ReP USP - Resultado da busca

Artigo de periodico
The Use of Genetics for Reaching a Diagnosis in XY DSD (2022)
Ahmed, S. Faisal ; Alimusina, Malika ; Batista, Rafael Loch ; Domenice, Sorahia; Gomes, Nathalia Lisboa ; Mcgowan, Ruth; Patjamontri, Supitcha; Mendonca, Berenice Bilharinho de
Source: Sexual development. Unidade: FM
Subjects: DOENÇAS GENÉTICAS, HOMENS, DESENVOLVIMENTO SEXUAL
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ABNT
AHMED, S. Faisal et al. The Use of Genetics for Reaching a Diagnosis in XY DSD. Sexual development, v. 16, n. 2-3, p. 207-224, 2022Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/50425. Acesso em: 06 nov. 2024.
APA
Ahmed, S. F., Alimusina, M., Batista, R. L., Domenice, S., Gomes, N. L., Mcgowan, R., et al. (2022). The Use of Genetics for Reaching a Diagnosis in XY DSD. Sexual development, 16( 2-3), 207-224. doi:10.1159/000524881
NLM
Ahmed SF, Alimusina M, Batista RL, Domenice S, Gomes NL, Mcgowan R, Patjamontri S, Mendonca BB de. The Use of Genetics for Reaching a Diagnosis in XY DSD [Internet]. Sexual development. 2022 ; 16( 2-3): 207-224.[citado 2024 nov. 06 ] Available from: https://observatorio.fm.usp.br/handle/OPI/50425
Vancouver
Ahmed SF, Alimusina M, Batista RL, Domenice S, Gomes NL, Mcgowan R, Patjamontri S, Mendonca BB de. The Use of Genetics for Reaching a Diagnosis in XY DSD [Internet]. Sexual development. 2022 ; 16( 2-3): 207-224.[citado 2024 nov. 06 ] Available from: https://observatorio.fm.usp.br/handle/OPI/50425
Artigo de periodico
The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants (2011)
Nishi, Mirian Yumie; Costa, Elaine Maria Frade; Oliveira, Suely Beirão; Mendonca, Berenice Bilharinho; Domenice, Sorahia
Source: Hormone Research in Paediatrics. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, TRANSTORNOS GONADAIS, CROMOSSOMOS SEXUAIS (FISIOPATOLOGIA)
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ABNT
NISHI, Mirian Yumie et al. The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants. Hormone Research in Paediatrics, v. 75, n. 1, p. 26-31, 2011Tradução . . Disponível em: https://doi.org/10.1159/000316536. Acesso em: 06 nov. 2024.
APA
Nishi, M. Y., Costa, E. M. F., Oliveira, S. B., Mendonca, B. B., & Domenice, S. (2011). The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants. Hormone Research in Paediatrics, 75( 1), 26-31. doi:10.1159/000316536
NLM
Nishi MY, Costa EMF, Oliveira SB, Mendonca BB, Domenice S. The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants [Internet]. Hormone Research in Paediatrics. 2011 ; 75( 1): 26-31.[citado 2024 nov. 06 ] Available from: https://doi.org/10.1159/000316536
Vancouver
Nishi MY, Costa EMF, Oliveira SB, Mendonca BB, Domenice S. The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants [Internet]. Hormone Research in Paediatrics. 2011 ; 75( 1): 26-31.[citado 2024 nov. 06 ] Available from: https://doi.org/10.1159/000316536
Trabalho de evento-resumo periodico
Seven novel mutations in steroidogenic factor-1 (SF1/NR5A1) in 46,XY DSD patients (2010)
Machado, Aline Z.; Santos, Mariza G.; Domenice, Sorahia; Lando, Valeria S.; Brandao, Maria P.; Nishi, Miriam N.; Costa, Elaine E. M. F.; Ferraz-de-Souza, Bruno; Achermann, John C.; Lin, Lin; Mendonça, Berenice B.
Source: Hormone Research in Paediatrics. Conference titles: Annual meeting of the European Society for Pediatric Endocrinology (ESPE). Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, ANDROGÉNOS (PRODUÇÃO), FENÓTIPOS, GENITÁLIA FEMININA (ANORMALIDADES), RESUMOS (EVENTOS)
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ABNT
MACHADO, Aline Z. et al. Seven novel mutations in steroidogenic factor-1 (SF1/NR5A1) in 46,XY DSD patients. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 06 nov. 2024. , 2010
APA
Machado, A. Z., Santos, M. G., Domenice, S., Lando, V. S., Brandao, M. P., Nishi, M. N., et al. (2010). Seven novel mutations in steroidogenic factor-1 (SF1/NR5A1) in 46,XY DSD patients. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo.
NLM
Machado AZ, Santos MG, Domenice S, Lando VS, Brandao MP, Nishi MN, Costa EEMF, Ferraz-de-Souza B, Achermann JC, Lin L, Mendonça BB. Seven novel mutations in steroidogenic factor-1 (SF1/NR5A1) in 46,XY DSD patients. Hormone Research in Paediatrics. 2010 ; 74( suppl. 3): 113.[citado 2024 nov. 06 ]
Vancouver
Machado AZ, Santos MG, Domenice S, Lando VS, Brandao MP, Nishi MN, Costa EEMF, Ferraz-de-Souza B, Achermann JC, Lin L, Mendonça BB. Seven novel mutations in steroidogenic factor-1 (SF1/NR5A1) in 46,XY DSD patients. Hormone Research in Paediatrics. 2010 ; 74( suppl. 3): 113.[citado 2024 nov. 06 ]
Trabalho de evento-resumo periodico
Inactivating mutations in SF1 do not impair gonadotropin production in 46,XY patients with disorders of sex development (DSD) (2010)
Domenice, Sorahia; Santos, Mariza G.; Machado, Aline Z.; Hohl, Cecilia A.; Gadelha, Patricia Spara; Brandão, Maria P.; Correa, Rafaela V.; Lando, Valéria S.; Costa, Elaine M. F.; Mendonça, Berenice B.
Source: Hormone Research in Paediatrics. Conference titles: Annual meeting of the European Society for Pediatric Endocrinology (ESPE). Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, GONADOTROFINAS (PRODUÇÃO;SECREÇÃO), DISTÚRBIOS DA FUNÇÃO SEXUAL, RESUMOS (EVENTOS)
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ABNT
DOMENICE, Sorahia et al. Inactivating mutations in SF1 do not impair gonadotropin production in 46,XY patients with disorders of sex development (DSD). Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 06 nov. 2024. , 2010
APA
Domenice, S., Santos, M. G., Machado, A. Z., Hohl, C. A., Gadelha, P. S., Brandão, M. P., et al. (2010). Inactivating mutations in SF1 do not impair gonadotropin production in 46,XY patients with disorders of sex development (DSD). Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo.
NLM
Domenice S, Santos MG, Machado AZ, Hohl CA, Gadelha PS, Brandão MP, Correa RV, Lando VS, Costa EMF, Mendonça BB. Inactivating mutations in SF1 do not impair gonadotropin production in 46,XY patients with disorders of sex development (DSD). Hormone Research in Paediatrics. 2010 ; 74( suppl. 3): 207.[citado 2024 nov. 06 ]
Vancouver
Domenice S, Santos MG, Machado AZ, Hohl CA, Gadelha PS, Brandão MP, Correa RV, Lando VS, Costa EMF, Mendonça BB. Inactivating mutations in SF1 do not impair gonadotropin production in 46,XY patients with disorders of sex development (DSD). Hormone Research in Paediatrics. 2010 ; 74( suppl. 3): 207.[citado 2024 nov. 06 ]
Trabalho de evento-resumo periodico
A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome (2010)
Silva, Thatiana E.; Santos, Mariza G.; Martin, Regina M.; Nishi, Miriam N.; Costa, Elaine E. M. F.; Mendonca, Berenice B.; Domenice, Sorahia
Source: Hormone Research in Paediatrics. Conference titles: Annual meeting of the European Society for Pediatric Endocrinology (ESPE). Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, DISTÚRBIOS DA FUNÇÃO SEXUAL (GENÉTICA), DOENÇAS HEREDITÁRIAS (DIAGNÓSTICO), RESUMOS (EVENTOS)
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ABNT
SILVA, Thatiana E. et al. A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 06 nov. 2024. , 2010
APA
Silva, T. E., Santos, M. G., Martin, R. M., Nishi, M. N., Costa, E. E. M. F., Mendonca, B. B., & Domenice, S. (2010). A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo.
NLM
Silva TE, Santos MG, Martin RM, Nishi MN, Costa EEMF, Mendonca BB, Domenice S. A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome. Hormone Research in Paediatrics. 2010 ; 74( suppl. 3): 207.[citado 2024 nov. 06 ]
Vancouver
Silva TE, Santos MG, Martin RM, Nishi MN, Costa EEMF, Mendonca BB, Domenice S. A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome. Hormone Research in Paediatrics. 2010 ; 74( suppl. 3): 207.[citado 2024 nov. 06 ]
Trabalho de evento-resumo periodico
Absence of mutations in the promoter and coding regions of STRA8 gene in patients with 46,XX disorders of gonadal development (2008)
Santos, Mariza A. G.; Nishi, Mirian Y.; Gomes, Camila; Domenice, Sorahia; Mendonça, Berenice B.; Costa, Elaine M. F.
Source: Hormone Research. Conference titles: European Society for Paediatric Endocrinology (ESPE). Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, TRANSTORNOS GONADAIS, RESUMOS (EVENTOS)
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ABNT
SANTOS, Mariza A. G. et al. Absence of mutations in the promoter and coding regions of STRA8 gene in patients with 46,XX disorders of gonadal development. Hormone Research. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 06 nov. 2024. , 2008
APA
Santos, M. A. G., Nishi, M. Y., Gomes, C., Domenice, S., Mendonça, B. B., & Costa, E. M. F. (2008). Absence of mutations in the promoter and coding regions of STRA8 gene in patients with 46,XX disorders of gonadal development. Hormone Research. Basel: Faculdade de Medicina, Universidade de São Paulo.
NLM
Santos MAG, Nishi MY, Gomes C, Domenice S, Mendonça BB, Costa EMF. Absence of mutations in the promoter and coding regions of STRA8 gene in patients with 46,XX disorders of gonadal development. Hormone Research. 2008 ; 70 193.[citado 2024 nov. 06 ]
Vancouver
Santos MAG, Nishi MY, Gomes C, Domenice S, Mendonça BB, Costa EMF. Absence of mutations in the promoter and coding regions of STRA8 gene in patients with 46,XX disorders of gonadal development. Hormone Research. 2008 ; 70 193.[citado 2024 nov. 06 ]
Trabalho de evento-resumo periodico
A complex submicroscopic chromosomal imbalance in Xp 21,2 with microduplication and one microtriplication containing the DAX1 gene in a patient with 46,XY/47,XY,+markaryotype with partial gonadal dysgenesis and gonadoblastoma (2008)
Costa, Elaine M. F.; Nishi, Mirian Y.; Pinto, Emilia M.; Domenice, Sorahia; Mendonça, Berenice B.
Source: Hormone Research. Conference titles: European Society for Paediatric Endocrinology (ESPE). Unidade: FM
Subjects: CROMOSSOMOS, TRANSTORNOS GONADAIS, RESUMOS (EVENTOS)
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ABNT
COSTA, Elaine M. F. et al. A complex submicroscopic chromosomal imbalance in Xp 21,2 with microduplication and one microtriplication containing the DAX1 gene in a patient with 46,XY/47,XY,+markaryotype with partial gonadal dysgenesis and gonadoblastoma. Hormone Research. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 06 nov. 2024. , 2008
APA
Costa, E. M. F., Nishi, M. Y., Pinto, E. M., Domenice, S., & Mendonça, B. B. (2008). A complex submicroscopic chromosomal imbalance in Xp 21,2 with microduplication and one microtriplication containing the DAX1 gene in a patient with 46,XY/47,XY,+markaryotype with partial gonadal dysgenesis and gonadoblastoma. Hormone Research. Basel: Faculdade de Medicina, Universidade de São Paulo.
NLM
Costa EMF, Nishi MY, Pinto EM, Domenice S, Mendonça BB. A complex submicroscopic chromosomal imbalance in Xp 21,2 with microduplication and one microtriplication containing the DAX1 gene in a patient with 46,XY/47,XY,+markaryotype with partial gonadal dysgenesis and gonadoblastoma. Hormone Research. 2008 ; 70 69.[citado 2024 nov. 06 ]
Vancouver
Costa EMF, Nishi MY, Pinto EM, Domenice S, Mendonça BB. A complex submicroscopic chromosomal imbalance in Xp 21,2 with microduplication and one microtriplication containing the DAX1 gene in a patient with 46,XY/47,XY,+markaryotype with partial gonadal dysgenesis and gonadoblastoma. Hormone Research. 2008 ; 70 69.[citado 2024 nov. 06 ]

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