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Artigo de periodico
Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination (2023)
Magnotto, John C; Mancini, Alessandra; Bird, Keisha; Montenegro, Luciana; Tutunculer, Filiz; Pereira, Sidney A; Simas, Vitoria; Garcia, Leonardo; Roberts, Stephanie A; Xavier, Ana Claudia Latronico
Source: Journal of clinical endocrinology & metabolism. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, PUBERDADE PRECOCE, WESTERN BLOTTING, CRIANÇAS
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MAGNOTTO, John C et al. Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination. Journal of clinical endocrinology & metabolism, v. 108, n. 7, p. 1646-1656, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/54585. Acesso em: 07 out. 2024.
APA
Magnotto, J. C., Mancini, A., Bird, K., Montenegro, L., Tutunculer, F., Pereira, S. A., et al. (2023). Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination. Journal of clinical endocrinology & metabolism, 108( 7), 1646-1656. doi:10.1210/clinem/dgad151
NLM
Magnotto JC, Mancini A, Bird K, Montenegro L, Tutunculer F, Pereira SA, Simas V, Garcia L, Roberts SA, Xavier ACL. Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination [Internet]. Journal of clinical endocrinology & metabolism. 2023 ; 108( 7): 1646-1656.[citado 2024 out. 07 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54585
Vancouver
Magnotto JC, Mancini A, Bird K, Montenegro L, Tutunculer F, Pereira SA, Simas V, Garcia L, Roberts SA, Xavier ACL. Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination [Internet]. Journal of clinical endocrinology & metabolism. 2023 ; 108( 7): 1646-1656.[citado 2024 out. 07 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54585
Artigo de periodico
Clinical and Genetic Characterization of Familial Central Precocious Puberty (2023)
Tinano, Flavia Rezende; Canton, Ana Pinheiro Machado; Montenegro, Luciana Ribeiro; Leal, Andrea de Castro; Faria, Aline G; Seraphim, Carlos E; Brauner, Raja; Jorge, Alexander Augusto de Lima ; Mendonca, Berenice Bilharinho de ; Xavier, Ana Claudia Latronico
Source: Journal of clinical endocrinology & metabolism. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, PUBERDADE PRECOCE, TRANSTORNOS GONADAIS
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TINANO, Flavia Rezende et al. Clinical and Genetic Characterization of Familial Central Precocious Puberty. Journal of clinical endocrinology & metabolism, v. 108, n. 7, p. 1758-1767, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/54565. Acesso em: 07 out. 2024.
APA
Tinano, F. R., Canton, A. P. M., Montenegro, L. R., Leal, A. de C., Faria, A. G., Seraphim, C. E., et al. (2023). Clinical and Genetic Characterization of Familial Central Precocious Puberty. Journal of clinical endocrinology & metabolism, 108( 7), 1758-1767. doi:10.1210/clinem/dgac763
NLM
Tinano FR, Canton APM, Montenegro LR, Leal A de C, Faria AG, Seraphim CE, Brauner R, Jorge AA de L, Mendonca BB de, Xavier ACL. Clinical and Genetic Characterization of Familial Central Precocious Puberty [Internet]. Journal of clinical endocrinology & metabolism. 2023 ; 108( 7): 1758-1767.[citado 2024 out. 07 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54565
Vancouver
Tinano FR, Canton APM, Montenegro LR, Leal A de C, Faria AG, Seraphim CE, Brauner R, Jorge AA de L, Mendonca BB de, Xavier ACL. Clinical and Genetic Characterization of Familial Central Precocious Puberty [Internet]. Journal of clinical endocrinology & metabolism. 2023 ; 108( 7): 1758-1767.[citado 2024 out. 07 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54565
Artigo de periodico
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development (2022)
Gomes, Nathalia Lisboa; Batista, Rafael Loch; Nishi, Mirian Y.; Lerario, Antonio Marcondes; Silva, Thatiana E.; Narcizo, Amanda de Moraes; Benedetti, Anna Flavia Figueredo; Funari, Mariana Ferreira de Assis; Faria Junior, Jose Antonio; Moraes, Daniela Rodrigues; Montenegro, Luciana Ribeiro; Jorge, Alexander Augusto de Lima ; Mendonca, Berenice Bilharinho de
Source: Journal of clinical endocrinology & metabolism. Unidade: FM
Subjects: CRIANÇAS, SINAIS E SINTOMAS, DOENÇAS GENÉTICAS, DIAGNÓSTICO POR IMAGEM
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GOMES, Nathalia Lisboa et al. Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development. Journal of clinical endocrinology & metabolism, v. 107, n. 5, p. E1797-E1806, 2022Tradução . . Disponível em: https://doi.org/10.1210/clinem/dgac064. Acesso em: 07 out. 2024.
APA
Gomes, N. L., Batista, R. L., Nishi, M. Y., Lerario, A. M., Silva, T. E., Narcizo, A. de M., et al. (2022). Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development. Journal of clinical endocrinology & metabolism, 107( 5), E1797-E1806. doi:10.1210/clinem/dgac064
NLM
Gomes NL, Batista RL, Nishi MY, Lerario AM, Silva TE, Narcizo A de M, Benedetti AFF, Funari MF de A, Faria Junior JA, Moraes DR, Montenegro LR, Jorge AA de L, Mendonca BB de. Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development [Internet]. Journal of clinical endocrinology & metabolism. 2022 ; 107( 5): E1797-E1806.[citado 2024 out. 07 ] Available from: https://doi.org/10.1210/clinem/dgac064
Vancouver
Gomes NL, Batista RL, Nishi MY, Lerario AM, Silva TE, Narcizo A de M, Benedetti AFF, Funari MF de A, Faria Junior JA, Moraes DR, Montenegro LR, Jorge AA de L, Mendonca BB de. Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development [Internet]. Journal of clinical endocrinology & metabolism. 2022 ; 107( 5): E1797-E1806.[citado 2024 out. 07 ] Available from: https://doi.org/10.1210/clinem/dgac064
Artigo de periodico
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies (2021)
Canton, Ana Pinheiro Machado ; Krepischi, Ana Cristina Victorino ; Montenegro, Luciana Ribeiro; Costa, Silvia; Rosenberg, Carla ; Steunou, Virginie; Sobrier, Marie-Laure; Santana, Lucas ; Honjo, Rachel Sayuri ; Kim, Chong Ae ; Francis de Zegher; Idkowiak, Jan; Gilligan, Lorna C; Arlt, Wiebke; Funari, Mariana Ferreira de Assis ; Jorge, Alexander Augusto de Lima ; Mendonca, Berenice Bilharinho de ; Netchine, Irène; Brito, Vinicius Nahime ; Latronico, Ana Claudia
Source: Human Reproduction. Unidades: IB, FM
Subjects: PUBERDADE PRECOCE, GENÉTICA, DOENÇAS GENÉTICAS, ANORMALIDADES CROMOSSÔMICAS
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CANTON, Ana Pinheiro Machado et al. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Human Reproduction, v. 36, n. 2, p. 506-518, 2021Tradução . . Disponível em: https://doi.org/10.1093/humrep/deaa306. Acesso em: 07 out. 2024.
APA
Canton, A. P. M., Krepischi, A. C. V., Montenegro, L. R., Costa, S., Rosenberg, C., Steunou, V., et al. (2021). Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Human Reproduction, 36( 2), 506-518. doi:10.1093/humrep/deaa306
NLM
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier M-L, Santana L, Honjo RS, Kim CA, Francis de Zegher, Idkowiak J, Gilligan LC, Arlt W, Funari MF de A, Jorge AA de L, Mendonca BB de, Netchine I, Brito VN, Latronico AC. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies [Internet]. Human Reproduction. 2021 ; 36( 2): 506-518.[citado 2024 out. 07 ] Available from: https://doi.org/10.1093/humrep/deaa306
Vancouver
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier M-L, Santana L, Honjo RS, Kim CA, Francis de Zegher, Idkowiak J, Gilligan LC, Arlt W, Funari MF de A, Jorge AA de L, Mendonca BB de, Netchine I, Brito VN, Latronico AC. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies [Internet]. Human Reproduction. 2021 ; 36( 2): 506-518.[citado 2024 out. 07 ] Available from: https://doi.org/10.1093/humrep/deaa306
Artigo de periodico
Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters (2020)
Kim, Vera; Wal, Thijs van der; Nishi, Miriam Yumie; Montenegro, Luciana Ribeiro; Carrilho, Flair Jose ; Hoshida, Yujin; Ono, Suzane Kioko
Source: Pharmacogenomics. Unidade: FM
Subjects: ENVELHECIMENTO, ESTUDOS DE COORTES, FARMACOGENÉTICA, FARMACOCINÉTICA, POLIMORFISMO
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KIM, Vera et al. Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters. Pharmacogenomics, v. 21, n. 9, p. 575-586, 2020Tradução . . Disponível em: https://doi.org/10.2217/pgs-2020-0013. Acesso em: 07 out. 2024.
APA
Kim, V., Wal, T. van der, Nishi, M. Y., Montenegro, L. R., Carrilho, F. J., Hoshida, Y., & Ono, S. K. (2020). Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters. Pharmacogenomics, 21( 9), 575-586. doi:10.2217/pgs-2020-0013
NLM
Kim V, Wal T van der, Nishi MY, Montenegro LR, Carrilho FJ, Hoshida Y, Ono SK. Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters [Internet]. Pharmacogenomics. 2020 ; 21( 9): 575-586.[citado 2024 out. 07 ] Available from: https://doi.org/10.2217/pgs-2020-0013
Vancouver
Kim V, Wal T van der, Nishi MY, Montenegro LR, Carrilho FJ, Hoshida Y, Ono SK. Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters [Internet]. Pharmacogenomics. 2020 ; 21( 9): 575-586.[citado 2024 out. 07 ] Available from: https://doi.org/10.2217/pgs-2020-0013
Artigo de periodico
Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD (2020)
Granadillo, Jorge Luis; Stegmann, Alexander P.A; Guo, Hui; Xia, Kun; Angle, Brad; Bontempo, Kelly; Ranells, Judith D; Newkirk, Patricia; Xavier, Ana Claudia Latronico ; Montenegro, Luciana Ribeiro
Source: Journal of medical genetics. Unidade: FM
Subjects: TRANSTORNO DO DEFICIT DE ATENÇÃO COM HIPERATIVIDADE, TRANSTORNO AUTÍSTICO, PREDISPOSIÇÃO GENÉTICA PARA DOENÇA, FENÓTIPOS, PESSOAS COM DEFICIÊNCIA INTELECTUAL
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GRANADILLO, Jorge Luis et al. Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. Journal of medical genetics, v. 57, n. 10, p. 717-724, 2020Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2019-106470. Acesso em: 07 out. 2024.
APA
Granadillo, J. L., Stegmann, A. P. A., Guo, H., Xia, K., Angle, B., Bontempo, K., et al. (2020). Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. Journal of medical genetics, 57( 10), 717-724. doi:10.1136/jmedgenet-2019-106470
NLM
Granadillo JL, Stegmann APA, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Xavier ACL, Montenegro LR. Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD [Internet]. Journal of medical genetics. 2020 ; 57( 10): 717-724.[citado 2024 out. 07 ] Available from: https://doi.org/10.1136/jmedgenet-2019-106470
Vancouver
Granadillo JL, Stegmann APA, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Xavier ACL, Montenegro LR. Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD [Internet]. Journal of medical genetics. 2020 ; 57( 10): 717-724.[citado 2024 out. 07 ] Available from: https://doi.org/10.1136/jmedgenet-2019-106470
Artigo de periodico
SELAdb: a database of exonic variants in a Brazilian population referred to a quaternary medical center in Sao Paulo (2020)
Lerario, Antonio Marcondes; Mohan, Dipika R; Montenegro, Luciana Ribeiro; Funari, Mariana Ferreira de Assis; Nishi, Mirian Yumie; Narcizo, Amanda de Moraes; Shinjo, Sueli Mieko Oba ; Jorge, Alexander Augusto de Lima ; Onuchic, Luiz Fernando ; Marie, Suely Kazue Nagahashi ; Mendonca, Berenice Bilharinho de
Source: Clinics. Unidade: FM
Subjects: ESTUDOS DE COORTES, BANCO DE DADOS, GENÔMICA, BRASIL
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LERARIO, Antonio Marcondes et al. SELAdb: a database of exonic variants in a Brazilian population referred to a quaternary medical center in Sao Paulo. Clinics, v. 75, 2020Tradução . . Disponível em: https://doi.org/10.6061/clinics/2020/e1913. Acesso em: 07 out. 2024.
APA
Lerario, A. M., Mohan, D. R., Montenegro, L. R., Funari, M. F. de A., Nishi, M. Y., Narcizo, A. de M., et al. (2020). SELAdb: a database of exonic variants in a Brazilian population referred to a quaternary medical center in Sao Paulo. Clinics, 75. doi:10.6061/clinics/2020/e1913
NLM
Lerario AM, Mohan DR, Montenegro LR, Funari MF de A, Nishi MY, Narcizo A de M, Shinjo SMO, Jorge AA de L, Onuchic LF, Marie SKN, Mendonca BB de. SELAdb: a database of exonic variants in a Brazilian population referred to a quaternary medical center in Sao Paulo [Internet]. Clinics. 2020 ; 75[citado 2024 out. 07 ] Available from: https://doi.org/10.6061/clinics/2020/e1913
Vancouver
Lerario AM, Mohan DR, Montenegro LR, Funari MF de A, Nishi MY, Narcizo A de M, Shinjo SMO, Jorge AA de L, Onuchic LF, Marie SKN, Mendonca BB de. SELAdb: a database of exonic variants in a Brazilian population referred to a quaternary medical center in Sao Paulo [Internet]. Clinics. 2020 ; 75[citado 2024 out. 07 ] Available from: https://doi.org/10.6061/clinics/2020/e1913
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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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: 07 out. 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 out. 07 ] 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 out. 07 ] Available from: https://doi.org/10.1210/jc.2018-02010
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
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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: 07 out. 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 out. 07 ] 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 out. 07 ] 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
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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: 07 out. 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 out. 07 ]
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 out. 07 ]
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
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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: 07 out. 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 out. 07 ] 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 out. 07 ] Available from: https://doi.org/10.1159/000446963
Artigo de periodico
A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reducd GH1 expression in siblings with isolated GH deficiency (IGHD) (2016)
Madeira, João L. O.; Jorge, Alexander Augusto de Lima; Martin, Regina M; Montenegro, Luciana Ribeiro; Franca, Marcela M.; Costalong, Everlayny F.; Correa, Fernanda A.; Otto, Aline P.; Arnhold, Ivo J. P; Freitas, Helayne S; Machado, Ubiratan Fabres ; Mendonça, Berenice Bilharinho de; Carvalho, Luciani R
Source: European journal of endocrinology. Unidades: FM, ICB
Subjects: GRAVIDEZ DE GÊMEOS, HORMÔNIO DO CRESCIMENTO, EXPRESSÃO GÊNICA
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ABNT
MADEIRA, João L. O. et al. A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reducd GH1 expression in siblings with isolated GH deficiency (IGHD). European journal of endocrinology, v. 175, n. 02, p. K7-K15, 2016Tradução . . Disponível em: https://doi.org/10.1530/eje-15-0149. Acesso em: 07 out. 2024.
APA
Madeira, J. L. O., Jorge, A. A. de L., Martin, R. M., Montenegro, L. R., Franca, M. M., Costalong, E. F., et al. (2016). A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reducd GH1 expression in siblings with isolated GH deficiency (IGHD). European journal of endocrinology, 175( 02), K7-K15. doi:10.1530/eje-15-0149
NLM
Madeira JLO, Jorge AA de L, Martin RM, Montenegro LR, Franca MM, Costalong EF, Correa FA, Otto AP, Arnhold IJP, Freitas HS, Machado UF, Mendonça BB de, Carvalho LR. A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reducd GH1 expression in siblings with isolated GH deficiency (IGHD) [Internet]. European journal of endocrinology. 2016 ; 175( 02): K7-K15.[citado 2024 out. 07 ] Available from: https://doi.org/10.1530/eje-15-0149
Vancouver
Madeira JLO, Jorge AA de L, Martin RM, Montenegro LR, Franca MM, Costalong EF, Correa FA, Otto AP, Arnhold IJP, Freitas HS, Machado UF, Mendonça BB de, Carvalho LR. A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reducd GH1 expression in siblings with isolated GH deficiency (IGHD) [Internet]. European journal of endocrinology. 2016 ; 175( 02): K7-K15.[citado 2024 out. 07 ] Available from: https://doi.org/10.1530/eje-15-0149
Artigo de periodico
Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3 (2014)
Macedo, Delanie B.; Abreu, Ana Paula; Reis, Ana Claudia S.; Montenegro, Luciana R.; Dauber, Andrew; Beneduzzi, Daiane; Cukier, Priscilla; Silveira, Leticia F. G.; Teles, Milena G.; Carroll, Rona S.; Guerra Junior, Gil; Guaragna Filho, Guilherme; Gucev, Zoran; Arnhold, Ivo J. P.; Castro, Margaret de; Moreira, Ayrton C.; Martinelli Jr., Carlos Eduardo; Hirschhorn, Joel N.; Mendonca, Berenice B.; Brito, Vinicius N.; Antonini, Sonir R.; Kaiser, Ursula B.; Latronico, Ana Claudia
Source: Journal of Clinical Endocrinology and Metabolism. Unidades: FM, FMRP
Subjects: CRIANÇAS, TÉCNICAS GENÉTICAS, PUBERDADE PRECOCE, MUTAÇÃO GENÉTICA
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ABNT
MACEDO, Delanie B. et al. Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3. Journal of Clinical Endocrinology and Metabolism, v. 99, n. 6, p. E1097-E1103, 2014Tradução . . Disponível em: https://doi.org/10.1210/jc.2013-3126. Acesso em: 07 out. 2024.
APA
Macedo, D. B., Abreu, A. P., Reis, A. C. S., Montenegro, L. R., Dauber, A., Beneduzzi, D., et al. (2014). Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3. Journal of Clinical Endocrinology and Metabolism, 99( 6), E1097-E1103. doi:10.1210/jc.2013-3126
NLM
Macedo DB, Abreu AP, Reis ACS, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LFG, Teles MG, Carroll RS, Guerra Junior G, Guaragna Filho G, Gucev Z, Arnhold IJP, Castro M de, Moreira AC, Martinelli Jr. CE, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3 [Internet]. Journal of Clinical Endocrinology and Metabolism. 2014 ; 99( 6): E1097-E1103.[citado 2024 out. 07 ] Available from: https://doi.org/10.1210/jc.2013-3126
Vancouver
Macedo DB, Abreu AP, Reis ACS, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LFG, Teles MG, Carroll RS, Guerra Junior G, Guaragna Filho G, Gucev Z, Arnhold IJP, Castro M de, Moreira AC, Martinelli Jr. CE, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3 [Internet]. Journal of Clinical Endocrinology and Metabolism. 2014 ; 99( 6): E1097-E1103.[citado 2024 out. 07 ] Available from: https://doi.org/10.1210/jc.2013-3126
Artigo de periodico
Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome (2013)
Montenegro, Luciana Ribeiro; Silveira, Leticia F. G.; Tusset, Cintia; Castro, Margaret de; Versiani, Beatriz R.; Latronico, Ana Claudia; Mendonca, Berenice Bilharinho; Trarbach, Ericka B.
Source: Fertility and Sterility. Unidades: FM, FMRP
Subjects: SEQUENCIAMENTO GENÉTICO, AMPLIFICAÇÃO DE GENES, GENÓTIPOS, HIPOGONADISMO (GENÉTICA), DELEÇÃO DE GENES, BIOLOGIA MOLECULAR, REAÇÃO EM CADEIA POR POLIMERASE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MONTENEGRO, Luciana Ribeiro et al. Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome. Fertility and Sterility, v. 100, n. 3, p. 854-859, 2013Tradução . . Disponível em: https://doi.org/10.1016/j.fertnstert.2013.04.045. Acesso em: 07 out. 2024.
APA
Montenegro, L. R., Silveira, L. F. G., Tusset, C., Castro, M. de, Versiani, B. R., Latronico, A. C., et al. (2013). Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome. Fertility and Sterility, 100( 3), 854-859. doi:10.1016/j.fertnstert.2013.04.045
NLM
Montenegro LR, Silveira LFG, Tusset C, Castro M de, Versiani BR, Latronico AC, Mendonca BB, Trarbach EB. Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome [Internet]. Fertility and Sterility. 2013 ;100( 3): 854-859.[citado 2024 out. 07 ] Available from: https://doi.org/10.1016/j.fertnstert.2013.04.045
Vancouver
Montenegro LR, Silveira LFG, Tusset C, Castro M de, Versiani BR, Latronico AC, Mendonca BB, Trarbach EB. Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome [Internet]. Fertility and Sterility. 2013 ;100( 3): 854-859.[citado 2024 out. 07 ] Available from: https://doi.org/10.1016/j.fertnstert.2013.04.045
Trabalho de evento-resumo periodico
Loss-of-function mutations in a gene cause central precocius puberty (2013)
Abreu, Ana Paula; Dauber, Andrew; Macedo, Delaine Bulcão; Noel, Sekoni D.; Brito, Vinicius Nahime; Gill, John C.; Cukier, Priscilla; Thompson, Ian; Navarro, Victor M.; Gagliardi, Priscila C.; Rodrigues, Tânia M.; Kochi, Cristiane; Longui, Carlos A.; Beckers, Dominique; Zegher, Francis de; Montenegro, Luciana R.; Mendonça, Berenice Bilharinho de; Carroll, Rona S.; Hirschhorn, Joel N.; Xavier, Ana Claudia Latronico; Kaiser, Ursula B.
Source: Hormone Research in Paediatrics. Conference titles: European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting. Unidade: FM
Subjects: PUBERDADE PRECOCE, TRANSTORNOS DO CRESCIMENTO, ENDOCRINOPATIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ABREU, Ana Paula et al. Loss-of-function mutations in a gene cause central precocius puberty. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 07 out. 2024. , 2013
APA
Abreu, A. P., Dauber, A., Macedo, D. B., Noel, S. D., Brito, V. N., Gill, J. C., et al. (2013). Loss-of-function mutations in a gene cause central precocius puberty. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo.
NLM
Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson I, Navarro VM, Gagliardi PC, Rodrigues TM, Kochi C, Longui CA, Beckers D, Zegher F de, Montenegro LR, Mendonça BB de, Carroll RS, Hirschhorn JN, Xavier ACL, Kaiser UB. Loss-of-function mutations in a gene cause central precocius puberty. Hormone Research in Paediatrics. 2013 ; 80 35.[citado 2024 out. 07 ]
Vancouver
Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson I, Navarro VM, Gagliardi PC, Rodrigues TM, Kochi C, Longui CA, Beckers D, Zegher F de, Montenegro LR, Mendonça BB de, Carroll RS, Hirschhorn JN, Xavier ACL, Kaiser UB. Loss-of-function mutations in a gene cause central precocius puberty. Hormone Research in Paediatrics. 2013 ; 80 35.[citado 2024 out. 07 ]
Trabalho de evento-resumo periodico
Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism (2013)
Montenegro, Luciana R.; Freitas, Marcela R.; Trabarch, Ericka B.; Kok, Fernando; Xavier, Ana Claudia Latronico; Silveira,Leticia G.
Source: Hormone Research in Paediatrics. Conference titles: European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting. Unidade: FM
Subjects: TRANSTORNOS GONADAIS, ENDOCRINOPATIAS, HIPODONTIA, HIPOGONADISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MONTENEGRO, Luciana R. et al. Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 07 out. 2024. , 2013
APA
Montenegro, L. R., Freitas, M. R., Trabarch, E. B., Kok, F., Xavier, A. C. L., & Silveira, L. G. (2013). Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo.
NLM
Montenegro LR, Freitas MR, Trabarch EB, Kok F, Xavier ACL, Silveira LG. Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. 2013 ; 80 35.[citado 2024 out. 07 ]
Vancouver
Montenegro LR, Freitas MR, Trabarch EB, Kok F, Xavier ACL, Silveira LG. Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. 2013 ; 80 35.[citado 2024 out. 07 ]
Artigo de periodico
The interactive effect of GHR-Exon 3 and −202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner Syndrome (2012)
Braz, Adriana F.; Costalonga, Everlayny F.; Montenegro, Luciana Ribeiro; Trarbach, Ericka B.; Antonini, Sonir Roberto Rauber; Malaquias, Alexsandra C.; Ramos, Ester Silveira; Mendonca, Berenice Bilharinho.; Arnhold, Ivo J. P.; Jorge, Alexander Augusto de Lima
Source: The journal of clinical endocrinology & metabolism. Unidades: FM, FMRP
Subjects: POLIMORFISMO, ENDOCRINOPATIAS (GENÉTICA;TERAPIA), ALELOPATIA (GENÉTICA), FATORES DE CRESCIMENTO (PATOLOGIA), GENÓTIPOS (ANÁLISE), PROTOCOLOS CLÍNICOS, BIOLOGIA MOLECULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BRAZ, Adriana F. et al. The interactive effect of GHR-Exon 3 and −202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner Syndrome. The journal of clinical endocrinology & metabolism, v. 97, n. 4, p. E671-E677, 2012Tradução . . Disponível em: https://doi.org/10.1210/jc.2011-2521. Acesso em: 07 out. 2024.
APA
Braz, A. F., Costalonga, E. F., Montenegro, L. R., Trarbach, E. B., Antonini, S. R. R., Malaquias, A. C., et al. (2012). The interactive effect of GHR-Exon 3 and −202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner Syndrome. The journal of clinical endocrinology & metabolism, 97( 4), E671-E677. doi:10.1210/jc.2011-2521
NLM
Braz AF, Costalonga EF, Montenegro LR, Trarbach EB, Antonini SRR, Malaquias AC, Ramos ES, Mendonca BB, Arnhold IJP, Jorge AA de L. The interactive effect of GHR-Exon 3 and −202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner Syndrome [Internet]. The journal of clinical endocrinology & metabolism. 2012 ; 97( 4): E671-E677.[citado 2024 out. 07 ] Available from: https://doi.org/10.1210/jc.2011-2521
Vancouver
Braz AF, Costalonga EF, Montenegro LR, Trarbach EB, Antonini SRR, Malaquias AC, Ramos ES, Mendonca BB, Arnhold IJP, Jorge AA de L. The interactive effect of GHR-Exon 3 and −202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner Syndrome [Internet]. The journal of clinical endocrinology & metabolism. 2012 ; 97( 4): E671-E677.[citado 2024 out. 07 ] Available from: https://doi.org/10.1210/jc.2011-2521
Artigo de periodico
Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line (2012)
Ribeiro, Tamaya C.; Montenegro, Luciana; Jorge, Alexander A.; Nishi, Miriam Y.; Latronico, Ana C.; Mendonca, Berenice B.
Source: Endocrine Reviews. Conference titles: ENDO 2012: The Endocrine Society's 94th Annual Meeting & Expo. Unidade: FM
Subjects: EXPRESSÃO GÊNICA, NEOPLASIAS DAS GLÂNDULAS SUPRARRENAIS, REAÇÃO EM CADEIA POR POLIMERASE, WESTERN BLOTTING, RESUMOS (EVENTOS)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RIBEIRO, Tamaya C. et al. Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line. Endocrine Reviews, v. 33, 2012Tradução . . Disponível em: http://edrv.endojournals.org/cgi/content/meeting_abstract/33/03_MeetingAbstracts/SUN-496. Acesso em: 07 out. 2024.
APA
Ribeiro, T. C., Montenegro, L., Jorge, A. A., Nishi, M. Y., Latronico, A. C., & Mendonca, B. B. (2012). Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line. Endocrine Reviews, 33. Recuperado de http://edrv.endojournals.org/cgi/content/meeting_abstract/33/03_MeetingAbstracts/SUN-496
NLM
Ribeiro TC, Montenegro L, Jorge AA, Nishi MY, Latronico AC, Mendonca BB. Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line [Internet]. Endocrine Reviews. 2012 ; 33[citado 2024 out. 07 ] Available from: http://edrv.endojournals.org/cgi/content/meeting_abstract/33/03_MeetingAbstracts/SUN-496
Vancouver
Ribeiro TC, Montenegro L, Jorge AA, Nishi MY, Latronico AC, Mendonca BB. Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line [Internet]. Endocrine Reviews. 2012 ; 33[citado 2024 out. 07 ] Available from: http://edrv.endojournals.org/cgi/content/meeting_abstract/33/03_MeetingAbstracts/SUN-496
Artigo de periodico
Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11 (2012)
Montenegro, Luciana R.; Leal, Andrea C.; Coutinho, Debora C.; Valassi, Helena P. L.; Nishi, Mirian Y.; Arnhold, Ivo J. P.; Mendonca, Berenice B.; Jorge, Alexander A. L.
Source: European Journal of Endocrinology. Unidade: FM
Subjects: METABOLISMO (QUÍMICA), PROLIFERAÇÃO CELULAR, CULTURA DE CÉLULAS, FENÓTIPOS, REAÇÃO EM CADEIA POR POLIMERASE, ANORMALIDADES MUSCULOSQUELÉTICAS (GENÉTICA), BIOQUÍMICA CLÍNICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MONTENEGRO, Luciana R. et al. Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11. European Journal of Endocrinology, v. 166, n. 3, p. 543-550, 2012Tradução . . Disponível em: https://doi.org/10.1530/EJE-11-0964. Acesso em: 07 out. 2024.
APA
Montenegro, L. R., Leal, A. C., Coutinho, D. C., Valassi, H. P. L., Nishi, M. Y., Arnhold, I. J. P., et al. (2012). Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11. European Journal of Endocrinology, 166( 3), 543-550. doi:10.1530/EJE-11-0964
NLM
Montenegro LR, Leal AC, Coutinho DC, Valassi HPL, Nishi MY, Arnhold IJP, Mendonca BB, Jorge AAL. Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11 [Internet]. European Journal of Endocrinology. 2012 ; 166( 3): 543-550.[citado 2024 out. 07 ] Available from: https://doi.org/10.1530/EJE-11-0964
Vancouver
Montenegro LR, Leal AC, Coutinho DC, Valassi HPL, Nishi MY, Arnhold IJP, Mendonca BB, Jorge AAL. Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11 [Internet]. European Journal of Endocrinology. 2012 ; 166( 3): 543-550.[citado 2024 out. 07 ] Available from: https://doi.org/10.1530/EJE-11-0964
Trabalho de evento-resumo periodico
Congenital isolated hypogonadotropic hypogonadism: a detailed clinical and molecular characterization of a Brazilian patient cohort (2011)
Silveira, Letícia F. G.; Teles, Milena G.; Abreu, Ana P.; Montenegro, Luciana Ribeiro; Tusset, Cíntia; Beneduzzi, Daiane; Castro, Margaret de; Costa, Elaine M. F.; Lofrano-Porto, Adriana; Baptista, Maria T. M.; Garmes, Heraldo M.; Guerra-Júnior, Gil; Mendonça, Berenice Bilharinho de; Latronico, Ana C.; Trarbach, Ericka B.
Source: Endocrine Reviews. Conference titles: International Pituitary Congress. Unidades: FMRP, FM
Assunto: ENDOCRINOLOGIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SILVEIRA, Letícia F. G. et al. Congenital isolated hypogonadotropic hypogonadism: a detailed clinical and molecular characterization of a Brazilian patient cohort. Endocrine Reviews. Chevy Chase: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. . Acesso em: 07 out. 2024. , 2011
APA
Silveira, L. F. G., Teles, M. G., Abreu, A. P., Montenegro, L. R., Tusset, C., Beneduzzi, D., et al. (2011). Congenital isolated hypogonadotropic hypogonadism: a detailed clinical and molecular characterization of a Brazilian patient cohort. Endocrine Reviews. Chevy Chase: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo.
NLM
Silveira LFG, Teles MG, Abreu AP, Montenegro LR, Tusset C, Beneduzzi D, Castro M de, Costa EMF, Lofrano-Porto A, Baptista MTM, Garmes HM, Guerra-Júnior G, Mendonça BB de, Latronico AC, Trarbach EB. Congenital isolated hypogonadotropic hypogonadism: a detailed clinical and molecular characterization of a Brazilian patient cohort. Endocrine Reviews. 2011 ; 32[citado 2024 out. 07 ]
Vancouver
Silveira LFG, Teles MG, Abreu AP, Montenegro LR, Tusset C, Beneduzzi D, Castro M de, Costa EMF, Lofrano-Porto A, Baptista MTM, Garmes HM, Guerra-Júnior G, Mendonça BB de, Latronico AC, Trarbach EB. Congenital isolated hypogonadotropic hypogonadism: a detailed clinical and molecular characterization of a Brazilian patient cohort. Endocrine Reviews. 2011 ; 32[citado 2024 out. 07 ]

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