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Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.
Seraphim CE, Canton APM, Montenegro L, Piovesan MR, Macedo DB, Cunha M, Guimaraes A, Ramos CO, Benedetti AFF, de Castro Leal A, Gagliardi PC, Antonini SR, Gryngarten M, Arcari AJ, Abreu AP, Kaiser UB, Soriano-Guillén L, Escribano-Muñoz A, Corripio R, Labarta JI, Travieso-Suárez L, Ortiz-Cabrera NV, Argente J, Mendonca BB, Brito VN, Latronico AC. Seraphim CE, et al. Among authors: macedo db. J Clin Endocrinol Metab. 2021 Mar 25;106(4):1041-1050. doi: 10.1210/clinem/dgaa955. J Clin Endocrinol Metab. 2021. PMID: 33383582 Free PMC article.
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB. Abreu AP, et al. Among authors: macedo db. N Engl J Med. 2013 Jun 27;368(26):2467-75. doi: 10.1056/NEJMoa1302160. Epub 2013 Jun 5. N Engl J Med. 2013. PMID: 23738509 Free PMC article.
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE Jr, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. Macedo DB, et al. J Clin Endocrinol Metab. 2014 Jun;99(6):E1097-103. doi: 10.1210/jc.2013-3126. Epub 2014 Mar 14. J Clin Endocrinol Metab. 2014. PMID: 24628548 Free PMC article.
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
Bessa DS, Macedo DB, Brito VN, França MM, Montenegro LR, Cunha-Silva M, Silveira LG, Hummel T, Bergadá I, Braslavsky D, Abreu AP, Dauber A, Mendonca BB, Kaiser UB, Latronico AC. Bessa DS, et al. Among authors: macedo db. Neuroendocrinology. 2017;105(1):17-25. doi: 10.1159/000446963. Epub 2016 May 26. Neuroendocrinology. 2017. PMID: 27225315 Free PMC article.
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.
Dauber A, Cunha-Silva M, Macedo DB, Brito VN, Abreu AP, Roberts SA, Montenegro LR, Andrew M, Kirby A, Weirauch MT, Labilloy G, Bessa DS, Carroll RS, Jacobs DC, Chappell PE, Mendonca BB, Haig D, Kaiser UB, Latronico AC. Dauber A, et al. Among authors: macedo db. J Clin Endocrinol Metab. 2017 May 1;102(5):1557-1567. doi: 10.1210/jc.2016-3677. J Clin Endocrinol Metab. 2017. PMID: 28324015 Free PMC article.
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