Paternally inherited DLK1 deletion as novel cause of familial central precocious puberty (2017)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM ; MONTENEGRO, LUCIANA RIBEIRO - FM
- Unidade: FM
- Subjects: PUBERDADE PRECOCE; MUTAÇÃO GENÉTICA; ANORMALIDADES CROMOSSÔMICAS
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Hormone research in paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 88, suppl.1, res. FC106, 2017
- Conference titles: Joint meeting of paediatric endocrinology
-
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: 19 abr. 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 abr. 19 ] -
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 abr. 19 ] - Loss-of-function mutations in a gene cause central precocius puberty
- Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region
- 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
- 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
- Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line
- Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome
- Update on the etiology, diagnosis and therapeutic management of sexual precocity
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas