Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels (2023)
- Authors:
- USP affiliated authors: MONTENEGRO, LUCIANA RIBEIRO - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM
- Unidade: FM
- DOI: 10.1093/ejendo/lvad129
- Subjects: PUBERDADE PRECOCE; DOENÇAS HEREDITÁRIAS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: European journal of endocrinology
- ISSN: 0804-4643
- Volume/Número/Paginação/Ano: v. 189, n. 3, p. 422-428, 2023
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: green
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ABNT
MONTENEGRO, Luciana Ribeiro et al. Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels. European journal of endocrinology, v. 189, n. 3, p. 422-428, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/57332. Acesso em: 27 dez. 2025. -
APA
Montenegro, L. R., Seraphim, C., Tinano, F., Piovesan, M., Canton, A. P. M., Mcelreavey, K., et al. (2023). Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels. European journal of endocrinology, 189( 3), 422-428. doi:10.1093/ejendo/lvad129 -
NLM
Montenegro LR, Seraphim C, Tinano F, Piovesan M, Canton APM, Mcelreavey K, Brabant S, Boris NP, Magnuson M, Xavier ACL. Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels [Internet]. European journal of endocrinology. 2023 ; 189( 3): 422-428.[citado 2025 dez. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57332 -
Vancouver
Montenegro LR, Seraphim C, Tinano F, Piovesan M, Canton APM, Mcelreavey K, Brabant S, Boris NP, Magnuson M, Xavier ACL. Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels [Internet]. European journal of endocrinology. 2023 ; 189( 3): 422-428.[citado 2025 dez. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57332 - Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
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- Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism
- 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
- Loss-of-function mutations in a gene cause central precocius puberty
- Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region
- Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line
- Clinical and Genetic Characterization of Familial Central Precocious Puberty
- Estudo in vitro da sensibilidade ao IGF-1 de fibroblastos de crianças nascidas pequenas para a idade gestacional sem recuperação estatural pós-natal
Informações sobre o DOI: 10.1093/ejendo/lvad129 (Fonte: oaDOI API)
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