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Artigo de periodico
DLK1 Is a Novel Link Between Reproduction and Metabolism (2019)
Games, Larissa G; Cunha-silva, Marina; Crespo, Raiane P; Ramos, Carolina O; Montenegro, Luciana R; Maciel, Gustavo Arantes Rosa; Baracat, Edmund Chada ; Jorge, Alexander Augusto de Lima ; Mendonça, Berenice Bilharinho de ; Xavier, Ana Claudia Latronico
Source: Journal of clinical endocrinology & metabolism. Unidade: FM
Subjects: PUBERDADE PRECOCE, MUTAÇÃO GENÉTICA, PROTEÍNAS DA MEMBRANA, DIFERENCIAÇÃO CELULAR, TECIDO ADIPOSO, GANHO DE PESO, HIPERLIPIDEMIA
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ABNT
GAMES, Larissa G et al. DLK1 Is a Novel Link Between Reproduction and Metabolism. Journal of clinical endocrinology & metabolism, v. 104, n. 6, p. 2112-2120, 2019Tradução . . Disponível em: https://doi.org/10.1210/jc.2018-02010. Acesso em: 05 nov. 2024.
APA
Games, L. G., Cunha-silva, M., Crespo, R. P., Ramos, C. O., Montenegro, L. R., Maciel, G. A. R., et al. (2019). DLK1 Is a Novel Link Between Reproduction and Metabolism. Journal of clinical endocrinology & metabolism, 104( 6), 2112-2120. doi:10.1210/jc.2018-02010
NLM
Games LG, Cunha-silva M, Crespo RP, Ramos CO, Montenegro LR, Maciel GAR, Baracat EC, Jorge AA de L, Mendonça BB de, Xavier ACL. DLK1 Is a Novel Link Between Reproduction and Metabolism [Internet]. Journal of clinical endocrinology & metabolism. 2019 ; 104( 6): 2112-2120.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1210/jc.2018-02010
Vancouver
Games LG, Cunha-silva M, Crespo RP, Ramos CO, Montenegro LR, Maciel GAR, Baracat EC, Jorge AA de L, Mendonça BB de, Xavier ACL. DLK1 Is a Novel Link Between Reproduction and Metabolism [Internet]. Journal of clinical endocrinology & metabolism. 2019 ; 104( 6): 2112-2120.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1210/jc.2018-02010
Artigo de periodico
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery (2019)
Correa, Fernanda A; Nakaguma, Marilena; Madeira, Joao L. O; Nishi, Mirian Y; Abrao, Milena G; Jorge, Alexander Augusto de Lima; Carvalho, Luciani R; Arnhold, Ivo J. P; Mendonça, Berenice Bilharinho de
Source: Archives of endocrinology metabolism. Unidade: FM
Subjects: HORMÔNIOS DA ADENO-HIPÓFISE, MUTAÇÃO GENÉTICA, GENES HOMEOBOX
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ABNT
CORREA, Fernanda A et al. Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery. Archives of endocrinology metabolism, v. 63, n. 2, p. 167-174, 2019Tradução . . Disponível em: https://doi.org/10.20945/2359-3997000000139. Acesso em: 05 nov. 2024.
APA
Correa, F. A., Nakaguma, M., Madeira, J. L. O., Nishi, M. Y., Abrao, M. G., Jorge, A. A. de L., et al. (2019). Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery. Archives of endocrinology metabolism, 63( 2), 167-174. doi:10.20945/2359-3997000000139
NLM
Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abrao MG, Jorge AA de L, Carvalho LR, Arnhold IJP, Mendonça BB de. Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery [Internet]. Archives of endocrinology metabolism. 2019 ; 63( 2): 167-174.[citado 2024 nov. 05 ] Available from: https://doi.org/10.20945/2359-3997000000139
Vancouver
Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abrao MG, Jorge AA de L, Carvalho LR, Arnhold IJP, Mendonça BB de. Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery [Internet]. Archives of endocrinology metabolism. 2019 ; 63( 2): 167-174.[citado 2024 nov. 05 ] Available from: https://doi.org/10.20945/2359-3997000000139
Artigo de periodico
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein (2019)
Chamberlin, Adam; Huether, Robert; Machado, Aline Z; Groden, Michael; Liu, Hsiao-Mei; Upadhyay, Kinnari; Vivian, O; Gomes, Nathalia L; Lerario, Antonio M; Mendonça, Berenice Bilharinho de
Source: Human molecular genetics. Unidade: FM
Subjects: TRANSTORNOS DO DESENVOLVIMENTO SEXUAL, PROTEÍNAS QUINASES, MUTAÇÃO GENÉTICA, GENÉTICA MOLECULAR
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ABNT
CHAMBERLIN, Adam et al. Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein. Human molecular genetics, v. 28, n. 10, p. 1620-1628, 2019Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddz002. Acesso em: 05 nov. 2024.
APA
Chamberlin, A., Huether, R., Machado, A. Z., Groden, M., Liu, H. -M., Upadhyay, K., et al. (2019). Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein. Human molecular genetics, 28( 10), 1620-1628. doi:10.1093/hmg/ddz002
NLM
Chamberlin A, Huether R, Machado AZ, Groden M, Liu H-M, Upadhyay K, Vivian O, Gomes NL, Lerario AM, Mendonça BB de. Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein [Internet]. Human molecular genetics. 2019 ; 28( 10): 1620-1628.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1093/hmg/ddz002
Vancouver
Chamberlin A, Huether R, Machado AZ, Groden M, Liu H-M, Upadhyay K, Vivian O, Gomes NL, Lerario AM, Mendonça BB de. Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein [Internet]. Human molecular genetics. 2019 ; 28( 10): 1620-1628.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1093/hmg/ddz002
Artigo de periodico
Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation (2019)
Ferreira, Amanda Meneses; Brondani, Vania Balderrama; Helena, Vanessa Petry; Charchar, Helaine Laiz Silva; Zerbini, Maria Claudia Nogueira ; Leite, Luiz Antonio Senna; Hoff, Ana Oliveira; Xavier, Ana Claudia Latronico ; Mendonça, Berenice Bilharinho de ; Diz, Maria Del Pilar Estevez
Source: Journal of steroid biochemistry and molecular biology. Unidade: FM
Subjects: NEOPLASIAS EPITELIAIS E GLANDULARES, GENES SUPRESSORES DE TUMOR, MUTAÇÃO GENÉTICA, HERANÇA GENÉTICA
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ABNT
FERREIRA, Amanda Meneses et al. Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation. Journal of steroid biochemistry and molecular biology, v. 190, p. 250-255, 2019Tradução . . Disponível em: https://doi.org/10.1016/j.jsbmb.2019.04.011. Acesso em: 05 nov. 2024.
APA
Ferreira, A. M., Brondani, V. B., Helena, V. P., Charchar, H. L. S., Zerbini, M. C. N., Leite, L. A. S., et al. (2019). Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation. Journal of steroid biochemistry and molecular biology, 190, 250-255. doi:10.1016/j.jsbmb.2019.04.011
NLM
Ferreira AM, Brondani VB, Helena VP, Charchar HLS, Zerbini MCN, Leite LAS, Hoff AO, Xavier ACL, Mendonça BB de, Diz MDPE. Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation [Internet]. Journal of steroid biochemistry and molecular biology. 2019 ; 190 250-255.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1016/j.jsbmb.2019.04.011
Vancouver
Ferreira AM, Brondani VB, Helena VP, Charchar HLS, Zerbini MCN, Leite LAS, Hoff AO, Xavier ACL, Mendonça BB de, Diz MDPE. Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation [Internet]. Journal of steroid biochemistry and molecular biology. 2019 ; 190 250-255.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1016/j.jsbmb.2019.04.011
Artigo de periodico
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant (2019)
Gomes, Nathalia L.; Mendonça, Berenice Bilharinho de
Source: Clinical genetics. Unidade: FM
Subjects: ANORMALIDADES UROGENITAIS, GENES SUPRESSORES DE TUMOR, NEOPLASIAS RENAIS, MUTAÇÃO GENÉTICA
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ABNT
GOMES, Nathalia L. e MENDONÇA, Berenice Bilharinho de. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. Clinical genetics, v. 95, n. 1, p. 172-176, 2019Tradução . . Disponível em: https://doi.org/10.1111/cge.13459. Acesso em: 05 nov. 2024.
APA
Gomes, N. L., & Mendonça, B. B. de. (2019). A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. Clinical genetics, 95( 1), 172-176. doi:10.1111/cge.13459
NLM
Gomes NL, Mendonça BB de. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant [Internet]. Clinical genetics. 2019 ; 95( 1): 172-176.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1111/cge.13459
Vancouver
Gomes NL, Mendonça BB de. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant [Internet]. Clinical genetics. 2019 ; 95( 1): 172-176.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1111/cge.13459
Artigo de periodico
KCNJ5 somatic mutation is a predictor of hypertension remission after adrenalectomy for unilateral primary aldosteronism (2019)
Vilela, Leticia A. P; Rassi-cruz, Marcela; Guimaraes, Augusto G; Moises, Caio C. S; Freitas, Thais C; Alencar, Natalia P; Zerbini, Maria Claudia Nogueira ; Xavier, Ana Claudia Latronico ; Mendonça, Berenice Bilharinho de ; Drager, Luciano Ferreira
Source: Journal of clinical endocrinology & metabolism. Unidade: FM
Subjects: HIPERTENSÃO, GLÂNDULAS SUPRARRENAIS, ALDOSTERONA, CANAIS DE POTÁSSIO, MUTAÇÃO GENÉTICA
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ABNT
VILELA, Leticia A. P et al. KCNJ5 somatic mutation is a predictor of hypertension remission after adrenalectomy for unilateral primary aldosteronism. Journal of clinical endocrinology & metabolism, v. 104, n. 10, p. 4695-4702, 2019Tradução . . Disponível em: https://doi.org/10.1210/jc.2019-00531. Acesso em: 05 nov. 2024.
APA
Vilela, L. A. P., Rassi-cruz, M., Guimaraes, A. G., Moises, C. C. S., Freitas, T. C., Alencar, N. P., et al. (2019). KCNJ5 somatic mutation is a predictor of hypertension remission after adrenalectomy for unilateral primary aldosteronism. Journal of clinical endocrinology & metabolism, 104( 10), 4695-4702. doi:10.1210/jc.2019-00531
NLM
Vilela LAP, Rassi-cruz M, Guimaraes AG, Moises CCS, Freitas TC, Alencar NP, Zerbini MCN, Xavier ACL, Mendonça BB de, Drager LF. KCNJ5 somatic mutation is a predictor of hypertension remission after adrenalectomy for unilateral primary aldosteronism [Internet]. Journal of clinical endocrinology & metabolism. 2019 ; 104( 10): 4695-4702.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1210/jc.2019-00531
Vancouver
Vilela LAP, Rassi-cruz M, Guimaraes AG, Moises CCS, Freitas TC, Alencar NP, Zerbini MCN, Xavier ACL, Mendonça BB de, Drager LF. KCNJ5 somatic mutation is a predictor of hypertension remission after adrenalectomy for unilateral primary aldosteronism [Internet]. Journal of clinical endocrinology & metabolism. 2019 ; 104( 10): 4695-4702.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1210/jc.2019-00531
Artigo de periodico
Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing (2018)
Franca, M. M.; Funari, M. F. A.; Nishi, M. Y.; Narcizo, A. M.; Domenice, S.; Costa, E. M. F.; Lerario, A. M; Mendonça, Berenice Bilharinho de
Source: Clinical genetics. Unidade: FM
Subjects: SEQUENCIAMENTO GENÉTICO, DOENÇAS GENÉTICAS, BRASILEIROS, MUTAÇÃO GENÉTICA, INFERTILIDADE FEMININA
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ABNT
FRANCA, M. M. et al. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. Clinical genetics, v. 93, n. 2, p. 408-411, 2018Tradução . . Disponível em: https://doi.org/10.1111/cge.13156. Acesso em: 05 nov. 2024.
APA
Franca, M. M., Funari, M. F. A., Nishi, M. Y., Narcizo, A. M., Domenice, S., Costa, E. M. F., et al. (2018). Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. Clinical genetics, 93( 2), 408-411. doi:10.1111/cge.13156
NLM
Franca MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonça BB de. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing [Internet]. Clinical genetics. 2018 ; 93( 2): 408-411.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1111/cge.13156
Vancouver
Franca MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonça BB de. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing [Internet]. Clinical genetics. 2018 ; 93( 2): 408-411.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1111/cge.13156
Artigo de periodico
The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH) (2018)
Cavalcante, Isadora Pontes; Nishi, Mirian Yumie; Zerbini, Maria Claudia Nogueira; Almeida, Madson Queiroz de; Brondani, Vânia Balderrama; Botelho, Maria Luiza Anhaia de Arruda; Tanno, Fabio Yoshiaki; Srougi, Victor; Chambo, José Luis; Mendonça, Berenice Bilharinho de; Bertherat, Jérôme; Lotfi, Claudimara Ferini Pacicco ; Fragoso, Maria Candida B
Source: Molecular and cellular endocrinology. Unidades: FM, ICB
Subjects: TÉCNICAS CITOLÓGICAS, MUTAÇÃO GENÉTICA, EXPRESSÃO GÊNICA, HIPERPLASIAS, CULTURA DE CÉLULAS, PROLIFERAÇÃO CELULAR
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ABNT
CAVALCANTE, Isadora Pontes et al. The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH). Molecular and cellular endocrinology, v. 460, n. C, p. 36-46, 2018Tradução . . Disponível em: https://doi.org/10.1016/j.mce.2017.06.027. Acesso em: 05 nov. 2024.
APA
Cavalcante, I. P., Nishi, M. Y., Zerbini, M. C. N., Almeida, M. Q. de, Brondani, V. B., Botelho, M. L. A. de A., et al. (2018). The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH). Molecular and cellular endocrinology, 460( C), 36-46. doi:10.1016/j.mce.2017.06.027
NLM
Cavalcante IP, Nishi MY, Zerbini MCN, Almeida MQ de, Brondani VB, Botelho MLA de A, Tanno FY, Srougi V, Chambo JL, Mendonça BB de, Bertherat J, Lotfi CFP, Fragoso MCB. The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH) [Internet]. Molecular and cellular endocrinology. 2018 ; 460( C): 36-46.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1016/j.mce.2017.06.027
Vancouver
Cavalcante IP, Nishi MY, Zerbini MCN, Almeida MQ de, Brondani VB, Botelho MLA de A, Tanno FY, Srougi V, Chambo JL, Mendonça BB de, Bertherat J, Lotfi CFP, Fragoso MCB. The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH) [Internet]. Molecular and cellular endocrinology. 2018 ; 460( C): 36-46.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1016/j.mce.2017.06.027
Artigo de periodico
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes (2018)
Correa, Fernanda A.; Jorge, Alexander Augusto de Lima; Mendonça, Berenice Bilharinho de
Source: Clinical endocrinology. Unidade: FM
Subjects: DOENÇAS CONGÊNITAS, HORMÔNIOS HIPOFISÁRIOS, MUTAÇÃO GENÉTICA
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ABNT
CORREA, Fernanda A. e JORGE, Alexander Augusto de Lima e MENDONÇA, Berenice Bilharinho de. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. Clinical endocrinology, v. 88, n. 3, p. 425-431, 2018Tradução . . Disponível em: https://doi.org/10.1111/cen.13535. Acesso em: 05 nov. 2024.
APA
Correa, F. A., Jorge, A. A. de L., & Mendonça, B. B. de. (2018). Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. Clinical endocrinology, 88( 3), 425-431. doi:10.1111/cen.13535
NLM
Correa FA, Jorge AA de L, Mendonça BB de. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes [Internet]. Clinical endocrinology. 2018 ; 88( 3): 425-431.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1111/cen.13535
Vancouver
Correa FA, Jorge AA de L, Mendonça BB de. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes [Internet]. Clinical endocrinology. 2018 ; 88( 3): 425-431.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1111/cen.13535
Artigo de periodico
Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor (2018)
Batista, Rafael Loch; Rodrigues, Andresa De Santi; Machado, Aline Zamboni; Nishi, Mirian; Cunha, Flavia Siqueira; Silva, Rosana Barbosa; Costa, Elaine M. F.; Mendonça, Berenice Bilharinho de; Domenice, Sorahia
Source: Journal of pediatric endocrinology & metabolism. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, ANDRÓGENOS, RECEPTORES ANDROGÊNICOS
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ABNT
BATISTA, Rafael Loch et al. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. Journal of pediatric endocrinology & metabolism, v. 31, n. 2, p. 223-228, 2018Tradução . . Disponível em: https://doi.org/10.1515/jpem-2017-0095. Acesso em: 05 nov. 2024.
APA
Batista, R. L., Rodrigues, A. D. S., Machado, A. Z., Nishi, M., Cunha, F. S., Silva, R. B., et al. (2018). Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. Journal of pediatric endocrinology & metabolism, 31( 2), 223-228. doi:10.1515/jpem-2017-0095
NLM
Batista RL, Rodrigues ADS, Machado AZ, Nishi M, Cunha FS, Silva RB, Costa EMF, Mendonça BB de, Domenice S. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor [Internet]. Journal of pediatric endocrinology & metabolism. 2018 ; 31( 2): 223-228.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1515/jpem-2017-0095
Vancouver
Batista RL, Rodrigues ADS, Machado AZ, Nishi M, Cunha FS, Silva RB, Costa EMF, Mendonça BB de, Domenice S. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor [Internet]. Journal of pediatric endocrinology & metabolism. 2018 ; 31( 2): 223-228.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1515/jpem-2017-0095
Artigo de periodico-carta/editorial
A severe phenotype of Kennedy diseade associated with a very large cag repeat expansion [Editorial] (2018)
Madeira, Joao L. O.; Chadi, Gerson; Mendonça, Berenice Bilharinho de
Source: Muscle & nerve. Unidade: FM
Subjects: ATROFIA MUSCULAR, MUTAÇÃO GENÉTICA, RECEPTORES ANDROGÊNICOS, CARDIOPATIAS
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ABNT
MADEIRA, Joao L. O. e CHADI, Gerson e MENDONÇA, Berenice Bilharinho de. A severe phenotype of Kennedy diseade associated with a very large cag repeat expansion [Editorial]. Muscle & nerve. Hoboken: Faculdade de Medicina, Universidade de São Paulo. Disponível em: https://doi.org/10.1002/mus.25952. Acesso em: 05 nov. 2024. , 2018
APA
Madeira, J. L. O., Chadi, G., & Mendonça, B. B. de. (2018). A severe phenotype of Kennedy diseade associated with a very large cag repeat expansion [Editorial]. Muscle & nerve. Hoboken: Faculdade de Medicina, Universidade de São Paulo. doi:10.1002/mus.25952
NLM
Madeira JLO, Chadi G, Mendonça BB de. A severe phenotype of Kennedy diseade associated with a very large cag repeat expansion [Editorial] [Internet]. Muscle & nerve. 2018 ; 57( 1): E95-E97.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1002/mus.25952
Vancouver
Madeira JLO, Chadi G, Mendonça BB de. A severe phenotype of Kennedy diseade associated with a very large cag repeat expansion [Editorial] [Internet]. Muscle & nerve. 2018 ; 57( 1): E95-E97.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1002/mus.25952
Artigo de periodico
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development (2018)
Baetens, Dorien; Mendonça, Berenice Bilharinho de
Source: Genetics in medicine. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, POLIMORFISMO, RECEPTORES HORMONAIS, SEQUENCIAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BAETENS, Dorien e MENDONÇA, Berenice Bilharinho de. Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development. Genetics in medicine, v. 20, n. 7, p. 717-727, 2018Tradução . . Disponível em: https://doi.org/10.1038/gim.2017.163. Acesso em: 05 nov. 2024.
APA
Baetens, D., & Mendonça, B. B. de. (2018). Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development. Genetics in medicine, 20( 7), 717-727. doi:10.1038/gim.2017.163
NLM
Baetens D, Mendonça BB de. Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development [Internet]. Genetics in medicine. 2018 ; 20( 7): 717-727.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1038/gim.2017.163
Vancouver
Baetens D, Mendonça BB de. Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development [Internet]. Genetics in medicine. 2018 ; 20( 7): 717-727.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1038/gim.2017.163
Artigo de periodico
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis (2018)
Gomes, Nathalia L.; Mendonça, Berenice Bilharinho de
Source: Clinical endocrinology. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, TESTOSTERONA, GENITÁLIA MASCULINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GOMES, Nathalia L. e MENDONÇA, Berenice Bilharinho de. Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. Clinical endocrinology, v. 89, n. 2, p. 164-177, 2018Tradução . . Disponível em: https://doi.org/10.1111/cen.13717. Acesso em: 05 nov. 2024.
APA
Gomes, N. L., & Mendonça, B. B. de. (2018). Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. Clinical endocrinology, 89( 2), 164-177. doi:10.1111/cen.13717
NLM
Gomes NL, Mendonça BB de. Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis [Internet]. Clinical endocrinology. 2018 ; 89( 2): 164-177.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1111/cen.13717
Vancouver
Gomes NL, Mendonça BB de. Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis [Internet]. Clinical endocrinology. 2018 ; 89( 2): 164-177.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1111/cen.13717
Artigo de periodico
Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region (2018)
Macedo, Delanie B.; Montenegro, Luciana Ribeiro; Mendonça, Berenice Bilharinho de; Jorge, Alexander Augusto de Lima; Xavier, Ana Claudia Latronico
Source: Neuroendocrinology. Unidade: FM
Subjects: DOENÇAS GENÉTICAS, PUBERDADE PRECOCE, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MACEDO, Delanie B. et al. Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region. Neuroendocrinology, v. 107, n. 2, p. 127-132, 2018Tradução . . Disponível em: https://doi.org/10.1159/000490059. Acesso em: 05 nov. 2024.
APA
Macedo, D. B., Montenegro, L. R., Mendonça, B. B. de, Jorge, A. A. de L., & Xavier, A. C. L. (2018). Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region. Neuroendocrinology, 107( 2), 127-132. doi:10.1159/000490059
NLM
Macedo DB, Montenegro LR, Mendonça BB de, Jorge AA de L, Xavier ACL. Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region [Internet]. Neuroendocrinology. 2018 ; 107( 2): 127-132.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1159/000490059
Vancouver
Macedo DB, Montenegro LR, Mendonça BB de, Jorge AA de L, Xavier ACL. Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region [Internet]. Neuroendocrinology. 2018 ; 107( 2): 127-132.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1159/000490059
Trabalho de evento-resumo periodico
Paternally inherited DLK1 deletion as novel cause of familial central precocious puberty (2017)
Dauber, Andrew; Montenegro, Luciana Ribeiro; Mendonça, Berenice Bilharinho de; Xavier, Ana Claudia Latronico
Source: Hormone research in paediatrics. Conference titles: Joint meeting of paediatric endocrinology. Unidade: FM
Subjects: PUBERDADE PRECOCE, MUTAÇÃO GENÉTICA, ANORMALIDADES CROMOSSÔMICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
DAUBER, Andrew et al. Paternally inherited DLK1 deletion as novel cause of familial central precocious puberty. Hormone research in paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 05 nov. 2024. , 2017
APA
Dauber, A., Montenegro, L. R., Mendonça, B. B. de, & Xavier, A. C. L. (2017). Paternally inherited DLK1 deletion as novel cause of familial central precocious puberty. Hormone research in paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo.
NLM
Dauber A, Montenegro LR, Mendonça BB de, Xavier ACL. Paternally inherited DLK1 deletion as novel cause of familial central precocious puberty. Hormone research in paediatrics. 2017 ; 88[citado 2024 nov. 05 ]
Vancouver
Dauber A, Montenegro LR, Mendonça BB de, Xavier ACL. Paternally inherited DLK1 deletion as novel cause of familial central precocious puberty. Hormone research in paediatrics. 2017 ; 88[citado 2024 nov. 05 ]
Trabalho de evento-resumo periodico
Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations (2017)
Madeira, Joao L. O.; Jorge, Alexander Augusto de Lima; Mendonça, Berenice Bilharinho de
Source: Hormone research in paediatrics. Conference titles: Joint meeting of paediatric endocrinology. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, HORMÔNIOS HIPOFISÁRIOS, SEQUENCIAMENTO GENÉTICO, ESTUDOS DE COORTES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MADEIRA, Joao L. O. e JORGE, Alexander Augusto de Lima e MENDONÇA, Berenice Bilharinho de. Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations. Hormone research in paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 05 nov. 2024. , 2017
APA
Madeira, J. L. O., Jorge, A. A. de L., & Mendonça, B. B. de. (2017). Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations. Hormone research in paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo.
NLM
Madeira JLO, Jorge AA de L, Mendonça BB de. Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations. Hormone research in paediatrics. 2017 ; 88 43-44.[citado 2024 nov. 05 ]
Vancouver
Madeira JLO, Jorge AA de L, Mendonça BB de. Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations. Hormone research in paediatrics. 2017 ; 88 43-44.[citado 2024 nov. 05 ]
Artigo de periodico
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic (2017)
Bessa, Danielle S.; Montenegro, Luciana Ribeiro; Mendonça, Berenice Bilharinho de; Xavier, Ana Claudia Latronico
Source: Neuroendocrinology. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, PUBERDADE PRECOCE, DOENÇAS HEREDITÁRIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BESSA, Danielle S. et al. High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic. Neuroendocrinology, v. 105, n. 1, p. 17-25, 2017Tradução . . Disponível em: https://doi.org/10.1159/000446963. Acesso em: 05 nov. 2024.
APA
Bessa, D. S., Montenegro, L. R., Mendonça, B. B. de, & Xavier, A. C. L. (2017). High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic. Neuroendocrinology, 105( 1), 17-25. doi:10.1159/000446963
NLM
Bessa DS, Montenegro LR, Mendonça BB de, Xavier ACL. High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic [Internet]. Neuroendocrinology. 2017 ; 105( 1): 17-25.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1159/000446963
Vancouver
Bessa DS, Montenegro LR, Mendonça BB de, Xavier ACL. High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic [Internet]. Neuroendocrinology. 2017 ; 105( 1): 17-25.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1159/000446963
Artigo de periodico
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome (2017)
Batista, Rafael Loch; Rodrigues, Andresa di Santi; Nishi, Miriam Yumie; Gomes, Nathalia Lisboa; Faria Junior, José Antonio Diniz; Moraes, Daniela Rodrigues; Carvalho, Luciani Renata; Costa, Elaine Maria Frede; Domenice, Sorahia; Mendonça, Berenice Bilharinho de
Source: The Journal of Steroid Biochemistry and Molecular Biology. Unidade: FM
Subjects: ANDRÓGENOS, RECEPTORES ANDROGÊNICOS, MUTAÇÃO GENÉTICA, DESENVOLVIMENTO SEXUAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BATISTA, Rafael Loch et al. A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. The Journal of Steroid Biochemistry and Molecular Biology, v. 174, p. 14-16, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.jsbmb.2017.07.020. Acesso em: 05 nov. 2024.
APA
Batista, R. L., Rodrigues, A. di S., Nishi, M. Y., Gomes, N. L., Faria Junior, J. A. D., Moraes, D. R., et al. (2017). A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. The Journal of Steroid Biochemistry and Molecular Biology, 174, 14-16. doi:10.1016/j.jsbmb.2017.07.020
NLM
Batista RL, Rodrigues A di S, Nishi MY, Gomes NL, Faria Junior JAD, Moraes DR, Carvalho LR, Costa EMF, Domenice S, Mendonça BB de. A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome [Internet]. The Journal of Steroid Biochemistry and Molecular Biology. 2017 ; 174 14-16.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1016/j.jsbmb.2017.07.020
Vancouver
Batista RL, Rodrigues A di S, Nishi MY, Gomes NL, Faria Junior JAD, Moraes DR, Carvalho LR, Costa EMF, Domenice S, Mendonça BB de. A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome [Internet]. The Journal of Steroid Biochemistry and Molecular Biology. 2017 ; 174 14-16.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1016/j.jsbmb.2017.07.020
Artigo de periodico
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations (2017)
Madeira, Joao Lo; Jorge, Alexander Augusto de Lima; Mendonça, Berenice Bilharinho de
Source: Clinical endocrinology. Unidade: FM
Subjects: HORMÔNIOS HIPOFISÁRIOS, SEQUENCIAMENTO GENÉTICO, BRASILEIROS, ESTUDOS DE COORTES, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MADEIRA, Joao Lo e JORGE, Alexander Augusto de Lima e MENDONÇA, Berenice Bilharinho de. Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. Clinical endocrinology, v. 87, n. 6, p. 725-732, 2017Tradução . . Disponível em: https://doi.org/10.1111/cen.13430. Acesso em: 05 nov. 2024.
APA
Madeira, J. L., Jorge, A. A. de L., & Mendonça, B. B. de. (2017). Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. Clinical endocrinology, 87( 6), 725-732. doi:10.1111/cen.13430
NLM
Madeira JL, Jorge AA de L, Mendonça BB de. Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations [Internet]. Clinical endocrinology. 2017 ; 87( 6): 725-732.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1111/cen.13430
Vancouver
Madeira JL, Jorge AA de L, Mendonça BB de. Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations [Internet]. Clinical endocrinology. 2017 ; 87( 6): 725-732.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1111/cen.13430
Trabalho de evento-resumo periodico
Targeted Massively Parallel Sequencing of 128 Candidate Genes Reveals a Potential Molecular Cause in 75% of Cases with Idiopathic, Severe or Familial Osteoporosis. (2017)
Rocha-braz, Manuela; França, Monica; Fernandes, Adriana; Martin, Regina; Mendonça, Berenice Bilharinho de; Souza, Bruno Ferras de
Source: Journal of bone and mineral research. Conference titles: Annual Meeting of the American-Society-for-Bone-and-Mineral-Research (ASBMR). Unidade: FM
Subjects: OSTEOPOROSE, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROCHA-BRAZ, Manuela et al. Targeted Massively Parallel Sequencing of 128 Candidate Genes Reveals a Potential Molecular Cause in 75% of Cases with Idiopathic, Severe or Familial Osteoporosis. Journal of bone and mineral research. Hoboken: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 05 nov. 2024. , 2017
APA
Rocha-braz, M., França, M., Fernandes, A., Martin, R., Mendonça, B. B. de, & Souza, B. F. de. (2017). Targeted Massively Parallel Sequencing of 128 Candidate Genes Reveals a Potential Molecular Cause in 75% of Cases with Idiopathic, Severe or Familial Osteoporosis. Journal of bone and mineral research. Hoboken: Faculdade de Medicina, Universidade de São Paulo.
NLM
Rocha-braz M, França M, Fernandes A, Martin R, Mendonça BB de, Souza BF de. Targeted Massively Parallel Sequencing of 128 Candidate Genes Reveals a Potential Molecular Cause in 75% of Cases with Idiopathic, Severe or Familial Osteoporosis. Journal of bone and mineral research. 2017 ; 32 S372-S372.[citado 2024 nov. 05 ]
Vancouver
Rocha-braz M, França M, Fernandes A, Martin R, Mendonça BB de, Souza BF de. Targeted Massively Parallel Sequencing of 128 Candidate Genes Reveals a Potential Molecular Cause in 75% of Cases with Idiopathic, Severe or Familial Osteoporosis. Journal of bone and mineral research. 2017 ; 32 S372-S372.[citado 2024 nov. 05 ]

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