Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family

por Petroli, Reginaldo J, Maciel-Guerra, Andréa T, Soardi, Fernanda C, de Calais, Flávia L, Guerra-Junior, Gil, de Mello, Maricilda Palandi
Publicado 2011

A study of splicing mutations in disorders of sex development

por de Calais, Flavia Leme, Smith, Lindsay D., Raponi, Michela, Maciel-Guerra, Andréa Trevas, Guerra-Junior, Gil, de Mello, Maricilda Palandi, Baralle, Diana
Publicado 2017

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

por Gabriel Ribeiro de Andrade, Juliana, Marques-de-Faria, Antonia Paula, Fabbri, Helena Campos, de Mello, Maricilda Palandi, Guerra-Júnior, Gil, Maciel-Guerra, Andréa Trevas
Publicado 2014

A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins

por Esquiaveto-Aun, Adriana Mangue, De Mello, Maricilda Palandi, Paulino, Maria Fernanda Vanti Macedo, Minicucci, Walter José, Guerra-Júnior, Gil, De Lemos-Marini, Sofia Helena Valente
Publicado 2015

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

por dos Santos, Ana Paula, Ribeiro Andrade, Juliana Gabriel, Piveta, Cristiane Santos Cruz, de Paulo, Juliana, Guerra-Junior, Gil, de Mello, Maricilda Palandi, Maciel-Guerra, Andréa Trevas
Publicado 2013

Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents

por Della Torre, Osmar Henrique, Paes, Lúcia Arisaka, Henriques, Taciane Barbosa, de Mello, Maricilda Palandi, Celeri, Eloisa Helena Rubello Valler, Dalgalarrondo, Paulo, Guerra-Júnior, Gil, Santos-Júnior, Amilton dos
Publicado 2018

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

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study

por Riccetto, Luísa, Vieira, Tarsis Paiva, Viguetti-Campos, Nilma Lucia, Mazzola, Tais Nitsch, Guaragna, Mara Sanches, Fabbri-Scallet, Helena, de Mello, Maricilda Palandi, Marques-de-Faria, Antonia Paula, Maciel-Guerra, Andrea Trevas, Guerra, Gil
Publicado 2022

SUN-086 Pilot Study Using Aromatase Inhibitor in Puberty of Boys With Partial Androgen Insensitivity: Report of Three Cases

por Maciel-Guerra, Andrea Trevas, de Andrade, Juliana Gabriel Ribeiro, de Souza, Arina Tavares, Campos, Mariana Baldini, Marques-Junior, Hercules Oliveira, Guaragna, Mara Sanches, Fabbri-Scallet, Helena, de Mello, Maricilda Palandi, Guerra-Junior, Gil
Publicado 2020

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

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development

por Oliveira, Letícia Ribeiro, Longui, Carlos Alberto, Guaragna-Filho, Guilherme, Costa, José Luiz, Lanaro, Rafael, Silva, David Antônio, Chiamolera, Maria Izabel, de Mello, Maricilda Palandi, Morcillo, André Moreno, Maciel-Guerra, Andrea Trevas, Guerra-Junior, Gil
Publicado 2020

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

por de Oliveira, Felipe Rodrigues, Mazzola, Taís Nitsch, de Mello, Maricilda Palandi, Francese-Santos, Ana Paula, de Lemos-Marini, Sofia Helena V., Maciel-Guerra, Andrea Trevas, Hiort, Olaf, Werner, Ralf, Guerra-Junior, Gil, Fabbri-Scallet, Helena
Publicado 2023

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

por de Paula Michelatto, Débora, Karlsson, Leif, Lusa, Ana Letícia Gori, Silva, Camila D'Almeida Mgnani, Östberg, Linus Joakim, Persson, Bengt, Guerra-Júnior, Gil, de Lemos-Marini, Sofia Helena Valente, Barbaro, Michela, de Mello, Maricilda Palandi, Lajic, Svetlana
Publicado 2016

Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study

por Guaragna-Filho, Guilherme, Calixto, Antônio Ramos, Astur, Anna Beatriz Lima do Valle, de Paula, Georgette Beatriz, de Oliveira, Laurione Cândido, Morcillo, André Moreno, Gonçalves, Ezequiel Moreira, de Mello, Maricilda Palandi, Maciel-Guerra, Andrea Trevas, Guerra-Junior, Gil
Publicado 2022

Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents

por Dos Santos-Júnior, Amilton, Henriques, Taciane Barbosa, de Mello, Maricilda Palandi, Della Torre, Osmar Henrique, Paes, Lúcia Arisaka, Ferreira-Neto, Adriana Perez, Sewaybricker, Letícia Esposito, Fontana, Thiago Salum, Celeri, Eloisa Helena Rubello Valler, Guerra-Júnior, Gil, Dalgalarrondo, Paulo
Publicado 2016

Corrigendum to “Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents”

por Dos Santos-Júnior, Amilton, Henriques, Taciane Barbosa, de Mello, Maricilda Palandi, Della Torre, Osmar Henrique, Paes, Lúcia Arisaka, Ferreira-Neto, Adriana Perez, Sewaybricker, Letícia Esposito, Fontana, Thiago Salum, Celeri, Eloisa Helena Rubello Valler, Guerra-Júnior, Gil, Dalgalarrondo, Paulo
Publicado 2017

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency

por Veiga-Junior, Nélio Neves, Medaets, Pedro Augusto Rodrigues, Petroli, Reginaldo José, Calais, Flávia Leme, de Mello, Maricilda Palandi, Castro, Carla Cristina Telles de Sousa, Guaragna-Filho, Guilherme, Sewaybricker, Letícia Espósito, Marques-de-Faria, Antonia Paula, Maciel-Guerra, Andréa Trevas, Guerra-Junior, Gil
Publicado 2012

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

por De Paula, Georgette Beatriz, Barros, Beatriz Amstalden, Carpini, Stela, Tincani, Bruna Jordan, Mazzola, Tais Nitsch, Sanches Guaragna, Mara, Piveta, Cristiane Santos da Cruz, de Oliveira, Laurione Candido, Andrade, Juliana Gabriel Ribeiro, Guaragna-Filho, Guilherme, Barbieri, Pedro Perez, Ferreira, Nathalia Montibeler, Miranda, Marcio Lopes, Gonçalves, Ezequiel Moreira, Morcillo, Andre Moreno, Viguetti-Campos, Nilma Lucia, Lemos-Marini, Sofia Helena Valente, Silva, Roberto Benedito de Paiva, Marques-de-Faria, Antonia Paula, De Mello, Maricilda Palandi, Maciel-Guerra, Andrea Trevas, Guerra-Junior, Gil
Publicado 2016