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Page 1
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: zamariolli m. 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: zamariolli m. 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.
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. 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.
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
Mechanisms of structural chromosomal rearrangement formation.
Burssed B, Zamariolli M, Bellucco FT, Melaragno MI. Burssed B, et al. Among authors: zamariolli m. Mol Cytogenet. 2022 Jun 14;15(1):23. doi: 10.1186/s13039-022-00600-6. Mol Cytogenet. 2022. PMID: 35701783 Free PMC article. Review.
15 results