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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: campos junior m. 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: campos junior m. 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: campos junior m. 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.
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: campos junior m. Front Genet. 2020 Dec 9;11:608840. doi: 10.3389/fgene.2020.608840. eCollection 2020. Front Genet. 2020. PMID: 33362866 Free PMC article.
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. Among authors: campos junior m. 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.
PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes.
Abreu GM Miss, Tarantino RM, da Fonseca ACP, de Souza RB, Soares CAPD, Cabello PH, Rodacki M, Zajdenverg L, Zembrzuski VM, Campos Junior M. Abreu GM Miss, et al. Among authors: campos junior m. Eur J Med Genet. 2021 May;64(5):104194. doi: 10.1016/j.ejmg.2021.104194. Epub 2021 Mar 18. Eur J Med Genet. 2021. PMID: 33746035
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: campos junior m. 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.
25 results