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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: meloni va. 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.
Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.
Christofolini DM, Meloni VA, Ramos MA, Oliveira MM, de Mello CB, Pellegrino R, Takeno SS, Melaragno MI. Christofolini DM, et al. Among authors: meloni va. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):823-8. doi: 10.1002/ajmg.b.32089. Epub 2012 Aug 22. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22911893
Ring chromosome 10: report on two patients and review of the literature.
Guilherme RS, Kim CA, Alonso LG, Honjo RS, Meloni VA, Christofolini DM, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: meloni va. J Appl Genet. 2013 Feb;54(1):35-41. doi: 10.1007/s13353-012-0128-7. Epub 2012 Dec 18. J Appl Genet. 2013. PMID: 23247912 Review.
Single-nucleotide polymorphism array-based characterization of ring chromosome 18.
Spreiz A, Guilherme RS, Castellan C, Green A, Rittinger O, Wellek B, Utermann B, Erdel M, Fauth C, Haberlandt E, Kim CA, Kulikowski LD, Meloni VA, Utermann G, Zschocke J, Melaragno MI, Kotzot D. Spreiz A, et al. Among authors: meloni va. J Pediatr. 2013 Oct;163(4):1174-8.e3. doi: 10.1016/j.jpeds.2013.06.005. Epub 2013 Jul 19. J Pediatr. 2013. PMID: 23876976
Duplication 9p and their implication to phenotype.
Guilherme RS, Meloni VA, Perez AB, Pilla AL, de Ramos MA, Dantas AG, Takeno SS, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: meloni va. BMC Med Genet. 2014 Dec 20;15:142. doi: 10.1186/s12881-014-0142-1. BMC Med Genet. 2014. PMID: 25526829 Free PMC article.
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. Among authors: meloni va. 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.
26 results