A new method for non-invasive prenatal diagnosis of Down syndrome using MeDIP real time qPCR

door Patsalis, Philippos C.
Gepubliceerd in Appl Transl Genom (2012)

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

door Papageorgiou, Elisavet A, Patsalis, Philippos C
Gepubliceerd in 2012

Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery

door Papageorgiou, Elisavet A, Patsalis, Philippos C
Gepubliceerd in 2013

Measurement of locus copy number by hybridisation with amplifiable probes

door Armour, John A. L., Sismani, Carolina, Patsalis, Philippos C., Cross, Gareth
Gepubliceerd in 2000

The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

door Papageorgiou, Elisavet A., Koumbaris, George, Kypri, Elena, Hadjidaniel, Michael, Patsalis, Philippos C.
Gepubliceerd in 2014

Fetal-specific DNA methylation ratio permits non-invasive prenatal diagnosis of trisomy 21

door Papageorgiou, Elisavet A., Karagrigoriou, Alex, Tsaliki, Evdokia, Velissariou, Voula, Carter, Nigel P., Patsalis, Philippos C.
Gepubliceerd in 2011

Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prena...

door Leontiou, Chrysanthia A., Hadjidaniel, Michael D., Mina, Petros, Antoniou, Pavlos, Ioannides, Marios, Patsalis, Philippos C.
Gepubliceerd in PLoS One (2015)

Sites of Differential DNA Methylation between Placenta and Peripheral Blood : Molecular Markers for Noninvasive Prenatal Diagnosis of Aneuploidies

door Papageorgiou, Elisavet A., Fiegler, Heike, Rakyan, Vardhman, Beck, Stephan, Hulten, Maj, Lamnissou, Klea, Carter, Nigel P., Patsalis, Philippos C.
Gepubliceerd in 2009

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberr...

door Evangelidou, Paola, Sismani, Carolina, Ioannides, Marios, Christodoulou, Christodoulos, Koumbaris, George, Kallikas, Ioannis, Georgiou, Ioannis, Velissariou, Voula, Patsalis, Philippos C
Gepubliceerd in 2010

Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH

door Kousoulidou, Ludmila, Moutafi, Maria, Nicolaides, Paola, Hadjiloizou, Stavros, Christofi, Christos, Paradesiotou, Anna, Anastasiadou, Violetta, Sismani, Carolina, Patsalis, Philippos C.
Gepubliceerd in 2013

Development of a new methylation‐based fetal fraction estimation assay using multiplex ddPCR

door Ioannides, Marios, Achilleos, Achilleas, Kyriakou, Skevi, Kypri, Elena, Loizides, Charalambos, Tsangaras, Kyriakos, Constantinou, Louiza, Koumbaris, George, Patsalis, Philippos C.
Gepubliceerd in Mol Genet Genomic Med (2019)

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

door Ioannides, Marios, Papageorgiou, Elisavet A, Keravnou, Anna, Tsaliki, Evdokia, Spyrou, Christiana, Hadjidaniel, Michael, Sismani, Carolina, Koumbaris, George, Patsalis, Philippos C
Gepubliceerd in Mol Cytogenet (2014)

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

door Evangelidou, Paola, Alexandrou, Angelos, Moutafi, Maria, Ioannides, Marios, Antoniou, Pavlos, Koumbaris, George, Kallikas, Ioannis, Velissariou, Voula, Sismani, Carolina, Patsalis, Philippos C.
Gepubliceerd in 2013

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

door Neocleous, Vassos, Yiallouros, Panayiotis K., Tanteles, George A., Costi, Constantina, Moutafi, Maria, Ioannou, Phivos, Patsalis, Philippos C., Sismani, Carolina, Phylactou, Leonidas A.
Gepubliceerd in 2014

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

door Sismani, Carolina, Kitsiou-Tzeli, Sofia, Ioannides, Marios, Christodoulou, Christodoulos, Anastasiadou, Violetta, Stylianidou, Goula, Papadopoulou, Eleftheria, Kanavakis, Emanuel, Kosmaidou-Aravidou, Zoe, Patsalis, Philippos C
Gepubliceerd in 2008

Differential DNA Methylation as a Tool for Noninvasive Prenatal Diagnosis (NIPD) of X Chromosome Aneuploidies

door Della Ragione, Floriana, Mastrovito, Paola, Campanile, Ciro, Conti, Anna, Papageorgiou, Elisavet A., Hultén, Maj A., Patsalis, Philippos C., Carter, Nigel P., D'Esposito, Maurizio
Gepubliceerd in 2010

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

door Neofytou, Maria C., Tsangaras, Kyriakos, Kypri, Elena, Loizides, Charalambos, Ioannides, Marios, Achilleos, Achilleas, Mina, Petros, Keravnou, Anna, Sismani, Carolina, Koumbaris, George, Patsalis, Philippos C.
Gepubliceerd in PLoS One (2017)

A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders

door Bashiardes, Stavros, Kousoulidou, Ludmila, van Bokhoven, Hans, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, de Brouwer, Arjan P.M., Van Esch, Hilde, Froyen, Guy, Patsalis, Philippos C.
Gepubliceerd in 2009

MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of co...

door Keravnou, Anna, Ioannides, Marios, Loizides, Charalambos, Tsangaras, Kyriakos, Achilleos, Achilleas, Mina, Petros, Kypri, Elena, Hadjidaniel, Michael D., Neofytou, Maria, Kyriacou, Skevi, Sismani, Carolina, Koumbaris, George, Patsalis, Philippos C.
Gepubliceerd in PLoS One (2018)

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

door KERAVNOU, ANNA, IOANNIDES, MARIOS, TSANGARAS, KYRIAKOS, LOIZIDES, CHARALAMBOS, HADJIDANIEL, MICHAEL D., PAPAGEORGIOU, ELISAVET A., KYRIAKOU, SKEVI, ANTONIOU, PAVLOS, MINA, PETROS, ACHILLEOS, ACHILLEAS, NEOFYTOU, MARIA, KYPRI, ELENA, SISMANI, CAROLINA, KOUMBARIS, GEORGE, PATSALIS, PHILIPPOS C.
Gepubliceerd in Genet Res (Camb) (2016)