Clinical and Genetic Characterization of Familial Central Precocious Puberty (2023)
- Authors:
- USP affiliated authors: MONTENEGRO, LUCIANA RIBEIRO - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM
- Unidade: FM
- DOI: 10.1210/clinem/dgac763
- Subjects: MUTAÇÃO GENÉTICA; PUBERDADE PRECOCE; TRANSTORNOS GONADAIS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Washington
- Date published: 2023
- Source:
- Título: Journal of clinical endocrinology & metabolism
- ISSN: 0021-972X
- Volume/Número/Paginação/Ano: v. 108, n. 7, p. 1758-1767, 2023
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
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: 27 dez. 2025. -
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 2025 dez. 27 ] 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 2025 dez. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54565 - Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line
- Novel mutations (P.G6R and P.R511W) in IGF1R gene in children born small for gestational age (SGA) without catch-up growth
- Paternally inherited DLK1 deletion as novel cause of familial central precocious puberty
- High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic
- Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
- Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay
- Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty
- Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development
- Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination
- Loss-of-function mutations in a gene cause central precocius puberty
Informações sobre o DOI: 10.1210/clinem/dgac763 (Fonte: oaDOI API)
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