Found: 8

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

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.608840
    By:
    • 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;
    • Cabello, Giselda Maria Kalil de;
    • Cabello, Pedro Hernán;
    • Bozza, Patrícia Torres;
    • Zembrzuski, Verônica Marques;
    • da Fonseca, Ana Carolina Proença
    Publication type:
    Article

  • The first case of NEUROD1‐MODY reported in Latin America.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.989
    By:
    • Abreu, Gabriella de Medeiros;
    • Tarantino, Roberta Magalhães;
    • Cabello, Pedro Hernan;
    • Zembrzuski, Verônica Marques;
    • Fonseca, Ana Carolina Proença;
    • Rodacki, Melanie;
    • Zajdenverg, Lenita;
    • Campos Junior, Mário
    Publication type:
    Article

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

    Published in:
    Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2021, v. 14, p. 11, doi. 10.2147/DMSO.S267202
    By:
    • Fonseca, Ana Carolina Proença da;
    • Abreu, Gabriella de Medeiros;
    • Palhinha, Lohanna;
    • Zembrzuski, Verônica Marques;
    • Junior, Mario Campos;
    • Carneiro, João Regis Ivar;
    • Neto, José Firmino Nogueira;
    • Magno, Fernanda Cristina C Mattos;
    • Rosado, Eliane Lopes;
    • Maya-Monteiro, Clarissa Menezes;
    • Cabello, Giselda Maria Kalil de;
    • Cabello, Pedro Hernán;
    • Bozza, Patricia Torres
    Publication type:
    Article

  • Identification of the First PAX4-MODY Family Reported in Brazil.

    Published in:
    Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2020, v. 13, p. 2623, doi. 10.2147/DMSO.S256858
    By:
    • Abreu, Gabriella de Medeiros;
    • Soares, Camila de Almeida Pereira Dias;
    • Tarantino, Roberta Magalhães;
    • Fonseca, Ana Carolina Proença da;
    • Souza, Ritiele Bastos de;
    • Pereira, Maria de Fátima Carvalho;
    • Cabello, Pedro Hernan;
    • Rodacki, Melanie;
    • Zajdenverg, Lenita;
    • Zembrzuski, Verônica Marques;
    • Junior, Mário Campos
    Publication type:
    Article

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

    Published in:
    Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2019, v. 12, p. 257, doi. 10.2147/DMSO.S189455
    By:
    • 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;
    • Neto, José Firmino Nogueira;
    • Cabello, Giselda Maria Kalil de;
    • Cabello, Pedro Hernán
    Publication type:
    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.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.645
    By:
    • 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
    Publication type:
    Article

  • Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.

    Published in:
    Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.827325
    By:
    • 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
    Publication type:
    Article

  • Genetic variants in DBC1, SIRT1, UCP2 and ADRB2 as potential biomarkers for severe obesity and metabolic complications.

    Published in:
    Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1363417
    By:
    • Proença da Fonseca, Ana Carolina;
    • Sthephanie da SilvaAssis, Izadora;
    • Rodrigues Salum, Kaio Cezar;
    • Palhinha, Lohanna;
    • de Medeiros Abreu, Gabriella;
    • Marques Zembrzuski, Verônica;
    • Campos Junior, Mario;
    • Firmino Nogueira-Neto, José;
    • Cambraia, Amanda;
    • Ferreira Souza Junior, Mauro Lucio;
    • Menezes Maya-Monteiro, Clarissa;
    • Hernán Cabello, Pedro;
    • Torres Bozza, Patrícia;
    • Ivar Carneiro, João Regis
    Publication type:
    Article