Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region (2018)
- Authors:
- USP affiliated authors: MONTENEGRO, LUCIANA RIBEIRO - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM
- Unidade: FM
- DOI: 10.1159/000490059
- Subjects: DOENÇAS GENÉTICAS; PUBERDADE PRECOCE; MUTAÇÃO GENÉTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Neuroendocrinology
- ISSN: 0028-3835
- Volume/Número/Paginação/Ano: v. 107, n. 2, p. 127-132, 2018
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: green
-
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: 27 dez. 2025. -
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 2025 dez. 27 ] 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 2025 dez. 27 ] Available from: https://doi.org/10.1159/000490059 - 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
- 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
- Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line
- Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels
- Clinical and Genetic Characterization of Familial Central Precocious Puberty
- Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism
- Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome
Informações sobre o DOI: 10.1159/000490059 (Fonte: oaDOI API)
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