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Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT. Sobreira N, et al. Among authors: melaragno mi. Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7. Eur J Hum Genet. 2017. PMID: 29255178 Free PMC article.
A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Berenguer M, Tingaud-Sequeira A, Colovati M, Melaragno MI, Bragagnolo S, Perez ABA, Arveiler B, Lacombe D, Rooryck C. Berenguer M, et al. Among authors: melaragno mi. Eur J Hum Genet. 2017 Sep;25(9):1083-1086. doi: 10.1038/ejhg.2017.101. Epub 2017 Jun 14. Eur J Hum Genet. 2017. PMID: 28612832 Free PMC article.
Clinical and cytogenomic findings in OAV spectrum.
Bragagnolo S, Colovati MES, Souza MZ, Dantas AG, F de Soares MF, Melaragno MI, Perez AB. Bragagnolo S, et al. Among authors: melaragno mi. Am J Med Genet A. 2018 Mar;176(3):638-648. doi: 10.1002/ajmg.a.38576. Epub 2018 Jan 25. Am J Med Genet A. 2018. PMID: 29368383
First report of a small supernumerary der(8;14) marker chromosome.
Guilherme RS, Dutra AR, Perez AB, Takeno SS, Oliveira MM, Kulikowski LD, Klein E, Hamid AB, Liehr T, Melaragno MI. Guilherme RS, et al. Among authors: melaragno mi. Cytogenet Genome Res. 2013;139(4):284-8. doi: 10.1159/000348743. Epub 2013 Mar 23. Cytogenet Genome Res. 2013. PMID: 23548553
130 results