Browsing by Author "Patsalis, Philippos C."
Now showing items 1-17 of 17
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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 ...
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Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD)
Christodoulou, Kyproula; Tsingis, Marios; Stavrou, Christoforos V.; Eleftheriou, Andri; Papapavlou, Petros; Patsalis, Philippos C.; Ioannou, Panayiotis A.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1998)There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease, ...
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Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene
Constantinou-Deltas, Constantinos D.; Bashiardes, Evy; Patsalis, Philippos C.; Hadjimarcou, Michael I.; Kroisel, P. M.; Ioannou, Petros A. 1953-; Roses, A. D.; Lee, J. E. (1996)Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to ...
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The cypriot and Iranian National Mutation Frequency Databases.
Kleanthous, Marios; Patsalis, Philippos C.; Drousiotou, Anthi; Motazacker, M.; Christodoulou, Kyproula; Cariolou, Marios A.; Baysal, E.; Khrizi, K.; Moghimi, B.; Pourfarzad, F.; van Baal, S.; Constantinou-Deltas, Constantinos D.; Najmabadi, H.; Patrinos, G. P. (2006)The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the ...
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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, ...
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Erratum: Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus (American Journal Medical Genetics (1996) 64 (234-238))
Syrrou, Maria; Patsalis, Philippos C.; Georgiou, Ioannis A.; Hadjimarcou, Michael I.; Constantinou-Deltas, Constantinos D.; Pagoulatos, G. (1996)
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Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the hellenic population of Greece and Cyprus
Syrrou, Maria; Patsalis, Philippos C.; Georgiou, Ioannis A.; Hadjimarcou, Michael I.; Constantinou-Deltas, Constantinos D.; Pagoulatos, G. (1996)The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a ...
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Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21
Papageorgiou, Elisavet A.; Karagrigoriou, Alex; Tsaliki, Evdokia; Velissariou, Voula; Carter, N. P.; Patsalis, Philippos C. (2011)
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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, ...
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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 ...
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Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1
Koptides, Michael; Constantinides, Rolandos; Kyriakides, George K.; Hadjigavriel, Michalis; Patsalis, Philippos C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1998)Loss of heterozygosity (LOH) is a molecular phenomenon that denotes the loss of one of the two alleles at a specific locus. It is frequently associated with tumour suppressor genes in various cancers and also with ...
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Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1
Koptides, M.; Constantinides, R.; Kyriakides, George K.; Hadjigavriel, Michael; Patsalis, Philippos C.; Pierides, A.; Deltas, Constantinos (1998)Loss of heterozygosity (LOH) is a molecular phenomenon that denotes the loss of one of the two alleles at a specific locus. It is frequently associated with tumour suppressor genes in various cancers and also with ...
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MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21
Tsaliki, Evdokia; Papageorgiou, Elisavet A.; Spyrou, Christiana; Koumbaris, George L.; Kypri, Elena; Kyriakou, Skevi; Sotiriou, Chrysovalanto; Touvana, Evi; Keravnou, Anna; Karagrigoriou, Alex; Lamnissou, Klea; Velissariou, Voula; Patsalis, Philippos C. (2012)Objective: To reevaluate the efficiency of the 12 differentially methylated regions (DMRs) used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based ...
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A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR
Patsalis, Philippos C.; Tsaliki, Evdokia; Koumbaris, George L.; Karagrigoriou, Alex; Velissariou, Voula; Papageorgiou, Elisavet A. (2012)Introduction: Non-invasive prenatal diagnosis (NIPD) of Down syndrome is rapidly evolving. Currently, two applications for NIPD of Down syndrome have been developed with potential and have displayed positive results
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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 ...
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Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP‐qPCR methodology
Kyriakou, Skevi; Kypri, Elena; Spyrou, Christiana; Tsaliki, Evdokia; Velissariou, Voula; Papageorgiou, Elisavet A.; Patsalis, Philippos C.; Chitty, Lyn S.; Bianchi, Diana W. (2013)
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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 ...