Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

por Villela, Thais R., Freire, Bruna L., Braga, Nathalia T. P., Arantes, Rodrigo R., Funari, Mariana F. A., Alexander, Jorge A L, Silva, Ivani N.
Publicado 2020

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

por Scalco, Renata C., Gonçalves, Fernanda T., Santos, Hadassa C., Cardena, Mari M. S. G., Tonelli, Carlos A., Funari, Mariana F. A., Aracava, Rosana M., Pereira, Alexandre C., Fridman, Cintia, Jorge, Alexander A. L.
Publicado 2017

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital

por Narcizo, Amanda M., Cardoso, Lais C., Benedetti, Anna F.F., Jorge, Alexander A.L., Funari, Mariana F.A., Braga, Barbara L., Franca, Monica M., Montenegro, Luciana R., Lerario, Antonio M., Nishi, Mirian Y., Mendonca, Berenice B.
Publicado 2022

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

por França, Monica M., Funari, Mariana F. A., Lerario, Antonio M., Santos, Mariza G., Nishi, Mirian Y., Domenice, Sorahia, Moraes, Daniela R., Costalonga, Everlayny F., Maciel, Gustavo A. R., Maciel-Guerra, Andrea T., Guerra-Junior, Gil, Mendonca, Berenice B.
Publicado 2020

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

por Nakaguma, Marilena, Correa, Fernanda A, Santana, Lucas S, Benedetti, Anna F F, Perez, Ricardo V, Huayllas, Martha K P, Miras, Mirta B, Funari, Mariana F A, Lerario, Antonio M, Mendonca, Berenice B, Carvalho, Luciani R S, Jorge, Alexander A L, Arnhold, Ivo J P
Publicado 2019