The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

por Fabbri, Helena Campos, de Andrade, Juliana Gabriel Ribeiro, Soardi, Fernanda Caroline, de Calais, Flávia Leme, Petroli, Reginaldo José, Maciel-Guerra, Andréa Trevas, Guerra-Júnior, Gil, de Mello, Maricilda Palandi
Publicado 2014

Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development

por de Calais, Flávia Leme, Soardi, Fernanda Caroline, Petroli, Reginaldo José, Lusa, Ana Letícia Gori, de Paiva e Silva, Roberto Benedito, Maciel-Guerra, Andréa Trevas, Guerra-Júnior, Gil, de Mello, Maricilda Palandi
Publicado 2011

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

por de Omena Filho, Reinaldo Luna, Petroli, Reginaldo José, Soardi, Fernanda Caroline, de Paula Michelatto, Débora, Mazzola, Taís Nitsch, Fabbri-Scallet, Helena, de Mello, Maricilda Palandi, Zanotti, Susane Vasconcelos, Gubert, Ida Cristina, Monlleo, Isabella
Publicado 2022