Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families

Autor: Adriana Lofrano-Porto, Luiz Claudio Castro, Olivia Laquis de Moraes, Luciana Pinto Valadares, Renata Santarem de Oliveira, Selma Moreira de Brito Sousa, Alessandra Pfeilsticker, Sarah Caixeta Cardoso

Publikováno v: Endocrine. 62:326-332

11β-hydroxylase deficiency accounts for 5% of congenital adrenal hyperplasia cases. Diagnosis suspiction is classically based on the association between abnormal virilization, precocious puberty, and hypertension in 46XX or 46XY subjects. We investi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c4cea9e1ad19126554ed694cbdc15f
https://doi.org/10.1007/s12020-018-1691-4

A novel variant in the SERPINA7 gene causing partial TBG deficiency in a women and two male siblings: molecular and protein structural analysis

Autor: Sarah Caixeta Cardoso, Matheus de Oliveira Andrade, Adriana Lofrano-Porto, Andressa Aby Faraj Linhares Maciel, Cristiane Lima, Vinícius Santos da Cunha, Juliana F. Mazzeu, Lucas Bleicher

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e2d464373f579233984f6df75561e54e
https://doi.org/10.1530/endoabs.49.oc4.3

Mutational Analysis of the Genes Encoding RFAmide-Related Peptide-3, the Human Orthologue of Gonadotrophin-Inhibitory Hormone, and its Receptor (GPR147) in Patients with Gonadotrophin-Releasing Hormone-Dependent Pubertal Disorders

Autor: C. J. G. Lima, L. D. Menezes, C. Capanema, Adriana Lofrano-Porto, E. F. Duarte, E. Zingler, G. Vogado, O. L. de Moraes, B. T. A. dos Santos, Ana Claudia Latronico, V. N. de Brito, Sarah Caixeta Cardoso, E. F. L. Lemos

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

RFamide-related peptide-3 (RFRP-3), the orthologue of avian gonadotrophin-inhibitory hormone, and its receptor GPR147 have been recently identified in the human hypothalamus, and their roles in the regulation of reproductive axis has been studied. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfdba46263c6a73d02b59541a4755bdb
https://doi.org/10.1111/jne.12207