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2018 1
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2023 5
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Page 1
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG, Piana MP, Brauner R, Espino-Aguilar R, Escribano-Muñoz A, Paganoni A, Read JE, Korbonits M, Seraphim CE, Costa SS, Krepischi AC, Jorge AAL, David A, Kaisinger LR, Ong KK, Perry JRB, Abreu AP, Kaiser UB, Argente J, Mendonca BB, Brito VN, Howard SR, Latronico AC. Canton APM, et al. Lancet Diabetes Endocrinol. 2023 Aug;11(8):545-554. doi: 10.1016/S2213-8587(23)00131-6. Epub 2023 Jun 26. Lancet Diabetes Endocrinol. 2023. PMID: 37385287 Free PMC article.
Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
Magnotto JC, Mancini A, Bird K, Montenegro L, Tütüncüler F, Pereira SA, Simas V, Garcia L, Roberts SA, Macedo D, Magnuson M, Gagliardi P, Mauras N, Witchel SF, Carroll RS, Latronico AC, Kaiser UB, Abreu AP. Magnotto JC, et al. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1646-1656. doi: 10.1210/clinem/dgad151. J Clin Endocrinol Metab. 2023. PMID: 36916482 Free PMC article.
Genetics of pubertal timing.
Mancini A, Magnotto JC, Abreu AP. Mancini A, et al. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101618. doi: 10.1016/j.beem.2022.101618. Epub 2022 Feb 5. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 35183440 Free PMC article. Review.
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. 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.
13 results