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Makorin RING finger protein 3 and central precocious puberty.
Maione L, Naulé L, Kaiser UB. Maione L, et al. Among authors: kaiser ub. Curr Opin Endocr Metab Res. 2020 Oct;14:152-159. doi: 10.1016/j.coemr.2020.08.003. Epub 2020 Aug 26. Curr Opin Endocr Metab Res. 2020. PMID: 32984644 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: kaiser ub. 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. Among authors: kaiser ub. 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.
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: kaiser ub. 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.
MKRN3 Mutations in Central Precocious Puberty: A Systematic Review and Meta-Analysis.
Valadares LP, Meireles CG, De Toledo IP, Santarem de Oliveira R, Gonçalves de Castro LC, Abreu AP, Carroll RS, Latronico AC, Kaiser UB, Guerra ENS, Lofrano-Porto A. Valadares LP, et al. Among authors: kaiser ub. J Endocr Soc. 2019 Mar 25;3(5):979-995. doi: 10.1210/js.2019-00041. eCollection 2019 May 1. J Endocr Soc. 2019. PMID: 31041429 Free PMC article.
DLK1, Notch Signaling and the Timing of Puberty.
Macedo DB, Kaiser UB. Macedo DB, et al. Among authors: kaiser ub. Semin Reprod Med. 2019 Jul;37(4):174-181. doi: 10.1055/s-0039-3400963. Epub 2020 Jan 23. Semin Reprod Med. 2019. PMID: 31972862 Free PMC article. Review.
204 results