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Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient.
da Fonseca ACP, Abreu GM, Zembrzuski VM, Junior MC, Carneiro JRI, Magno FCCM, Rosado EL, Nogueira Neto JF, de Cabello GMK, Cabello PH. da Fonseca ACP, et al. Diabetes Metab Syndr Obes. 2019 Feb 21;12:257-266. doi: 10.2147/DMSO.S189455. eCollection 2019. Diabetes Metab Syndr Obes. 2019. PMID: 30863132 Free PMC 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 RDS, Campos Junior M, Dos Santos Moreira A, Marques Zembrzuski V, da Fonseca ACP, Abreu GM, Cabello PH, de Cabello GMK. Martins RDS, et al. Among authors: da fonseca acp. Mol Genet Genomic Med. 2019 Jul;7(7):e00645. doi: 10.1002/mgg3.645. Epub 2019 Jun 14. Mol Genet Genomic Med. 2019. PMID: 31199594 Free PMC article.
The first case of NEUROD1-MODY reported in Latin America.
Abreu GM, Tarantino RM, Cabello PH, Zembrzuski VM, da Fonseca ACP, Rodacki M, Zajdenverg L, Campos Junior M. Abreu GM, et al. Among authors: da fonseca acp. Mol Genet Genomic Med. 2019 Dec;7(12):e989. doi: 10.1002/mgg3.989. Epub 2019 Oct 2. Mol Genet Genomic Med. 2019. PMID: 31578821 Free PMC article.
Identification of the First PAX4-MODY Family Reported in Brazil.
Abreu GM, Soares CAPD, Tarantino RM, da Fonseca ACP, de Souza RB, Pereira MFC, Cabello PH, Rodacki M, Zajdenverg L, Zembrzuski VM, Campos Junior M. Abreu GM, et al. Among authors: da fonseca acp. Diabetes Metab Syndr Obes. 2020 Jul 24;13:2623-2631. doi: 10.2147/DMSO.S256858. eCollection 2020. Diabetes Metab Syndr Obes. 2020. PMID: 32801813 Free PMC article.
Association of the MC4R rs17782313 polymorphism with plasma ghrelin, leptin, IL6 and TNFα concentrations, food intake and eating behaviors in morbidly obese women.
Magno FCCM, Guaraná HC, da Fonseca ACP, Pedrosa AP, Zembrzuski VM, Cabello PH, Cabello GMK, Carneiro JRI, Rosado EL. Magno FCCM, et al. Among authors: da fonseca acp. Eat Weight Disord. 2021 May;26(4):1079-1087. doi: 10.1007/s40519-020-01003-5. Epub 2020 Sep 11. Eat Weight Disord. 2021. PMID: 32918257
Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity.
Salum KCR, de Souza GO, Abreu GM, Campos Junior M, Kohlrausch FB, Carneiro JRI, Nogueira Neto JF, Magno FCCM, Rosado EL, Palhinha L, Maya-Monteiro CM, de Cabello GMK, Cabello PH, Bozza PT, Zembrzuski VM, da Fonseca ACP. Salum KCR, et al. Among authors: da fonseca acp. Front Genet. 2020 Dec 9;11:608840. doi: 10.3389/fgene.2020.608840. eCollection 2020. Front Genet. 2020. PMID: 33362866 Free PMC article.
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