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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
Dynamics of nonstructural glycoprotein‐1 in dengue patients presenting with different clinical manifestations from 1986 to 2012 in Rio de Janeiro, Brazil.
Published in:
Journal of Medical Virology, 2019, v. 91, n. 4, p. 555, doi. 10.1002/jmv.25356
By:
- Gonçalves, Bianca De Santis;
- Horta, Marco Aurélio Pereira;
- Acero, Pedro Hernan Cabello;
- Bochner, Rosany;
- Queiroz Lima, Monique da Rocha;
- Araújo, Eliane Saraiva;
- Sampaio, Simone Alves;
- Nogueira, Rita Maria Ribeiro;
- Filippis, Ana Maria Bispo
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
Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 12, p. 810, doi. 10.1038/jhg.2012.125
By:
- Agostinho, Luciana de A;
- Rocha, Catielly F;
- Medina-Acosta, Enrique;
- Barboza, Hazel N;
- da Silva, Antônio F Alves;
- Pereira, Simão P F;
- da Silva, Iane dos Santos;
- Paradela, Eduardo R;
- Figueiredo, André L dos S;
- Nogueira, Eduardo de M;
- Alvarenga, Regina M P;
- Hernan Cabello, Pedro;
- dos Santos, Suely R;
- Paiva, Carmen L A
Publication type:
Article
Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 12, p. 796, doi. 10.1038/jhg.2012.120
By:
- Agostinho, Luciana de A;
- Rocha, Catielly F;
- Medina-Acosta, Enrique;
- Barboza, Hazel N;
- da Silva, Antônio F Alves;
- Pereira, Simão P F;
- da Silva, Iane dos Santos;
- Paradela, Eduardo R;
- Figueiredo, André L dos S;
- Nogueira, Eduardo de M;
- Alvarenga, Regina M P;
- Hernan Cabello, Pedro;
- dos Santos, Suely R;
- Paiva, Carmen L A
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
The association of the fat mass and obesity-associated gene (FTO) rs9939609 polymorphism and the severe obesity in a Brazilian population.
Published in:
Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2019, v. 12, p. 667, doi. 10.2147/DMSO.S199542
By:
- Fonseca, Ana Carolina Proença da;
- Abreu, Gabriella Medeiros;
- Zembrzuski, Verônica Marques;
- Junior, Mario Campos;
- Carneiro, João Regis Ivar;
- Neto, José Firmino Nogueira;
- Cabello, Giselda Maria Kalil;
- Cabello, Pedro Hernán
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
Fibromodulin Gene Variants (FMOD) as Potential Biomarkers for Prostate Cancer and Benign Prostatic Hyperplasia.
Published in:
Disease Markers, 2022, p. 1, doi. 10.1155/2022/5215247
By:
- Silva, Tamara;
- Gomes, Caroliny Pinto;
- Voigt, Danielle Dutra;
- de Souza, Ritiele Bastos;
- Medeiros, Karoline;
- Cosentino, Nicole Lima;
- Fonseca, Ana Carolina Proença;
- Tilli, Tatiana Martins;
- Loayza, Enrique Antonio Covarrubias;
- Ramos, Vivianne Galante;
- Acero, Pedro Hernán Cabello
Publication type:
Article
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy.
Published in:
Skeletal Muscle, 2015, v. 5, p. 1, doi. 10.1186/s13395-015-0066-2
By:
- Pinto-Mariz, Fernanda;
- Rodrigues Carvalho, Luciana;
- De Queiroz Campos Araujo, Alexandra Prufer;
- De Mello, Wallace;
- Gonçalves Ribeiro, Márcia;
- Soares Alves Cunha, Maria Do Carmo;
- Cabello, Pedro Hernan;
- Riederer, Ingo;
- Negroni, Elisa;
- Desguerre, Isabelle;
- Veras, Mariana;
- Yada, Erica;
- Allenbach, Yves;
- Benveniste, Olivier;
- Voit, Thomas;
- Mouly, Vincent;
- Silva-Barbosa, Suse Dayse;
- Butler-Browne, Gillian;
- Savino, Wilson
Publication type:
Article
Genetic Variants in the Activation of the Brown-Like Adipocyte Pathway and the Risk for Severe Obesity.
Published in:
Obesity Facts: The European Journal of Obesity, 2020, v. 13, n. 2, p. 130, doi. 10.1159/000505666
By:
- da Fonseca, Ana Carolina Proença;
- da Fonseca, Guilherme Proença;
- Marchesini, Bruna;
- Voigt, Danielle Dutra;
- Campos Junior, Mario;
- Zembrzuski, Verônica Marques;
- Carneiro, João Regis Ivar;
- Nogueira Neto, José Firmino;
- Cabello, Pedro Hernan;
- Cabello, Giselda Maria Kalil
Publication type:
Article
SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.
Published in:
Eating & Weight Disorders, 2022, v. 27, n. 8, p. 3665, doi. 10.1007/s40519-022-01506-3
By:
- da Fonseca, Ana Carolina Proença;
- Assis, Izadora Sthephanie Silva;
- Salum, Kaio Cezar Rodrigues;
- Palhinha, Lohanna;
- Abreu, Gabriella Medeiros;
- Zembrzuski, Verônica Marques;
- Campos Junior, Mario;
- Nogueira Neto, José Firmino;
- Mattos, Fernanda Cristina C.;
- Cambraia, Amanda;
- Rosado, Eliane Lopes;
- Maya-Monteiro, Clarissa Menezes;
- Cabello, Pedro Hernán;
- Carneiro, João Regis Ivar;
- Bozza, Patrícia T.
Publication type:
Article
Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.
Published in:
2021
By:
- da Fonseca, Ana Carolina Proença;
- Abreu, Gabriella Medeiros;
- Zembrzuski, Verônica Marques;
- Campos Junior, Mario;
- Carneiro, João Regis Ivar;
- Nogueira Neto, José Firmino;
- Magno, Fernanda Cristina C. Mattos;
- Rosado, Eliane Lopes;
- Bozza, Patrícia Torres;
- de Cabello, Giselda Maria Kalil;
- Cabello, Pedro Hernán
Publication type:
journal article
Association of the MC4R rs17782313 polymorphism with plasma ghrelin, leptin, IL6 and TNFα concentrations, food intake and eating behaviors in morbidly obese women.
Published in:
Eating & Weight Disorders, 2021, v. 26, n. 4, p. 1079, doi. 10.1007/s40519-020-01003-5
By:
- Magno, Fernanda Cristina Carvalho Mattos;
- Guaraná, Helena Chrispim;
- da Fonseca, Ana Carolina Proença;
- Pedrosa, Aline Pereira;
- Zembrzuski, Verônica Marques;
- Cabello, Pedro Hernan;
- Cabello, Giselda Maria Kalil;
- Carneiro, João Régis Ivar;
- Rosado, Eliane Lopes
Publication type:
Article
Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report.
Published in:
BMC Research Notes, 2014, v. 7, n. 1, p. 583, doi. 10.1186/1756-0500-7-583
By:
- da Silva Martins, Raisa;
- Proença Fonseca, Ana Carolina;
- Samudio Acosta, Franklyn Enrique;
- Folescu, Tania Wrobel;
- Shinzato Higa, Laurinda Yoko;
- Sad, Izabela Rocha;
- de Miranda Chaves, Célia Regina Moutinho;
- Cabello, Pedro Hernan;
- Kalil Cabello, Giselda Maria
Publication type:
Article
Association of IL-10, IL-4, and IL-28B gene polymorphisms with spontaneous clearance of hepatitis C virus in a population from Rio de Janeiro.
Published in:
BMC Research Notes, 2012, v. 5, n. 1, p. 508, doi. 10.1186/1756-0500-5-508
By:
- Antonio Ramos, Juliene;
- Silva, Rosane;
- Hoffmann, Luísa;
- Araújo Ramos, Ana Lucia;
- Hernan Cabello, Pedro;
- Turán Péter Ürményi, Turán;
- Alves Villella-Nogueira, Cristiane;
- Lewis-Ximenez, Lia;
- Rondinelli, Edson
Publication type:
Article
Polymorphisms upstream of the melanocortin-1 receptor coding region are associated with human pigmentation variation in a Brazilian population.
Published in:
American Journal of Human Biology, 2012, v. 24, n. 6, p. 853, doi. 10.1002/ajhb.22301
By:
- Neitzke-Montinelli, Vanessa;
- Urmenyi, Turan P.;
- Rondinelli, Edson;
- Cabello, Pedro Hernan;
- Silva, Rosane;
- Moura-Neto, Rodrigo S.
Publication type:
Article
p.Q223R leptin receptor polymorphism associated with obesity in Brazilian multiethnic subjects.
Published in:
American Journal of Human Biology, 2006, v. 18, n. 4, p. 448, doi. 10.1002/ajhb.20519
By:
- Duarte, Stenio Fernando Pimentel;
- Francischetti, Emílio Antonio;
- Genelhu-Abreu, Virgínia;
- Barroso, Sergio Girão;
- Braga, José Uéleres;
- Cabello, Pedro Hernan;
- Pimentel, Márcia Mattos Gonçalves
Publication type:
Article
Frequency of the major histocompatibility complex Mamu-A*01 allele in a closed breeding colony of rhesus monkey ( Macaca mulatta) from Brazil.
Published in:
Journal of Medical Primatology, 2009, v. 38, n. 1, p. 39, doi. 10.1111/j.1600-0684.2008.00301.x
By:
- Andrade, Márcia Cristina Ribeiro;
- Leite, José Paulo Gagliardi;
- Cabello, Pedro Hernan
Publication type:
Article
TGF-β Polymorphisms Are a Risk Factor for Chagas Disease.
Published in:
Disease Markers, 2018, p. 1, doi. 10.1155/2018/4579198
By:
- Ferreira, Roberto Rodrigues;
- Madeira, Fabiana da Silva;
- Alves, Gabriel Farias;
- Chambela, Mayara da Costa;
- Curvo, Eduardo de Oliveira Vaz;
- Moreira, Aline dos Santos;
- Almeida de Sá, Renata;
- Mendonça-Lima, Leila;
- Cabello, Pedro Hernan;
- Bailly, Sabine;
- Feige, Jean-Jacques;
- Araujo-Jorge, Tania Cremonini;
- Saraiva, Roberto Magalhães;
- Waghabi, Mariana Caldas
Publication type:
Article
Adiponectin, Retinoic Acid Receptor Responder 2, and Peroxisome Proliferator-Activated Receptor-γ Coativator-1 Genes and the Risk for Obesity.
Published in:
Disease Markers, 2017, p. 1, doi. 10.1155/2017/5289120
By:
- Fonseca, Ana Carolina Proença da;
- 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
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
Human N-acetyltransferase 2 (NAT2) gene variability in Brazilian populations from different geographical areas.
Published in:
Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1278720
By:
- Lopes, Márcia Quinhones P.;
- Teixeira, Raquel Lima F.;
- Cabello, Pedro Hernan;
- Nery, José Augusto C.;
- Sales, Anna Maria;
- Nahn J. R., Edilbert Pellegrini;
- Moreira, Marilda Vieira;
- Rosen Stahlke, Ewalda Von;
- Possuelo, Lia Gonçalves;
- Rossetti, Maria Lucia R.;
- Rabahi, Marcelo F.;
- Silva, Luciana F. M.;
- Leme, Patrícia Almeida;
- Woods, William John;
- Nobre, Mauricio Lisboa;
- de Oliveira, Maria Leide Wan-Del-Rey;
- Narahashi, Kazuê;
- Cavalcanti, Milde;
- Suffys, Philip Noel;
- Boukouvala, Sotiria
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
Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.
Published in:
Disease Markers, 2021, p. 1, doi. 10.1155/2021/9812074
By:
- Cambraia, Amanda;
- Junior, Mario Campos;
- Zembrzuski, Verônica Marques;
- Junqueira, Ricardo Magrani;
- Cabello, Pedro Hernán;
- de Cabello, Giselda Maria Kalil
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

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