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Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.
Kousoulidou L, Alexandrou A, Papaevripidou I, Evangelidou P, Tanteles G, Anastasiadou VC, Sismani C. Kousoulidou L, et al. Among authors: sismani c. Am J Med Genet A. 2019 Jan;179(1):134-138. doi: 10.1002/ajmg.a.60692. Epub 2018 Nov 18. Am J Med Genet A. 2019. PMID: 30450687 Free PMC article. No abstract available.
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. Among authors: sismani c. 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
MAPH: from gels to microarrays.
Patsalis PC, Kousoulidou L, Sismani C, Männik K, Kurg A. Patsalis PC, et al. Among authors: sismani c. Eur J Med Genet. 2005 Jul-Sep;48(3):241-9. doi: 10.1016/j.ejmg.2005.04.011. Eur J Med Genet. 2005. PMID: 16179220 Review.
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: sismani c. 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
75 results