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

por Cambraia, Amanda, Junior, Mario Campos, Zembrzuski, Verônica Marques, Junqueira, Ricardo Magrani, Cabello, Pedro Hernán, de Cabello, Giselda Maria Kalil
Publicado 2021

Repeatability and Diagnostic Value of Nasal Potential Difference in a Genetically Admixed Population

por Sad, Izabela Rocha, Higa, Laurinda Yoko Shinzato, Leal, Teresinha, Martins, Raisa da Silva, de Almeida, Ana Claudia, Ramos, Eloane Goncalves, de Cabello, Giselda Maria Kalil, Peixoto, Maria Virginia Marques
Publicado 2016

Influence of FTO rs9939609 polymorphism on appetite, ghrelin, leptin, IL6, TNFα levels, and food intake of women with morbid obesity

por Magno, Fernanda Cristina Carvalho Mattos, Guaraná, Helena Chrispim, Fonseca, Ana Carolina Proença, Cabello, Giselda Maria Kalil, Carneiro, João Régis Ivar, Pedrosa, Aline Pereira, Ximenes, Ana Carolina, Rosado, Eliane Lopes
Publicado 2018

The association of the fat mass and obesity-associated gene (FTO) rs9939609 polymorphism and the severe obesity in a Brazilian population

por da Fonseca, Ana Carolina Proença, Abreu, Gabriella Medeiros, Zembrzuski, Verônica Marques, Campos Junior, Mario, Carneiro, João Regis Ivar, Nogueira Neto, José Firmino, Cabello, Giselda Maria Kalil, Cabello, Pedro Hernán
Publicado 2019

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

por Martins, Raisa da Silva, Campos Junior, Mario, dos Santos Moreira, Aline, Marques Zembrzuski, Verônica, da Fonseca, Ana Carolina Proença, Abreu, Gabriella de Medeiros, Cabello, Pedro Hernan, de Cabello, Giselda Maria Kalil
Publicado 2019

Genetic variants in the fat mass and obesity-associated (FTO) gene confer risk for extreme obesity and modulate adiposity in a Brazilian population

por da Fonseca, Ana Carolina Proença, Marchesini, Bruna, Zembrzuski, Verônica Marques, Voigt, Danielle Dutra, Ramos, Vivianne Galante, Carneiro, João Regis Ivar, Nogueira, José Firmino, de Cabello, Giselda Maria Kalil, Cabello, Pedro Hernán
Publicado 2020

Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report

por da Silva Martins, Raisa, Fonseca, Ana Carolina Proença, Acosta, Franklyn Enrique Samudio, Folescu, Tania Wrobel, Higa, Laurinda Yoko Shinzato, Sad, Izabela Rocha, de Miranda Chaves, Célia Regina Moutinho, Cabello, Pedro Hernan, Cabello, Giselda Maria Kalil
Publicado 2014

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

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

Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient

por da Fonseca, Ana Carolina Proença, Abreu, Gabriella de Medeiros, Zembrzuski, Verônica Marques, Junior, Mario Campos, Carneiro, João Regis Ivar, Magno, Fernanda Cristina C Mattos, Rosado, Eliane Lopes, Nogueira Neto, José Firmino, de Cabello, Giselda Maria Kalil, Cabello, Pedro Hernán
Publicado 2019

A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity

por da Fonseca, Ana Carolina Proença, Abreu, Gabriella de Medeiros, Palhinha, Lohanna, Zembrzuski, Verônica Marques, Campos Junior, Mario, Carneiro, João Regis Ivar, Nogueira Neto, José Firmino, Magno, Fernanda Cristina C Mattos, Rosado, Eliane Lopes, Maya-Monteiro, Clarissa Menezes, de Cabello, Giselda Maria Kalil, Cabello, Pedro Hernán, Bozza, Patricia Torres
Publicado 2021

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

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