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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.
Sisdelli L, Vidi AC, Moysés-Oliveira M, Di Battista A, Bortolai A, Moretti-Ferreira D, da Silva MR, Melaragno MI, Carvalheira G. Sisdelli L, et al. Among authors: di battista a. Hum Genet. 2016 Feb;135(2):185-92. doi: 10.1007/s00439-015-1622-x. Epub 2015 Dec 15. Hum Genet. 2016. PMID: 26670424
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. Among authors: di battista a. 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. Among authors: di battista a. Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14. Hum Mutat. 2018. PMID: 29193635
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes.
Moysés-Oliveira M, Di-Battista A, Zamariolli M, Meloni VA, Bragagnolo S, Christofolini DM, Steiner CE, Kosyakova N, Liehr T, Reymond A, Melaragno MI. Moysés-Oliveira M, et al. Among authors: di battista a. Eur J Hum Genet. 2019 May;27(5):760-771. doi: 10.1038/s41431-019-0341-5. Epub 2019 Jan 30. Eur J Hum Genet. 2019. PMID: 30700833 Free PMC article.
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. Among authors: di battista a. Cytogenet Genome Res. 2020;160(6):321-328. doi: 10.1159/000508820. Epub 2020 Jun 13. Cytogenet Genome Res. 2020. PMID: 32535594
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.
History of traumatic brain injury is associated with increased grey-matter loss in patients with mild cognitive impairment.
Khoury MA, Churchill NW, Di Battista A, Graham SJ, Symons S, Troyer AK, Roberts A, Kumar S, Tan B, Arnott SR, Ramirez J, Tartaglia MC, Borrie M, Pollock B, Rajji TK, Pasternak SH, Frank A, Tang-Wai DF, Scott CJM, Haddad SMH, Nanayakkara N, Orange JB, Peltsch A, Fischer CE, Munoz DG, Schweizer TA. Khoury MA, et al. Among authors: di battista a. J Neurol. 2024 May 8. doi: 10.1007/s00415-024-12369-2. Online ahead of print. J Neurol. 2024. PMID: 38717612
82 results