Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency (2019)
- Authors:
- USP affiliated authors: BARACAT, EDMUND CHADA - FM ; MACIEL, GUSTAVO ARANTES ROSA - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- DOI: 10.1016/j.ejmg.2018.07.008
- Subjects: DOENÇAS OVARIANAS; GENES
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: European journal of medical genetics
- ISSN: 1769-7212
- Volume/Número/Paginação/Ano: v. 62, n. 3, p. 186-189, 2019
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
FRANCA, Monica M et al. Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency. European journal of medical genetics, v. 62, n. 3, p. 186-189, 2019Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2018.07.008. Acesso em: 22 jan. 2026. -
APA
Franca, M. M., Nishi, M. Y., Funari, M. F. A., Lerario, A. M., Baracat, E. C., Hayashida, S. A. Y., et al. (2019). Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency. European journal of medical genetics, 62( 3), 186-189. doi:10.1016/j.ejmg.2018.07.008 -
NLM
Franca MM, Nishi MY, Funari MFA, Lerario AM, Baracat EC, Hayashida SAY, Maciel GAR, Jorge AA de L, Mendonça BB de. Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency [Internet]. European journal of medical genetics. 2019 ; 62( 3): 186-189.[citado 2026 jan. 22 ] Available from: https://doi.org/10.1016/j.ejmg.2018.07.008 -
Vancouver
Franca MM, Nishi MY, Funari MFA, Lerario AM, Baracat EC, Hayashida SAY, Maciel GAR, Jorge AA de L, Mendonça BB de. Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency [Internet]. European journal of medical genetics. 2019 ; 62( 3): 186-189.[citado 2026 jan. 22 ] Available from: https://doi.org/10.1016/j.ejmg.2018.07.008 - DLK1 Is a Novel Link Between Reproduction and Metabolism
- Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
- Usefulness of MLPA in the detection of SHOX deletions
- GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects
- IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children
- Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly
- Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE)
- Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency
- The Effect of Transdermic Dihydrotestosterone Gel Treatment on Penile Size: Experience with Fifteen Patients
- Investigação genética
Informações sobre o DOI: 10.1016/j.ejmg.2018.07.008 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
