÔMICAS
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ABNT
OTTO, Priscila Guimarães et al. Partial monosomy 13 and 21 due to a familial 13/21 translocation. Human Genetics, v. 41, p. 243-250, 1978Tradução . . Disponível em: https://doi.org/10.1007/bf00284757. Acesso em: 26 set. 2024.
APA
Otto, P. G., Toledo, S., Richieri-Costa, A., Otto, P. A., Vianna-Morgante, A. M., & Kasahara, S. (1978). Partial monosomy 13 and 21 due to a familial 13/21 translocation. Human Genetics, 41, 243-250. doi:10.1007/bf00284757
NLM
Otto PG, Toledo S, Richieri-Costa A, Otto PA, Vianna-Morgante AM, Kasahara S. Partial monosomy 13 and 21 due to a familial 13/21 translocation [Internet]. Human Genetics. 1978 ; 41 243-250.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00284757
Vancouver
Otto PG, Toledo S, Richieri-Costa A, Otto PA, Vianna-Morgante AM, Kasahara S. Partial monosomy 13 and 21 due to a familial 13/21 translocation [Internet]. Human Genetics. 1978 ; 41 243-250.[citado 2024 set. 26 ] Available from: https://doi.org/10.1007/bf00284757

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