High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic (2017)
- Authors:
- USP affiliated authors: MONTENEGRO, LUCIANA RIBEIRO - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM
- Unidade: FM
- DOI: 10.1159/000446963
- Subjects: MUTAÇÃO GENÉTICA; PUBERDADE PRECOCE; DOENÇAS HEREDITÁRIAS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Neuroendocrinology
- ISSN: 0028-3835
- Volume/Número/Paginação/Ano: v. 105, n. 1, p. 17-25, 2017
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: green
-
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: 11 maio 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 maio 11 ] 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 maio 11 ] Available from: https://doi.org/10.1159/000446963 - Loss-of-function mutations in a gene cause central precocius puberty
- Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region
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- 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
- Clinical and Genetic Characterization of Familial Central Precocious Puberty
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- Update on the etiology, diagnosis and therapeutic management of sexual precocity
Informações sobre o DOI: 10.1159/000446963 (Fonte: oaDOI API)
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