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Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB. Sarri C, et al. Am J Med Genet A. 2011 Nov;155A(11):2841-54. doi: 10.1002/ajmg.a.34259. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964744 Review.
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter.
Sarri C, Gyftodimou J, Avramopoulos D, Grigoriadou M, Pedersen W, Pandelia E, Pangalos C, Abazis D, Kitsos G, Vassilopoulos D, Brøndum-Nielsen K, Petersen MB. Sarri C, et al. Am J Med Genet. 1997 May 2;70(1):87-94. doi: 10.1002/(sici)1096-8628(19970502)70:1<87::aid-ajmg16>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9129747 Review.
Pure de novo partial trisomy 6p in a girl with craniosynostosis.
Varvagiannis K, Stefanidou A, Gyftodimou Y, Lord H, Williams L, Sarri C, Pandelia E, Bazopoulou-Kyrkanidou E, Noakes C, Lester T, Wilkie AO, Petersen MB. Varvagiannis K, et al. Among authors: sarri c. Am J Med Genet A. 2013 Feb;161A(2):343-51. doi: 10.1002/ajmg.a.35727. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307468
A report of pure 7p duplication syndrome and review of the literature.
Papadopoulou E, Sifakis S, Sarri C, Gyftodimou J, Liehr T, Mrasek K, Kalmanti M, Petersen MB. Papadopoulou E, et al. Among authors: sarri c. Am J Med Genet A. 2006 Dec 15;140(24):2802-6. doi: 10.1002/ajmg.a.31538. Am J Med Genet A. 2006. PMID: 17103460 Review.
41 results