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

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

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

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