• Report  

      Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11 

      Neocleous, Vassos; Yiallouros, Panayiotis K.; Tanteles, George A.; Costi, Constantina; Moutafi, Maria; Ioannou, Phivos; Patsalis, Philippos C.; Sismani, Carolina; Phylactou, Leonidas A. (Hindawi Limited, 2014)
      We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4-11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both ...
    • Article  

      Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology 

      Patsalis, Philippos C.; Sismani, Carolina; Hadjimarcou, Michael I.; Rose, Nancy C.; Stylianidou, Goula; Koukoulli, R.; Anastasiadou, Violetta C.; Constantinou-Deltas, Constantinos D.; Middleton, Lefkos T. (1997)
      The aim of this program was to investigate the patients with Mental Retardation Of Unknown Etiology (MROUE), on the island of Cyprus. The MROUE patients were examined cytogenetically for gross chromosomal abnormalities, ...
    • Article  

      Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities 

      Koufaris, Costas; Papagregoriou, Gregory N.; Kousoulidou, Ludmila; Moutafi, Maria; Tauber, Maïthé Thérèse; Jouret, Béatrice; Kieffer, Isabelle; Constantinou-Deltas, Constantinos D.; Tanteles, George A.; Anastasiadou, Violetta C.; Patsalis, Philippos C.; Sismani, Carolina (2015)
      MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, ...
    • Article  

      Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS 

      Ioannides, Marios; Papageorgiou, Elisavet A.; Keravnou, Anna; Tsaliki, Evdokia; Spyrou, Christiana; Hadjidaniel, Michael D.; Sismani, Carolina; Koumbaris, George L.; Patsalis, Philippos C. (2014)
      Background: DNA methylation is the most studied form of epigenetic regulation, a process by which chromatin composition and transcription factor binding is altered to influence tissue specific gene expression and ...
    • Article  

      Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications 

      Neofytou, Maria C.; Tsangaras, Kyriakos; Kypri, Elena; Loizides, Charalambos; Ioannides, Marios; Achilleos, Achilleas P.; Mina, Petros; Keravnou, Anna; Sismani, Carolina; Koumbaris, George L.; Patsalis, Philippos C. (2017)
      Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that sub-chromosomal ...
    • Article  

      Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions 

      Keravnou, Anna; Ioannides, Marios; Tsangaras, Kyriakos; Loizides, Charalambos; Hadjidaniel, Michael D.; Papageorgiou, Elisavet A.; Kyriakou, Skevi; Antoniou, Pavlos; Mina, Petros; Achilleos, Achilleas P.; Neofytou, Maria C.; Kypri, Elena; Sismani, Carolina; Koumbaris, George L.; Patsalis, Philippos C. (2016)
      DNA methylation is an epigenetic marker that has been shown to vary significantly across different tissues. Taking advantage of the methylation differences between placenta-derived cell-free DNA and maternal blood, several ...