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Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations.
Di-Battista A, Favilla BP, Zamariolli M, Nunes N, Defelicibus A, Armelin-Correa L, da Silva IT, Reymond A, Moyses-Oliveira M, Melaragno MI. Di-Battista A, et al. Epigenetics Chromatin. 2023 May 19;16(1):19. doi: 10.1186/s13072-023-00493-8. Epigenetics Chromatin. 2023. PMID: 37202802 Free PMC article.
X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
Moysés-Oliveira M, Guilherme RS, Meloni VA, Di Battista A, de Mello CB, Bragagnolo S, Moretti-Ferreira D, Kosyakova N, Liehr T, Carvalheira GM, Melaragno MI. Moysés-Oliveira M, et al. Am J Med Genet B Neuropsychiatr Genet. 2015 Dec;168(8):669-77. doi: 10.1002/ajmg.b.32355. Epub 2015 Aug 20. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26290131
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A. Moysés-Oliveira M, et al. Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14. Hum Mutat. 2018. PMID: 29193635
Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation.
Zamariolli M, Di-Battista A, Moysés-Oliveira M, de Mello CB, de Paula Ramos MA, Liehr T, Melaragno MI. Zamariolli M, et al. Cytogenet Genome Res. 2020;160(6):321-328. doi: 10.1159/000508820. Epub 2020 Jun 13. Cytogenet Genome Res. 2020. PMID: 32535594
85 results