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Incorporation of 5-ethynyl-2'-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements.
Hum Genet. 2016 Feb;135(2):185-92. doi: 10.1007/s00439-015-1622-x. Epub 2015 Dec 15.
Hum Genet. 2016.
PMID: 26670424
Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern.
Simonetti L, Ferreira LGA, Vidi AC, de Souza JS, Kunii IS, Melaragno MI, de Mello CB, Carvalheira G, Dias da Silva MR.
Simonetti L, et al. Among authors: vidi ac.
Front Genet. 2021 Sep 20;12:724625. doi: 10.3389/fgene.2021.724625. eCollection 2021.
Front Genet. 2021.
PMID: 34616429
Free PMC article.
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Novel lincRNA Susceptibility Gene and Its Role in Etiopathogenesis of Thyrotoxic Periodic Paralysis.
Melo MCC, de Souza JS, Kizys MML, Vidi AC, Dorta HS, Kunii IS, Giannocco G, Carvalheira G, Dias-da-Silva MR.
Melo MCC, et al. Among authors: vidi ac.
J Endocr Soc. 2017 Feb 28;1(7):809-815. doi: 10.1210/js.2017-00015. eCollection 2017 Jul 1.
J Endocr Soc. 2017.
PMID: 29264532
Free PMC article.
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Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.
Paninka RM, Mazzotti DR, Kizys MM, Vidi AC, Rodrigues H, Silva SP, Kunii IS, Furuzawa GK, Arcisio-Miranda M, Dias-da-Silva MR.
Paninka RM, et al. Among authors: vidi ac.
Mol Genet Genomics. 2016 Aug;291(4):1535-44. doi: 10.1007/s00438-016-1185-0. Epub 2016 Mar 23.
Mol Genet Genomics. 2016.
PMID: 27008341
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