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Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O. Rossi E, et al. Among authors: kucinskas v. J Med Genet. 2008 Mar;45(3):147-54. doi: 10.1136/jmg.2007.054007. Epub 2007 Nov 15. J Med Genet. 2008. PMID: 18006671 Free article.
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kučinskienė ZA, Hettinger JA, Sismani C, Patsalis PC, Kučinskas V. Kasnauskiene J, et al. Among authors: kucinskas v. Am J Med Genet A. 2011 Oct;155A(10):2501-7. doi: 10.1002/ajmg.a.34179. Am J Med Genet A. 2011. PMID: 21998857
159 results