FSH may be a useful tool to allow early diagnosis of Turner syndrome

por Carpini, Stela, Carvalho, Annelise Barreto, de Lemos-Marini, Sofia Helena Valente, Guerra-Junior, Gil, Maciel-Guerra, Andréa Trevas
Publicado 2018

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

Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy

por Amaral-Fernandes, Marcela Scabello, Marcondes, Ana Maria, Miranda, Paulo Maurício do Amor Divino, Maciel-Guerra, Andréa Trevas, Sartorato, Edi Lúcia
Publicado 2011

Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON)

por Martins, Fábio Tadeu Arrojo, Miranda, Paulo Maurício do Amor Divino, Fernandes, Marcela Scabello Amaral, Maciel-Guerra, Andréa Trevas, Sartorato, Edi Lúcia
Publicado 2017

NPHS2 Mutations: A Closer Look to Latin American Countries

por Guaragna, Mara Sanches, Lutaif, Anna Cristina G. B., Maciel-Guerra, Andréa T., Belangero, Vera M. S., Guerra-Júnior, Gil, De Mello, Maricilda P.
Publicado 2017

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

Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review

por Barros, Beatriz Amstalden, de Oliveira, Letícia Ribeiro, Surur, Cíntia Regina Crocetti, Barros-Filho, Antonio de Azevedo, Maciel-Guerra, Andrea Trevas, Guerra-Junior, Gil
Publicado 2021

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

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

Interaction between audiology and genetics in the study of a family: the complexity of molecular diagnosis and genetic counseling

por Hoffmann, Flavia Maria Rodrigues, Rodrigues, Patrícia Fernandes, dos Santos, Teresa Maria Momensohn, Sartorato, Edi Lucia, Maciel-Guerra, Andréa Trevas, Matas, Carla Gentile, de Moraes, Vanessa Cristine Sousa
Publicado 2015

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

por Cunha, Sarah Crestian, de Andrade, Juliana Gabriel Ribeiro, de Angelis, Camila Matsunaga, Billis, Athanase, Bustorff-Silva, Joaquim Murray, Maciel-Guerra, Andréa Trevas, Miranda, Márcio Lopes, Guerra-Júnior, Gil
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

NPHS2 mutations account for only 15 % of nephrotic syndrome cases

por Guaragna, Mara Sanches, Lutaif, Anna Cristina GB, Piveta, Cristiane SC, Souza, Marcela L., de Souza, Suéllen R., Henriques, Taciane B., Maciel-Guerra, Andréa T., Belangero, Vera MS, Guerra-Junior, Gil, De Mello, Maricilda P.
Publicado 2015

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

MON-056 Rare X Chromosome Pericentric Inversion Associated with Ovotesticular Disorder of Sex Development

por Guerra-Junior, Gil, Santos, Ana Paula, Oliveira, Flavia M, Vieira, Tarsis A P, Campos, Nilma L V, Miranda, Marcio L, Guaragna, Mara S, Fabbri-Scallet, Helena, de Mello, Maricilda P, Maciel-Guerra, Andrea Trevas
Publicado 2020

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

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