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Page 1
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. 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
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
Zamariolli M, Colovati M, Moysés-Oliveira M, Nunes N, Caires Dos Santos L, Alvarez Perez AB, Bragagnolo S, Melaragno MI. Zamariolli M, et al. Among authors: bragagnolo s. Mol Genet Genomic Med. 2019 Oct;7(10):e00959. doi: 10.1002/mgg3.959. Epub 2019 Aug 30. Mol Genet Genomic Med. 2019. PMID: 31469246 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: bragagnolo s. 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.
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: bragagnolo s. 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.
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: bragagnolo s. 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
Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.
Bellucco FT, Rodrigues de Oliveira-Júnior H, Santos Guilherme R, Bragagnolo S, Alvarez Perez AB, Ayres Meloni V, Melaragno MI. Bellucco FT, et al. Among authors: bragagnolo s. Mol Syndromol. 2019 May;10(3):139-146. doi: 10.1159/000497402. Epub 2019 Mar 6. Mol Syndromol. 2019. PMID: 31191202 Free PMC article.
13 results