MODY screening: a new center for molecular genetic diagnosis in Brazil

por de Santana, Lucas Santos, Caetano, Lílian Araújo, Nery, Márcia, de Lima Jorge, Alexander Augusto, Bezerra, Milena Gurgel Teles
Publicado 2015

Next-generation sequencing in Brazilian MODY patients: a pilot study

por Caetano, Lílian Araújo, de Santana, Lucas Santos, Lerário, Antônio Marcondes, Nery, Márcia, de Lima Jorge, Alexander Augusto, Teles, Milena Gurgel
Publicado 2015

SAT-096 Response to RHGH Therapy in Children with Isolated Short Stature with or Without an Identified Genetic Cause

por De Andrade, Nathalia Liberatoscioli Menezes, Vasques, Gabriela Andrade, Funari, Mariana Ferreira de Assis, Mendonca, Berenice Bilharinho, Jorge, Alexander Augusto Lima
Publicado 2020

Amplification of the Insulin-Like Growth Factor 1 Receptor Gene Is a Rare Event in Adrenocortical Adenocarcinomas: Searching for Potential Mechanisms of Overexpression

por Ribeiro, Tamaya Castro, Jorge, Alexander Augusto, Almeida, Madson Q., Mariani, Beatriz Marinho de Paula, Nishi, Mirian Yumi, Mendonca, Berenice Bilharinho, Fragoso, Maria Candida Barisson Villares, Latronico, Ana Claudia
Publicado 2014

Detection of congenital generalized lipodystrophy mutations by next-generation sequencing: time for a new approach

por Riquetto, Aline Dantas Costa, de Santana, Lucas Santos, Caetano, Lílian Araújo, Lerário, Antônio Marcondes, Correia-Deur, Joya Emilie Menezes, Nery, Márcia, de Lima Jorge, Alexander Augusto, Teles, Milena Gurgel
Publicado 2015

THU169 Role Of Growth Hormone (GH) Therapy In Short Children With Skeletal Dysplasias And Pathogenic Variants In The COL2A1 Gene

por de Polli Cellin, Laurana, Guimaraes, Kayleigh Goncalves, De Andrade, Nathalia Liberatoscioli Menezes, Vasques, Gabriela Andrade, de Oliveira Goiano, Ellen, Akkari, Miguel, Santili, Claudio, Lima Jorge, Alexander Augusto, Malaquias, Alexsandra C
Publicado 2023

FRI094 Case Report: Treatment Of Sitosterolemia With Ezetimibe - 17 Years Of Follow-up

por Vieira Coutinho, Jean Gabriel, Santos Costa, Ana Carolina, Moura Issa, Milka Maria, Pereira Paim, Neiva, Quedas, Elisangela P S, Sutti Nunes, Valeria, Lima Jorge, Alexander Augusto, Regina Nakandakare, Edna, Faria Carrilho, Alexandre Jose
Publicado 2023

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-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-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

MON-333 Cutaneous Skeletal Hypophosphatemic Syndrome (Cshs) Caused by Somatic HRAS p.G13R Mutation: Long Follow-Up of Two Brazilian Women

por Maia, Thamiris Freitas, Freire, Bruna Lucheze, Rodrigues, Andresa de Santi, Jorgetti, Vanda, Rocha, André Caroli, Moises, Caio Santiago, de Souza, Bruno Ferraz, Rodrigues, Marcelo Bordalo, Jorge, Alexander Augusto de Lima, Martin, Regina Matsunaga, Cabral, Hially R
Publicado 2020

OR21-02 Diagnostic Yield Of A Multigene Approach In Children With Short Stature Of Unknown Cause

por De Andrade, Nathalia Liberatoscioli Menezes, de Assis Funari, Mariana Ferreira, Malaquias, Alexsandra, Branco Dantas, Naiara Castelo, Rezende, Raissa, de Polli Cellin, Laurana, Homma, Thais Kataoka, Lerario, Antonio Marcondes, Arnhold, Ivo J, Vasques, Gabriela Andrade, Lima Jorge, Alexander Augusto
Publicado 2023

THU166 A Minimum Data Set For The Monitoring Of Recombinant Human Growth Hormone (rhGH) Therapy In Children With Growth Hormone Deficiency (GHD)—A GloBE-Reg Initiative

por Chen, Suet Ching, Charmandari, Evangelia, Choi, Jin-Ho, Dou, Xinyu, Gong, Chunxiu, Hamza, Rasha, Harvey, Jamie, Hoffman, Andrew R, Horikawa, Reiko, Johannsson, Gudmundur, Lima Jorge, Alexander Augusto, Miller, Bradley Scott, Roehrich, Sebastian, Savendahl, Lars S, Tserotopolou, Xanthippi, Wajnrajch, Michael Paul, Faisal Ahmed, S
Publicado 2023

Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred

por Montenegro, Renan Magalhães, Costa-Riquetto, Aline Dantas, Fernandes, Virgínia Oliveira, Montenegro, Ana Paula Dias Rangel, de Santana, Lucas Santos, Jorge, Alexander Augusto de Lima, Karbage, Lia Beatriz de Azevedo Souza, Aguiar, Lindenberg Barbosa, Carvalho, Francisco Herlânio Costa, Teles, Milena Gurgel, d'Alva, Catarina Brasil
Publicado 2018

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

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

SUN-081 High Throughput Genetic Analysis Revealed Novel Genomic Loci and Candidate Genes Involved in Central Precocious Puberty Associated with Complex Phenotypes

por Canton, Ana Pinheiro-Machado, Krepischi, Ana, Montenegro, Luciana Ribeiro, Costa, Silvia, Rosenberg, Carla, Ramos, Carolina, Faria, Aline Guimarães, Seraphim, Carlos Eduardo, Tinano, Flávia Rezende, Kawahira, Rachel, Kim, Chong, de Zegher, Francis Edouard, de Assis Funari, Mariana Ferreira, Jorge, Alexander Augusto Lima, Mendonca, Berenice Bilharinho, Brito, Vinicius Nahime, Latronico, Ana Claudia
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

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