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Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.
Patsalis PC, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Galla-Voumvouraki A, Kosmaidou Z, Hadjiathanasiou CG, McElreavey K. Patsalis PC, et al. Am J Med Genet A. 2005 Jun 1;135(2):145-9. doi: 10.1002/ajmg.a.30712. Am J Med Genet A. 2005. PMID: 15880425
Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis.
Velissariou V, Sismani C, Christopoulou S, Kaminopetros P, Hatzaki A, Evangelidou P, Koumbaris G, Bartsocas CS, Stylianidou G, Skordis N, Diakoumakos A, Patsalis PC. Velissariou V, et al. Among authors: patsalis pc. Eur J Med Genet. 2007 Jul-Aug;50(4):291-300. doi: 10.1016/j.ejmg.2007.04.004. Epub 2007 May 18. Eur J Med Genet. 2007. PMID: 17584536
Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH.
Kitsiou-Tzeli S, Sismani C, Karkaletsi M, Florentin L, Anastassiou A, Koumbaris G, Evangelidou P, Agapitos E, Patsalis PC, Velissariou V. Kitsiou-Tzeli S, et al. Among authors: patsalis pc. Prenat Diagn. 2008 Aug;28(8):770-2. doi: 10.1002/pd.2049. Prenat Diagn. 2008. PMID: 18615545 No abstract available.
128 results