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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: carvalheira g. 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. 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
Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations.
Moysés-Oliveira M, Guilherme Rdos S, Dantas AG, Ueta R, Perez AB, Haidar M, Canonaco R, Meloni VA, Kosyakova N, Liehr T, Carvalheira GM, Melaragno MI. Moysés-Oliveira M, et al. Fertil Steril. 2015 May;103(5):1289-96.e2. doi: 10.1016/j.fertnstert.2015.01.030. Epub 2015 Mar 4. Fertil Steril. 2015. PMID: 25747126 Free article.
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: carvalheira g. Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14. Hum Mutat. 2018. PMID: 29193635
The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene.
Carvalheira G, Malinverni AM, Moysés-Oliveira M, Ueta R, Cardili L, Monteagudo P, Mathez ALG, Verreschi IT, Maluf MA, Shida MEF, Leite MTC, Mazzotti D, Melaragno MI, Dias-da-Silva MR. Carvalheira G, et al. J Endocr Soc. 2019 Aug 28;3(11):2107-2113. doi: 10.1210/js.2019-00241. eCollection 2019 Nov 1. J Endocr Soc. 2019. PMID: 31687637 Free PMC article.
23 results