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A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity.
da Fonseca ACP, Abreu GM, Palhinha L, Zembrzuski VM, Campos Junior M, Carneiro JRI, Nogueira Neto JF, Magno FCCM, Rosado EL, Maya-Monteiro CM, de Cabello GMK, Cabello PH, Bozza PT. da Fonseca ACP, et al. Diabetes Metab Syndr Obes. 2021 Jan 6;14:11-22. doi: 10.2147/DMSO.S267202. eCollection 2021. Diabetes Metab Syndr Obes. 2021. PMID: 33442278 Free PMC article.
When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.
Salum KCR, Rolando JM, Zembrzuski VM, Carneiro JRI, Mello CB, Maya-Monteiro CM, Bozza PT, Kohlrausch FB, da Fonseca ACP. Salum KCR, et al. Among authors: da fonseca acp. Front Endocrinol (Lausanne). 2021 Aug 24;12:722441. doi: 10.3389/fendo.2021.722441. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34504472 Free PMC article. Review.
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.
Abreu GM, Tarantino RM, da Fonseca ACP, Andrade JRFO, de Souza RB, Soares CAPD, Cambraia A, Cabello PH, Rodacki M, Zajdenverg L, Zembrzuski VM, Campos Junior M. Abreu GM, et al. Among authors: da fonseca acp. Front Endocrinol (Lausanne). 2022 May 3;13:827325. doi: 10.3389/fendo.2022.827325. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35592779 Free PMC article.
SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.
da Fonseca ACP, Assis ISS, Salum KCR, Palhinha L, Abreu GM, Zembrzuski VM, Campos Junior M, Nogueira Neto JF, Mattos FCC, Cambraia A, Rosado EL, Maya-Monteiro CM, Cabello PH, Carneiro JRI, Bozza PT. da Fonseca ACP, et al. Eat Weight Disord. 2022 Dec;27(8):3665-3674. doi: 10.1007/s40519-022-01506-3. Epub 2022 Nov 27. Eat Weight Disord. 2022. PMID: 36436143
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.
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.
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