A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
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
Published in Diabetes, metabolic syndrome and obesity (01.01.2021)
Published in Diabetes, metabolic syndrome and obesity (01.01.2021)
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Journal Article
Identification of the First PAX4-MODY Family Reported in Brazil
Abreu, Gabriella de Medeiros, Soares, Camila de Almeida Pereira Dias, Tarantino, Roberta Magalhães, da Fonseca, Ana Carolina Proença, de Souza, Ritiele Bastos, Pereira, Maria de Fátima Carvalho, Cabello, Pedro Hernan, Rodacki, Melanie, Zajdenverg, Lenita, Zembrzuski, Verônica Marques, Campos Junior, Mário
Published in Diabetes, metabolic syndrome and obesity (01.01.2020)
Published in Diabetes, metabolic syndrome and obesity (01.01.2020)
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Journal Article
Genetic variants in DBC1, SIRT1, UCP2 and ADRB2 as potential biomarkers for severe obesity and metabolic complications
da Fonseca, Ana Carolina Proença, Assis, Izadora Sthephanie da Silva, Salum, Kaio Cezar Rodrigues, Palhinha, Lohanna, Abreu, Gabriella de Medeiros, Zembrzuski, Verônica Marques, Campos Junior, Mario, Nogueira-Neto, José Firmino, Cambraia, Amanda, Souza Junior, Mauro Lucio Ferreira, Maya-Monteiro, Clarissa Menezes, Cabello, Pedro Hernán, Bozza, Patrícia Torres, Carneiro, João Regis Ivar
Published in Frontiers in genetics (22.05.2024)
Published in Frontiers in genetics (22.05.2024)
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Journal Article
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil
Abreu, Gabriella de Medeiros, Tarantino, Roberta Magalhães, da Fonseca, Ana Carolina Proença, Andrade, Juliana Rosa Ferreira de Oliveira, de Souza, Ritiele Bastos, Soares, Camila de Almeida Pereira Dias, Cambraia, Amanda, Cabello, Pedro Hernan, Rodacki, Melanie, Zajdenverg, Lenita, Zembrzuski, Verônica Marques, Campos Junior, Mário
Published in Frontiers in endocrinology (Lausanne) (03.05.2022)
Published in Frontiers in endocrinology (Lausanne) (03.05.2022)
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Journal Article
Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity
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
Published in Frontiers in genetics (09.12.2020)
Published in Frontiers in genetics (09.12.2020)
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Journal Article
Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient
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
Published in Diabetes, metabolic syndrome and obesity (01.01.2019)
Published in Diabetes, metabolic syndrome and obesity (01.01.2019)
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Journal Article
The first case of NEUROD1‐MODY reported in Latin America
Abreu, Gabriella de Medeiros, Tarantino, Roberta Magalhães, Cabello, Pedro Hernan, Zembrzuski, Verônica Marques, Fonseca, Ana Carolina Proença, Rodacki, Melanie, Zajdenverg, Lenita, Campos Junior, Mário
Published in Molecular genetics & genomic medicine (01.12.2019)
Published in Molecular genetics & genomic medicine (01.12.2019)
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Journal Article
Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
Martins, Raisa da Silva, Campos Junior, Mario, Santos Moreira, Aline, Marques Zembrzuski, Verônica, Fonseca, Ana Carolina Proença, Abreu, Gabriella de Medeiros, Cabello, Pedro Hernan, Cabello, Giselda Maria Kalil
Published in Molecular genetics & genomic medicine (01.07.2019)
Published in Molecular genetics & genomic medicine (01.07.2019)
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Journal Article
Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease
Spitz, Mariana, Pereira, João Santos, Nicareta, Denise Hack, Abreu, Gabriella de Medeiros, Bastos, Elenice Ferreira, Seixas, Taís Leite, Pimentel, Márcia Mattos Gonçalves
Published in Parkinsonism & related disorders (01.07.2015)
Published in Parkinsonism & related disorders (01.07.2015)
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Journal Article
Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease
Spitz, Mariana, Pereira, João Santos, Nicareta, Denise Hack, Abreu, Gabriella de Medeiros, Bastos, Elenice Ferreira, Seixas, Taís Leite, Pimentel, Márcia Mattos Gonçalves
Published in Parkinsonism & related disorders (01.07.2015)
Published in Parkinsonism & related disorders (01.07.2015)
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