CV Lattes
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Universidade de São Paulo (USP). Faculdade de Medicina (FM) (Institutional affiliation from the last research proposal) Birthplace: Brazil
graduation at Medicina from Universidade Federal do Rio Grande do Sul (2002) and doctorate at Endocrinology from Universidade de São Paulo (2015). Has experience in Medicine, acting on the following subjects: central precocious puberty, puberdade precoce central, silver-russell syndrome, copy number variants and mkrn3. (Source: Lattes Curriculum)
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Distinct studies have shown the participation of (epi)genetic mechanisms in the human pubertal control. The recognition of genetic causes of central precocious puberty (CPP) have increased, especially with the identification of mutations in two imprinted genes (MKRN3 and DLK1) in familial cases of non-syndromic CPP. Both genes are located at critical regions of (epi)genetic syndromes know…
Recently, monogenic causes of Central Precocious Puberty (CPP) have been reported, increasing our knowledge about the reproductive axis modulation. Among them, it is noted the discovery of inactivating mutations in two imprinted genes, highlighting the involvement of epigenetic mechanisms in pubertal control: MKRN3, accounting for 33-45% of familial CPP cases; and DLK1, with a complex def…
| 1 / 1 | Completed research grants |
| 2 / 2 | Completed scholarships in Brazil |
| 3 / 3 | All research grants and scholarships |
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