Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort

by Amanda Cambraia, Mario Campos Junior, Verônica Marques Zembrzuski, Ricardo Magrani Junqueira, Pedro Hernán Cabello, Giselda Maria Kalil de Cabello
Published 2021-01-01

The first case of NEUROD1‐MODY reported in Latin America

by Gabriella de Medeiros Abreu, Roberta Magalhães Tarantino, Pedro Hernan Cabello, Verônica Marques Zembrzuski, Ana Carolina Proença daFonseca, Melanie Rodacki, Lenita Zajdenverg, Mário Campos Junior
Published 2019-12-01

MODY probability calculator for GCK and HNF1A screening in a multiethnic background population

by Roberta Magalhães Tarantino, Gabriella de Medeiros Abreu, Ana Carolina Proença de Fonseca, Rosane Kupfer, Maria de Fátima Carvalho Pereira, Mario Campos Júnior, Lenita Zajdenverg, Melanie Rodacki

Exon Dosage Variations in Brazilian Patients with Parkinson’s Disease: Analysis of SNCA, PARKIN, PINK1 and DJ-1 Genes

by Karla Cristina Vasconcelos Moura, Mário Campos Junior, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José Silva, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel
Published 2012-01-01

Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

by Raisa da Silva Martins, Mario Campos Junior, Aline dosSantos Moreira, Verônica Marques Zembrzuski, Ana Carolina Proença daFonseca, Gabriella de Medeiros Abreu, Pedro Hernan Cabello, Giselda Maria Kalil deCabello
Published 2019-07-01

Genetic Variants in the Activation of the Brown-Like Adipocyte Pathway and the Risk for Severe Obesity

by Ana Carolina Proença  da Fonseca, Guilherme Proença  da Fonseca, Bruna Marchesini, Danielle Dutra Voigt, Mario Campos Junior, Verônica Marques Zembrzuski, João Regis Ivar Carneiro, José Firmino Nogueira Neto, Pedro Hernan Cabello, Giselda Maria Kalil Cabello
Published 2020-04-01

Adiponectin, Retinoic Acid Receptor Responder 2, and Peroxisome Proliferator-Activated Receptor-γ Coativator-1 Genes and the Risk for Obesity

by Ana Carolina Proença da Fonseca, Alan Cleveland Ochioni, Raisa da Silva Martins, Verônica Marques Zembrzuski, Mario Campos Junior, Vivianne Galante Ramos, João Regis Ivar Carneiro, José Firmino Nogueira Neto, Pedro Hernan Cabello, Giselda Maria Kalil Cabello
Published 2017-01-01

Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease

by Karla Cristina Vasconcelos Moura, Mário Campos Junior, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José Silva, Flávia Lima dos Santos, Fabíola da Costa Rodrigues, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel
Published 2013-01-01

Generation of patient-specific pluripotent induced stem cell line UFRJi007-A from a Brazilian familial amyotrophic lateral sclerosis patient

by Fernanda Gubert, Juliana F. Vasques, Tatiane D. Cozendey, Pablo Domizi, María Fernanda Toledo, Tais H. Kasai-Brunswick, Camila Hochman-Mendez, Mário Campos Junior, Verônica Marques Zembrzuski, Marli P.S. Loureiro, José M.B. Lima, Claudio H. Gress, Giselda M.K. Cabello, Pedro H. Cabello, Tamara Borgonovo, Isadora M. Vaz, Rosane Silva, Rosalia Mendez-Otero
Published 2019-08-01

Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity

by Kaio Cezar Rodrigues Salum, Kaio Cezar Rodrigues Salum, Guilherme Orofino de Souza, Gabriella de Medeiros Abreu, Mário Campos Junior, Fabiana Barzotto Kohlrausch, João Regis Ivar Carneiro, José Firmino Nogueira Neto, Fernanda Cristina C. Mattos Magno, Eliane Lopes Rosado, Lohanna Palhinha, Clarissa Menezes Maya-Monteiro, Giselda Maria Kalil de Cabello, Pedro Hernán Cabello, Pedro Hernán Cabello, Patrícia Torres Bozza, Verônica Marques Zembrzuski, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca
Published 2020-12-01