RF17 | PMON24 The paradox of combined pituitary hormone deficiency and tall stature: a glimpse from exome sequencing

por Carvalho, Luciani R, Benedetti, Anna Flãvia, Oliveira, Julia
Publicado 2022

SAT-295 An Extremely Rare Novel Missense Variant C.912G≫A; P.M304I in SOX3 Gene Is Responsible for X-Linked GH Deficiency in a Brazilian Boy Without Mental Retardation

por Benedetti, Anna Flavia Figueredo, Silva, Juliana M, Biscotto, Isabela Peixoto, Ferreira, Nathalia Pereira, Arnhold, Ivo J, Mendonca, Berenice Bilharinho, Carvalho, Luciani Renata Silveira
Publicado 2020

SUN-723 CDH2 Gene Analysis in a Cohort of Patients with Congenital Hypopituitarism

por Kertsz, Renata, Ferreira, Nathália, Madeira, João L o m, Benedetti, Anna Flavia Figueredo, Azevedo, Bruna, Bissegatto, Débora Delmonte, Camper, Sally, Mendonca, Berenice Bilharinho, Jorge, Alexander, Arnhold, Ivo J p, Carvalho, Luciani Renata Silveira
Publicado 2020

Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant

por Labello, Julia Haddad, Benedetti, Anna Flávia Figueredo, Azevedo, Bruna Viscardi, Jorge, Alexander Augusto de Lima, Cescato, Valter Angelo Sperling, Rosemberg, Sergio, Frasseto, Fernando Pereira, Arnhold, Ivo Jorge Prado, de Carvalho, Luciani Renata Silveira
Publicado 2022

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

SAT-LB58 Molecular Investigation of Recessive Inheritance by Exome Sequencing of Patients With Congenital Hypopituitarism

por Pereira Ferreira, Nathalia Garcia Bianchi, Madeira, Joao Luiz do Oliveira, Kertsz, Renata, Gergics, Peter, Benedetti, Anna Flavia Figueredo, Biscotto, Isabela Peixoto, Fang, Qing, Ma, Qianyi, Ozel, Bilge Ayse, Li, Jun, Camper, Sally Ann, Jorge, Alexander Augusto Lima, Mendonca, Berenice Bilharinho, Arnhold, Ivo J, Carvalho, Luciani Renata Silveira
Publicado 2020

SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

por Lerario, Antonio Marcondes, Mohan, Dipika R., Montenegro, Luciana Ribeiro, Funari, Mariana Ferreira de Assis, Nishi, Mirian Yumie, Narcizo, Amanda de Moraes, Benedetti, Anna Flavia Figueredo, Oba-Shinjo, Sueli Mieko, Vitorino, Aurélio José, dos Santos, Rogério Alexandre Scripnic Xavier, Jorge, Alexander Augusto de Lima, Onuchic, Luiz Fernando, Marie, Suely Kazue Nagahashi, Mendonca, Berenice Bilharinho
Publicado 2020

OR27-01 Combining Clinical and Genetic Approaches in Diagnosing a Large Brazilian Cohort of Patients with 46,XY Differences/Disorders of Sex Development (DSD)

por Almeida Gomes, Nathalia Lisboa Rosa, Batista, Rafael Loch, Nishi, Mirian Yumie, Lerario, Antonio Marcondes, Silva, Thatiana Evilen, Benedetti, Anna Flavia Figueredo, Funari, Mariana Ferreira de Assis, Júnior, José Antonio Diniz Faria, Silva, Daniela Moraes, Montenegro, Luciana Ribeiro, Ferrari, Maria Tereza Martins, Jorge, Alexander Augusto Lima, Costa, Elaine Maria Frade, Domenice, Sorahia, Mendonca, Berenice Bilharinho
Publicado 2020

MON-218 Clinical and Genetic Aspects of Pediatric Pheochromocytomas and Paragangliomas

por Petenuci, Janaina, Guimaraes, Augusto, Benedetti, Anna Flavia Figueredo, Fagundes, Gustavo Freitas Cardoso, Pereira, Maria Adelaide, D’Eur, Joya Emilie Correa, Zerbini, Maria Claudia, Siqueira, Sheila, Yamauchi, Fernando, Soares, Silvia, Srougi, Vitor, Tanno, Fabio Y, Chambo, Jose L, Denes, Francisco T, Hoff, Ana O, Latronico, Ana Claudia, Mendonca, Berenice Bilharinho, Fragoso, Maria Candida B V, Almeida, Madson Q
Publicado 2020

Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

por Ferreira, Nathalia G B P, Madeira, Joao L O, Gergics, Peter, Kertsz, Renata, Marques, Juliana M, Trigueiro, Nicholas S S, Benedetti, Anna Flavia Figueredo, Azevedo, Bruna V, Fernandes, Bianca H V, Bissegatto, Debora D, Biscotto, Isabela P, Fang, Qing, Ma, Qianyi, Ozel, Asye B, Li, Jun, Camper, Sally A, Jorge, Alexander A L, Mendonça, Berenice B, Arnhold, Ivo J P, Carvalho, Luciani R
Publicado 2023

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

por Nakaguma, Marilena, Ferreira, Nathalia Garcia Bianchi Pereira, Benedetti, Anna Flavia Figueredo, Madi, Mariana Cotarelli, Silva, Juliana Moreira, Li, Jun Z., Ma, Qianyi, Bilge Ozel, Ayse, Fang, Qing, Narcizo, Amanda de Moraes, Cardoso, Laís Cavalca, Montenegro, Luciana Ribeiro, Funari, Mariana Ferreira de Assis, Nishi, Mirian Yumie, Arnhold, Ivo Jorge Prado, Jorge, Alexander Augusto de Lima, de Mendonca, Berenice Bilharinho, Camper, Sally Ann, Carvalho, Luciani R.
Publicado 2021

MON-202 Germline SDHB Exon 1 Deletion Is Associated with Absence of (131)I-metaiodobenzylguanidine (MIBG) Uptake in Malignant Paragangliomas

por Petenuci, Janaina, Fagundes, Gustavo Freitas Cardoso, Motta, Flavia Tedesco, Magalhães, Aurea Luiza F, Guimaraes, Augusto G, Benedetti, Anna Flavia Figueredo, Afonso, Ana Caroline F, Pereira, Maria Adelaide A, Coura-Filho, George B, Zerbini, Maria Claudia N, Siqueira, Sheila, Srougi, Victor, Tanno, Fabio Y, Chambo, Jose Luis, Ferrari, Marcela S S, Neto, Joao Evangelista Bezerra, Latronico, Ana Claudia, Hoff, Ana O, Mendonca, Berenice Bilharinho, Fragoso, Maria Candida B V, Almeida, Madson Q
Publicado 2020