SUN-035 Performance of Mutation Pathogenicity Prediction Tools on Missense Variants Associated with 46XY Disorders of Sex Development

por Montenegro, Luciana, Lerario, Antonio, Nishi, Mirian, Mendonca, Berenice
Publicado 2019

SUN-031 Quantification of Pooled Libraries for Optimizing Cluster Density in Next Generation Sequencing

por Narcizo, Amanda, Cardoso, Lais, Funari, Mariana, França, Monica, Montenegro, Luciana, Nishi, Mirian, Mendonca, Berenice
Publicado 2019

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development

por Montenegro, Luciana R., Lerário, Antônio M., Nishi, Miriam Y., Jorge, Alexander A.L., Mendonca, Berenice B.
Publicado 2021

OR17-5 Clinical and Genetic Features of Constitutional Delay of Growth and Puberty

por Sales Barroso, Priscila, Lerario, Antonio, Montenegro, Luciana, Vasques, Gabriela, Lima Amato, Lorena, Silveira, Leticia, Mendonca, Berenice, Jorge, Alexander, Latronico, Ana Claudia
Publicado 2019

OR18-2 Clinical, Hormonal and Genetic Characterization of Familial Central Precocious Puberty

por Argente, Jesús, Brito, Vinicius, Guimaraes, Aline, Latronico, Ana Claudia, Leal, Andrea, Mendonça, Berenice, Montenegro, Luciana, Piovesan, Maiara, Ramos, Carolina, Seraphim, Carlos, Tinano, Flavia, Canton, Ana
Publicado 2022

THU191 Update On The Etiological Diagnosis Of Central Precocious Puberty In Both Sexes

por Machado Canton, Ana Pinheiro, Latronico, Ana Claudia, Montenegro, Luciana Ribeiro, Seraphim, Carlos Eduardo, Tinano, Flávia Rezende, de Faria, Aline Guimarães, Mendonca, Berenice Bilharinho, Brito, Vinicius Nahime
Publicado 2023

SUN-089 Novel Genetic and Biochemical Findings of DLK1 Deficiency in Children with Central Precocious Puberty - a Collaborative Brazilian-Spanish Study

por Montenegro, Luciana Ribeiro, Labarta, José, Piovesan, Maiara, Canton, Ana Pinheiro Machado, Collado, Raquel Corripio, Soriano-Guillén, Leandro, Barrios, Vicente, Seraphim, Carlos Eduardo, Brito, Vinicius Nahime, Latronico, Ana Claudia, Argente, Jesus
Publicado 2020

MON-251 Clinical Features of a Large Cohort of Patients with Familial Central Precocious Puberty Caused by Loss-of-Function Mutations in MKRN3

por Seraphim, Carlos, Canton, Ana, Montenegro, Luciana, Piovesan, Maiara, Cunha-Silva, Marina, Macedo, Delanie, Guimarães, Aline, Ramos, Carolina, Gagliardi, Priscila, Abreu, Ana Paula, Kaiser, Ursula, Mendonca, Berenice, Brito, Vinicius, Latronico, Ana Claudia
Publicado 2019

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

por Crespo, Raiane P, Rocha, Thais P, Montenegro, Luciana R, Nishi, Mirian Y, Jorge, Alexander A L, Maciel, Gustavo A R, Baracat, Edmund, Latronico, Ana Claudia, Mendonca, Berenice B, Gomes, Larissa G
Publicado 2022

OR17-2 Comprehensive Genetic Investigation of Patients with Central Precocious Puberty Associated with Complex Phenotypes

por Canton, Ana, Brito, Vinicius, Montenegro, Luciana, Krepischi, Ana, Rosenberg, Carla, Costa, Silvia, Ramos, Carolina, Cunha, Marina, Seraphim, Carlos, Faria, Aline, Funari, Mariana, Jorge, Alexander, de Zegher, Francis, Mendonca, Berenice, Latronico, Ana Claudia
Publicado 2019

SUN-090 Investigation of Imprinting Defects in MKRN3 and DLK1 in Children with Idiopathic Central Precocious Puberty Through Specific DNA Methylation Analysis

por Canton, Ana Pinheiro-Machado, Steunou, Virginie, Sobrier, Marie-Laure, Montenegro, Luciana Ribeiro, Bessa, Danielle de Souza, Gomes, Larissa Garcia, Jorge, Alexander Augusto Lima, Mendonca, Berenice Bilharinho, Brito, Vinicius Nahime, Netchine, Irene, Latronico, Ana Claudia
Publicado 2020

SUN-725 Clinical and Genetic Features of Families with Maternally Inherited Central Precocious Puberty

por Tinano, Flávia Rezende, Canton, Ana Pinheiro Machado, Montenegro, Luciana Ribeiro, Leal, Andrea de Castro, Ramos, Carolina, Piovesan, Maiara Ribeiro, Seraphim, Carlos Eduardo, de Faria, Aline Guimarães, Mendonca, Berenice Bilharinho, Brito, Vinicius Nahime, Latronico, Ana Claudia
Publicado 2020

SUN-710 Custom Panel to Diagnosis Genetic Endocrine Disorders in a Tertiary Academic Hospital

por Cardoso, Lais Cavalca, Narcizo, Amanda de Moraes, Benedetti, Anna Flavia Figueredo, Jorge, Alexander Augusto Lima, Braga, Barbara Leitao, França, Monica Malheiros, Montenegro, Luciana Ribeiro, Funari, Mariana Ferreira de Assis, Nishi, Mirian Yumie, Mendonca, Berenice Bilharinho
Publicado 2020

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

SUN-218 Analysis of ATRX and ZNRF3 Expression and Copy Number Variation in a Pediatric and Adult Cohort with Adrenocortical Tumors

por Brondani, Vânia Balderrama, Montenegro, Luciana Ribeiro, Mariani, Beatriz Marinho, Nishi, Mirian Yumie, Zerbini, Maria Claudia N, Lacombe, Amanda Meneses Ferreira, Tanno, Fabio Y, Srougi, Victor, Chambo, Jose L, Denes, Francisco T, Mendonca, Berenice B, Almeida, Madson Q, Villares Fragoso, Maria Candida Barisson
Publicado 2020

OR15-04 Central Precocious Puberty without Central Nervous System Lesions: Is It Really Idiopathic?

por Canton, Ana Pinheiro-Machado, Brito, Vinicius Nahime, Montenegro, Luciana Ribeiro, Macedo, Delanie Bulcão, Bessa, Danielle de Souza, Silva, Marina Cunha, Seraphim, Carlos Eduardo, Piovesan, Maiara Ribeiro, Teles, Milena Gurgel, Silveira, Leticia Gontijo, Krepischi, Ana, Netchine, Irene, Mendonca, Berenice Bilharinho, Latronico, Ana Claudia
Publicado 2020

SAT-155 High Prevalence Alterations on DNA Mismatch Repair Genes Related to Lynch Syndrome in Pediatric Patients with Adrenocortical Tumor Carried of the Germline Mutation on TP53

por Brondani, Vânia Balderrama, Montenegro, Luciana Ribeiro, Lacombe, Amanda Meneses Ferreira, Nishi, Mirian Yumie, Funari, Mariana Ferreira de Assis, Narcizo, Amanda de Moraes, Cardoso, Laís, Zerbini, Maria Claudia, Denes, Francisco, Latronico, Ana Claudia, Mendonca, Berenice Bilharinho, Almeida, Madson Q, Lerario, Antonio, Soares, Ibere, Vilares, Candida
Publicado 2020

Low Protein Expression of both ATRX and ZNRF3 as Novel Negative Prognostic Markers of Adult Adrenocortical Carcinoma

por Brondani, Vania Balderrama, Lacombe, Amanda Meneses Ferreira, Mariani, Beatriz Marinho de Paula, Montenegro, Luciana, Soares, Iberê Cauduro, Bezerra-Neto, João Evangelista, Tanno, Fabio Yoshiaki, Srougi, Victor, Chambo, José Luis, Mendonca, Berenice Bilharinho, Almeida, Madson Q., Zerbini, Maria Claudia Nogueira, Fragoso, Maria Candida Barisson Villares
Publicado 2021

THU235 Usefulness Of Digital Droplet Polymerase Chain Reaction (ddPCR) For Molecular Diagnosis Of McCune-Albright Syndrome In DNA From Peripheral Blood Leukocytes

por de Faria, Aline Guimarães, Montenegro, Luciana Ribeiro, Lima Jorge, Alexander Augusto, Jallad, Raquel Soares, Martin, Regina Matsunaga, Villares Fragoso, Maria Candida Barisson, Machado Canton, Ana Pinheiro, Seraphim, Carlos Eduardo, Tinano, Flávia Rezende, de Souza Pinto, Nadja C, Mendonca, Berenice Bilharinho, Latronico, Ana Claudia, Brito, Vinicius Nahime
Publicado 2023

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

por Domenice, Sorahia, Machado, Aline Zamboni, Ferreira, Frederico Moraes, Ferraz‐de‐Souza, Bruno, Lerario, Antonio Marcondes, Lin, Lin, Nishi, Mirian Yumie, Gomes, Nathalia Lisboa, da Silva, Thatiana Evelin, Silva, Rosana Barbosa, Correa, Rafaela Vieira, Montenegro, Luciana Ribeiro, Narciso, Amanda, Costa, Elaine Maria Frade, Achermann, John C, Mendonca, Berenice Bilharinho
Publicado 2016