Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism (2013)
- Authors:
- USP affiliated authors: XAVIER, ANA CLAUDIA LATRÔNICO - FM ; MONTENEGRO, LUCIANA RIBEIRO - FM
- Unidade: FM
- Subjects: TRANSTORNOS GONADAIS; ENDOCRINOPATIAS; HIPODONTIA; HIPOGONADISMO
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 80, suppl. 1, p. 35, res. FC4-142, 2013
- Conference titles: European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting
-
ABNT
MONTENEGRO, Luciana R. et al. Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 24 abr. 2024. , 2013 -
APA
Montenegro, L. R., Freitas, M. R., Trabarch, E. B., Kok, F., Xavier, A. C. L., & Silveira, L. G. (2013). Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Montenegro LR, Freitas MR, Trabarch EB, Kok F, Xavier ACL, Silveira LG. Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. 2013 ; 80 35.[citado 2024 abr. 24 ] -
Vancouver
Montenegro LR, Freitas MR, Trabarch EB, Kok F, Xavier ACL, Silveira LG. Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. 2013 ; 80 35.[citado 2024 abr. 24 ] - 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
- 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
- Clinical and Genetic Characterization of Familial Central Precocious Puberty
- Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line
- Estudo in vitro da sensibilidade ao IGF-1 de fibroblastos de crianças nascidas pequenas para a idade gestacional sem recuperação estatural pós-natal
- Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
