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Artigo de periodico
Evaluation of SHOX defects in the era of next-generation sequencing (2019)
Funari, Mariana F. A; Barros, Juliana S. de; Santana, Lucas S; Lerario, Antonio M; Freire, Bruna L; Homma, Thais K; Vasques, Gabriela A; Mendonça, Berenice Bilharinho de ; Nishi, Mirian Y; Jorge, Alexander Augusto de Lima
Source: Clinical genetics. Unidade: FM
Subjects: GENES HOMEOBOX, MUTAÇÃO, INSUFICIÊNCIA DE CRESCIMENTO, GENÔMICA, SEQUENCIAMENTO GENÉTICO
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ABNT
FUNARI, Mariana F. A; BARROS, Juliana S. de; SANTANA, Lucas S; et al. Evaluation of SHOX defects in the era of next-generation sequencing. Clinical genetics, Hoboken, v. 96, n. 3, p. 261-265, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/33411 > DOI: 10.1111/cge.13587.
APA
Funari, M. F. A., Barros, J. S. de, Santana, L. S., Lerario, A. M., Freire, B. L., Homma, T. K., et al. (2019). Evaluation of SHOX defects in the era of next-generation sequencing. Clinical genetics, 96( 3), 261-265. doi:10.1111/cge.13587
NLM
Funari MFA, Barros JS de, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonça BB de, Nishi MY, Jorge AA de L. Evaluation of SHOX defects in the era of next-generation sequencing [Internet]. Clinical genetics. 2019 ; 96( 3): 261-265.Available from: http://observatorio.fm.usp.br/handle/OPI/33411
Vancouver
Funari MFA, Barros JS de, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonça BB de, Nishi MY, Jorge AA de L. Evaluation of SHOX defects in the era of next-generation sequencing [Internet]. Clinical genetics. 2019 ; 96( 3): 261-265.Available from: http://observatorio.fm.usp.br/handle/OPI/33411
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; CUNHA-SILVA, Marina; CRESPO, Raiane P; et al. DLK1 Is a Novel Link Between Reproduction and Metabolism. Journal of clinical endocrinology & metabolism, Washington, v. 104, n. 6, p. 2112-2120, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/33128 > DOI: 10.1210/jc.2018-02010.
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.Available from: http://observatorio.fm.usp.br/handle/OPI/33128
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.Available from: http://observatorio.fm.usp.br/handle/OPI/33128
Artigo de periodico
ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome (2019)
Scalco, Renata C; Trarbach, Ericka B; Albuquerque, Edoarda V. A; Homma, Thais K; Inoue-Lima, Thais H; Nishi, Mirian Y; Mendonça, Berenice Bilharinho de ; Jorge, Alexander Augusto de Lima
Source: Endocrine connections. Unidade: FM
Subjects: TRANSTORNOS DO DESENVOLVIMENTO SEXUAL, POLIMORFISMO, DENSIDADE ÓSSEA, MAMA, ÚTERO, TERAPIA DE REPOSIÇÃO DE ESTRÓGENOS, RECEPTORES DE ESTEROIDES
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ABNT
SCALCO, Renata C; TRARBACH, Ericka B; ALBUQUERQUE, Edoarda V. A; et al. ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome. Endocrine connections, Bristol, v. 8, n. 11, p. 1513-1519, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/34275 > DOI: 10.1530/EC-19-0398.
APA
Scalco, R. C., Trarbach, E. B., Albuquerque, E. V. A., Homma, T. K., Inoue-Lima, T. H., Nishi, M. Y., et al. (2019). ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome. Endocrine connections, 8( 11), 1513-1519. doi:10.1530/EC-19-0398
NLM
Scalco RC, Trarbach EB, Albuquerque EVA, Homma TK, Inoue-Lima TH, Nishi MY, Mendonça BB de, Jorge AA de L. ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome [Internet]. Endocrine connections. 2019 ; 8( 11): 1513-1519.Available from: http://observatorio.fm.usp.br/handle/OPI/34275
Vancouver
Scalco RC, Trarbach EB, Albuquerque EVA, Homma TK, Inoue-Lima TH, Nishi MY, Mendonça BB de, Jorge AA de L. ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome [Internet]. Endocrine connections. 2019 ; 8( 11): 1513-1519.Available from: http://observatorio.fm.usp.br/handle/OPI/34275
Artigo de periodico
Premature pubarche due to exogenous testosterone gel or intense diaper rash prevention cream use: a case series (2019)
Ramos, Carolina de Oliveira; Macedo, Delanie Bulcao; Bachega, Tania Aparecida Sartori Sanchez ; Nascimento, Marilza Leal; Madureira, Guiomar; Xavier, Ana Claudia Latronico ; Brito, Vinicius Nahime; Mendonça, Berenice Bilharinho de
Source: Hormone research in paediatrics. Unidade: FM
Subjects: PUBERDADE PRECOCE, TESTOSTERONA, MEDICAMENTO TÓPICO, DERMATITE DE CONTATO
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ABNT
RAMOS, Carolina de Oliveira; MACEDO, Delanie Bulcao; BACHEGA, Tania Aparecida Sartori Sanchez; et al. Premature pubarche due to exogenous testosterone gel or intense diaper rash prevention cream use: a case series. Hormone research in paediatrics, Basel, v. 91, n. 6, p. 411-415, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/34299 > DOI: 10.1159/000495664.
APA
Ramos, C. de O., Macedo, D. B., Bachega, T. A. S. S., Nascimento, M. L., Madureira, G., Xavier, A. C. L., et al. (2019). Premature pubarche due to exogenous testosterone gel or intense diaper rash prevention cream use: a case series. Hormone research in paediatrics, 91( 6), 411-415. doi:10.1159/000495664
NLM
Ramos C de O, Macedo DB, Bachega TASS, Nascimento ML, Madureira G, Xavier ACL, Brito VN, Mendonça BB de. Premature pubarche due to exogenous testosterone gel or intense diaper rash prevention cream use: a case series [Internet]. Hormone research in paediatrics. 2019 ; 91( 6): 411-415.Available from: http://observatorio.fm.usp.br/handle/OPI/34299
Vancouver
Ramos C de O, Macedo DB, Bachega TASS, Nascimento ML, Madureira G, Xavier ACL, Brito VN, Mendonça BB de. Premature pubarche due to exogenous testosterone gel or intense diaper rash prevention cream use: a case series [Internet]. Hormone research in paediatrics. 2019 ; 91( 6): 411-415.Available from: http://observatorio.fm.usp.br/handle/OPI/34299
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CORREA, Fernanda A; NAKAGUMA, Marilena; MADEIRA, Joao L. O; et al. Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery. Archives of endocrinology metabolism, Rio De Janeiro, Rj, v. 63, n. 2, p. 167-174, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/32419 > DOI: 10.20945/2359-3997000000139.
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.Available from: http://observatorio.fm.usp.br/handle/OPI/32419
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.Available from: http://observatorio.fm.usp.br/handle/OPI/32419
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; HUETHER, Robert; MACHADO, Aline Z; et al. Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein. Human molecular genetics, Oxford, v. 28, n. 10, p. 1620-1628, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/32997 > DOI: 10.1093/hmg/ddz002.
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.Available from: http://observatorio.fm.usp.br/handle/OPI/32997
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.Available from: http://observatorio.fm.usp.br/handle/OPI/32997
Artigo de periodico
Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency (2019)
Franca, Monica M; Nishi, Mirian Y; Funari, Mariana F. A; Lerario, Antonio M; Baracat, Edmund Chada; Hayashida, Sylvia A. Y; Maciel, Gustavo Arantes Rosa; Jorge, Alexander Augusto de Lima; Mendonça, Berenice Bilharinho de
Source: European journal of medical genetics. Unidade: FM
Subjects: DOENÇAS OVARIANAS, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FRANCA, Monica M; NISHI, Mirian Y; FUNARI, Mariana F. A; et al. Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency. European journal of medical genetics, Amsterdam, v. 62, n. 3, p. 186-189, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/31180 > DOI: 10.1016/j.ejmg.2018.07.008.
APA
Franca, M. M., Nishi, M. Y., Funari, M. F. A., Lerario, A. M., Baracat, E. C., Hayashida, S. A. Y., et al. (2019). Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency. European journal of medical genetics, 62( 3), 186-189. doi:10.1016/j.ejmg.2018.07.008
NLM
Franca MM, Nishi MY, Funari MFA, Lerario AM, Baracat EC, Hayashida SAY, Maciel GAR, Jorge AA de L, Mendonça BB de. Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency [Internet]. European journal of medical genetics. 2019 ; 62( 3): 186-189.Available from: http://observatorio.fm.usp.br/handle/OPI/31180
Vancouver
Franca MM, Nishi MY, Funari MFA, Lerario AM, Baracat EC, Hayashida SAY, Maciel GAR, Jorge AA de L, Mendonça BB de. Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency [Internet]. European journal of medical genetics. 2019 ; 62( 3): 186-189.Available from: http://observatorio.fm.usp.br/handle/OPI/31180
Artigo de periodico-carta/editorial
Variations of sex development [Carta]: the first German interdisciplinary consensus paper (2019)
Sircili, M. H. P; Denes, F. T; Mendonça, Berenice Bilharinho de
Source: Journal of pediatric urology. Unidade: FM
Subjects: DESENVOLVIMENTO SEXUAL, CONSENSO, DOENÇAS DOS GENITAIS FEMININOS, DOENÇAS DOS GENITAIS MASCULINOS, PROCEDIMENTOS CIRÚRGICOS UROGENITAIS
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ABNT
SIRCILI, M. H. P; DENES, F. T; MENDONÇA, Berenice Bilharinho de. Variations of sex development [Carta]: the first German interdisciplinary consensus paper. Journal of pediatric urology[S.l: s.n.], 2019.Disponível em: DOI: 10.1016/j.jpurol.2019.06.026.
APA
Sircili, M. H. P., Denes, F. T., & Mendonça, B. B. de. (2019). Variations of sex development [Carta]: the first German interdisciplinary consensus paper. Journal of pediatric urology. Oxford. doi:10.1016/j.jpurol.2019.06.026
NLM
Sircili MHP, Denes FT, Mendonça BB de. Variations of sex development [Carta]: the first German interdisciplinary consensus paper [Internet]. Journal of pediatric urology. 2019 ; 15( 5): 585-585.Available from: http://observatorio.fm.usp.br/handle/OPI/34291
Vancouver
Sircili MHP, Denes FT, Mendonça BB de. Variations of sex development [Carta]: the first German interdisciplinary consensus paper [Internet]. Journal of pediatric urology. 2019 ; 15( 5): 585-585.Available from: http://observatorio.fm.usp.br/handle/OPI/34291
Artigo de periodico
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR (2019)
Nakaguma, Marilena; Correa, Fernanda A; Santana, Lucas S; Benedetti, Anna F. F; V, Ricardo Perez; Huayllas, Martha K. P; Miras, Mirta B; Funari, Mariana F. A; Lerario, Antonio M; Mendonça, Berenice Bilharinho de; Jorge, Alexander Augusto de Lima
Source: Endocrine connections. Unidade: FM
Subjects: HORMÔNIOS DA ADENO-HIPÓFISE, DOENÇAS CONGÊNITAS, SEQUENCIAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NAKAGUMA, Marilena; CORREA, Fernanda A; SANTANA, Lucas S; et al. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. Endocrine connections, Bristol, v. 8, n. 5, p. 590-595, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/32407 > DOI: 10.1530/EC-19-0085.
APA
Nakaguma, M., Correa, F. A., Santana, L. S., Benedetti, A. F. F., V, R. P., Huayllas, M. K. P., et al. (2019). Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. Endocrine connections, 8( 5), 590-595. doi:10.1530/EC-19-0085
NLM
Nakaguma M, Correa FA, Santana LS, Benedetti AFF, V RP, Huayllas MKP, Miras MB, Funari MFA, Lerario AM, Mendonça BB de, Jorge AA de L. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR [Internet]. Endocrine connections. 2019 ; 8( 5): 590-595.Available from: http://observatorio.fm.usp.br/handle/OPI/32407
Vancouver
Nakaguma M, Correa FA, Santana LS, Benedetti AFF, V RP, Huayllas MKP, Miras MB, Funari MFA, Lerario AM, Mendonça BB de, Jorge AA de L. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR [Internet]. Endocrine connections. 2019 ; 8( 5): 590-595.Available from: http://observatorio.fm.usp.br/handle/OPI/32407
Artigo de periodico
Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level Normalization (2019)
Rocha, Thais; Crespo, Raiane P; Yance, Viviane V. R; Hayashida, Sylvia A; Baracat, Edmund Chada ; Carvalho, Filomena Marino ; Domenice, Sorahia; Mendonça, Berenice Bilharinho de ; Gomes, Larissa G
Source: Journal of the endocrine society. Unidade: FM
Subjects: DOENÇAS METABÓLICAS, PÓS-MENOPAUSA, ANDRÓGENOS, TESTOSTERONA, OBESIDADE, HIPERTENSÃO, DIABETES MELLITUS NÃO INSULINO-DEPENDENTE, DISLIPIDEMIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROCHA, Thais; CRESPO, Raiane P; YANCE, Viviane V. R; et al. Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level Normalization. Journal of the endocrine society, Washington, v. 3, n. 5, p. 1087-1096, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/33129 > DOI: 10.1210/js.2018-00405.
APA
Rocha, T., Crespo, R. P., Yance, V. V. R., Hayashida, S. A., Baracat, E. C., Carvalho, F. M., et al. (2019). Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level Normalization. Journal of the endocrine society, 3( 5), 1087-1096. doi:10.1210/js.2018-00405
NLM
Rocha T, Crespo RP, Yance VVR, Hayashida SA, Baracat EC, Carvalho FM, Domenice S, Mendonça BB de, Gomes LG. Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level Normalization [Internet]. Journal of the endocrine society. 2019 ; 3( 5): 1087-1096.Available from: http://observatorio.fm.usp.br/handle/OPI/33129
Vancouver
Rocha T, Crespo RP, Yance VVR, Hayashida SA, Baracat EC, Carvalho FM, Domenice S, Mendonça BB de, Gomes LG. Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level Normalization [Internet]. Journal of the endocrine society. 2019 ; 3( 5): 1087-1096.Available from: http://observatorio.fm.usp.br/handle/OPI/33129
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GOMES, Nathalia L.; MENDONÇA, Berenice Bilharinho de. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. Clinical genetics, Hoboken, v. 95, n. 1, p. 172-176, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/29801 > DOI: 10.1111/cge.13459.
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.Available from: http://observatorio.fm.usp.br/handle/OPI/29801
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.Available from: http://observatorio.fm.usp.br/handle/OPI/29801
Artigo de periodico
Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency (2019)
Franca, Monica M; Han, Xingfa; Funari, Mariana F. A; Lerario, Antonio M; Nishi, Mirian Y; Fontenele, Eveline G. P; Domenice, Sorahia; Jorge, Alexander Augusto de Lima ; Garcia-galiano, David; Mendonça, Berenice Bilharinho de
Source: Journal of clinical endocrinology & metabolism. Unidade: FM
Subjects: ESTRESSE PROFISSIONAL, FREQUÊNCIA CARDÍACA, ELETROCARDIOGRAFIA, ESTUDOS DE COORTES, ESTUDOS LONGITUDINAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FRANCA, Monica M; HAN, Xingfa; FUNARI, Mariana F. A; et al. Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency. Journal of clinical endocrinology & metabolism, Washington, v. 104, n. 7, p. 2827-2841, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/32984 > DOI: 10.1210/jc.2018-02485.
APA
Franca, M. M., Han, X., Funari, M. F. A., Lerario, A. M., Nishi, M. Y., Fontenele, E. G. P., et al. (2019). Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency. Journal of clinical endocrinology & metabolism, 104( 7), 2827-2841. doi:10.1210/jc.2018-02485
NLM
Franca MM, Han X, Funari MFA, Lerario AM, Nishi MY, Fontenele EGP, Domenice S, Jorge AA de L, Garcia-galiano D, Mendonça BB de. Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency [Internet]. Journal of clinical endocrinology & metabolism. 2019 ; 104( 7): 2827-2841.Available from: http://observatorio.fm.usp.br/handle/OPI/32984
Vancouver
Franca MM, Han X, Funari MFA, Lerario AM, Nishi MY, Fontenele EGP, Domenice S, Jorge AA de L, Garcia-galiano D, Mendonça BB de. Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency [Internet]. Journal of clinical endocrinology & metabolism. 2019 ; 104( 7): 2827-2841.Available from: http://observatorio.fm.usp.br/handle/OPI/32984
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; BRONDANI, Vania Balderrama; HELENA, Vanessa Petry; 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, Oxford, v. 190, p. 250-255, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/33182 > DOI: 10.1016/j.jsbmb.2019.04.011.
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.Available from: http://observatorio.fm.usp.br/handle/OPI/33182
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.Available from: http://observatorio.fm.usp.br/handle/OPI/33182
Tese
Novas perspectivas no diagnóstico etiológico dos distúrbios do desenvolvimento sexual 46, XY (2019)
Gomes, Nathália Lisboa Rosa Almeida; Mendonça, Berenice Bilharinho de (Orientador)
Unidade: FM
Subjects: TRANSTORNOS DO DESENVOLVIMENTO SEXUAL, GONADAS, SEQUENCIAMENTO GENÉTICO, NUCLEOTÍDEOS, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GOMES, Nathália Lisboa Rosa Almeida; MENDONÇA, Berenice Bilharinho de. Novas perspectivas no diagnóstico etiológico dos distúrbios do desenvolvimento sexual 46, XY. 2019.Universidade de São Paulo, São Paulo, 2019. Disponível em: < http://www.teses.usp.br/teses/disponiveis/5/5166/tde-09012020-160107/ >.
APA
Gomes, N. L. R. A., & Mendonça, B. B. de. (2019). Novas perspectivas no diagnóstico etiológico dos distúrbios do desenvolvimento sexual 46, XY. Universidade de São Paulo, São Paulo. Recuperado de http://www.teses.usp.br/teses/disponiveis/5/5166/tde-09012020-160107/
NLM
Gomes NLRA, Mendonça BB de. Novas perspectivas no diagnóstico etiológico dos distúrbios do desenvolvimento sexual 46, XY [Internet]. 2019 ;Available from: http://www.teses.usp.br/teses/disponiveis/5/5166/tde-09012020-160107/
Vancouver
Gomes NLRA, Mendonça BB de. Novas perspectivas no diagnóstico etiológico dos distúrbios do desenvolvimento sexual 46, XY [Internet]. 2019 ;Available from: http://www.teses.usp.br/teses/disponiveis/5/5166/tde-09012020-160107/
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VILELA, Leticia A. P; RASSI-CRUZ, Marcela; GUIMARAES, Augusto G; et al. KCNJ5 somatic mutation is a predictor of hypertension remission after adrenalectomy for unilateral primary aldosteronism. Journal of clinical endocrinology & metabolism, Washington, v. 104, n. 10, p. 4695-4702, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/34098 > DOI: 10.1210/jc.2019-00531.
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.Available from: http://observatorio.fm.usp.br/handle/OPI/34098
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.Available from: http://observatorio.fm.usp.br/handle/OPI/34098
Artigo de periodico
IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children (2019)
Inoue-lima, Thais H; Vasques, Gabriela A; Scalco, Renata C; Nakaguma, Marilena; Mendonça, Berenice Bilharinho de; Arnhold, Ivo Jorge Prado; Jorge, Alexander Augusto de Lima
Source: Journal of pediatric endocrinology & metabolism. Unidade: FM
Subjects: HORMÔNIO DO CRESCIMENTO, FATOR DE CRESCIMENTO INSULIN-LIKE I, EPIDEMIOLOGIA, PUBERDADE, CRIANÇAS, ADOLESCENTES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
INOUE-LIMA, Thais H; VASQUES, Gabriela A; SCALCO, Renata C; et al. IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children. Journal of pediatric endocrinology & metabolism, Berlin, v. 32, n. 2, p. 173-179, 2019. Disponível em: < http://observatorio.fm.usp.br/handle/OPI/31094 > DOI: 10.1515/jpem-2018-0435.
APA
Inoue-lima, T. H., Vasques, G. A., Scalco, R. C., Nakaguma, M., Mendonça, B. B. de, Arnhold, I. J. P., & Jorge, A. A. de L. (2019). IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children. Journal of pediatric endocrinology & metabolism, 32( 2), 173-179. doi:10.1515/jpem-2018-0435
NLM
Inoue-lima TH, Vasques GA, Scalco RC, Nakaguma M, Mendonça BB de, Arnhold IJP, Jorge AA de L. IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children [Internet]. Journal of pediatric endocrinology & metabolism. 2019 ; 32( 2): 173-179.Available from: http://observatorio.fm.usp.br/handle/OPI/31094
Vancouver
Inoue-lima TH, Vasques GA, Scalco RC, Nakaguma M, Mendonça BB de, Arnhold IJP, Jorge AA de L. IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children [Internet]. Journal of pediatric endocrinology & metabolism. 2019 ; 32( 2): 173-179.Available from: http://observatorio.fm.usp.br/handle/OPI/31094
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FRANCA, M. M.; FUNARI, M. F. A.; NISHI, M. Y.; 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, Hoboken, v. 93, n. 2, p. 408-411, 2018. Disponível em: < http://dx.doi.org/10.1111/cge.13156 > DOI: 10.1111/cge.13156.
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.Available from: http://dx.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.Available from: http://dx.doi.org/10.1111/cge.13156
Artigo de periodico
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development (2018)
Sproll, Patrick; Eid, Wassim; Gomes, Camila R.; Mendonça, Berenice Bilharinho de; Gomes, Nathalia L.; Costa, Elaine M. -F.; Biason-Lauber, Anna
Source: Molecular genetics & genomic medicine. Unidade: FM
Subjects: MUTAÇÃO, CÓRTEX CEREBRAL, EXPRESSÃO GÊNICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SPROLL, Patrick; EID, Wassim; GOMES, Camila R.; et al. Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development. Molecular genetics & genomic medicine, Hoboken, v. 6, n. 5, p. 785-795, 2018. Disponível em: < http://dx.doi.org/10.1002/mgg3.445 > DOI: 10.1002/mgg3.445.
APA
Sproll, P., Eid, W., Gomes, C. R., Mendonça, B. B. de, Gomes, N. L., Costa, E. M. -F., & Biason-Lauber, A. (2018). Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development. Molecular genetics & genomic medicine, 6( 5), 785-795. doi:10.1002/mgg3.445
NLM
Sproll P, Eid W, Gomes CR, Mendonça BB de, Gomes NL, Costa EM-F, Biason-Lauber A. Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development [Internet]. Molecular genetics & genomic medicine. 2018 ; 6( 5): 785-795.Available from: http://dx.doi.org/10.1002/mgg3.445
Vancouver
Sproll P, Eid W, Gomes CR, Mendonça BB de, Gomes NL, Costa EM-F, Biason-Lauber A. Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development [Internet]. Molecular genetics & genomic medicine. 2018 ; 6( 5): 785-795.Available from: http://dx.doi.org/10.1002/mgg3.445
Artigo de periodico
An update of genetic basis of PCOS pathogenesis (2018)
Crespo, Raiane P.; Bachega, Tânia Aparecida Sartori Sanchez; Mendonça, Berenice Bilharinho de; Gomes, Larissa G.
Source: Archives of endocrinology metabolism. Unidade: FM
Subjects: SINAIS E SINTOMAS, SÍNDROME DO OVÁRIO POLICÍSTICO, INFERTILIDADE FEMININA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CRESPO, Raiane P.; BACHEGA, Tânia Aparecida Sartori Sanchez; MENDONÇA, Berenice Bilharinho de; GOMES, Larissa G. An update of genetic basis of PCOS pathogenesis. Archives of endocrinology metabolism, Rio De Janeiro, Rj, v. 62, n. 3, p. 352-361, 2018. Disponível em: < http://dx.doi.org/10.20945/2359-3997000000049 > DOI: 10.20945/2359-3997000000049.
APA
Crespo, R. P., Bachega, T. A. S. S., Mendonça, B. B. de, & Gomes, L. G. (2018). An update of genetic basis of PCOS pathogenesis. Archives of endocrinology metabolism, 62( 3), 352-361. doi:10.20945/2359-3997000000049
NLM
Crespo RP, Bachega TASS, Mendonça BB de, Gomes LG. An update of genetic basis of PCOS pathogenesis [Internet]. Archives of endocrinology metabolism. 2018 ; 62( 3): 352-361.Available from: http://dx.doi.org/10.20945/2359-3997000000049
Vancouver
Crespo RP, Bachega TASS, Mendonça BB de, Gomes LG. An update of genetic basis of PCOS pathogenesis [Internet]. Archives of endocrinology metabolism. 2018 ; 62( 3): 352-361.Available from: http://dx.doi.org/10.20945/2359-3997000000049
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CAVALCANTE, Isadora Pontes; NISHI, Mirian Yumie; ZERBINI, Maria Claudia Nogueira; et al. The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH). Molecular and cellular endocrinology, Shannon, v. 460, n. C, p. 36-46, 2018. Disponível em: < http://dx.doi.org/10.1016/j.mce.2017.06.027 > DOI: 10.1016/j.mce.2017.06.027.
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.Available from: http://dx.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.Available from: http://dx.doi.org/10.1016/j.mce.2017.06.027

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