Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Authors: Byrou, Stefania, Brouwer, Rutger W. W., Tomazou, Marios, Tamana, Stella, Kountouris, Petros, Lederer, Carsten W., Petrou, Miranda, Ozgur, Zeliha, den Dekker, Xander, Azmani, Zakia, Christou, Soteroula, Makariou, Christiana, Kleanthous, Marina, IJcken, Wilfred F. J. van, Papasavva, Thessalia

Source: International Journal of Molecular Sciences; Jan2025, Vol. 26 Issue 2, p570, 21p

Subject Terms: GENETIC variation, CELL-free DNA, SAMPLING (Process), HAPLOTYPES, PRENATAL diagnosis

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.

Authors: Papasavva, Panayiota L., Kaouranis, Konstantinos, Byrou, Stefania, Constantinou, Constantina G., Efrosini, Iacovou, Kleanthous, Marina, Lederer, Carsten W., Papasavva, Thessalia

Source: Frontiers in Genetics; 2024, p1-5, 5p

Subject Terms: NUCLEOTIDE sequencing, PURE red cell aplasia, ESOPHAGEAL stenosis, GENETIC testing, BONE marrow

Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.

Authors: Stephanou, Coralea, Petrou, Miranda, Kountouris, Petros, Makariou, Christiana, Christou, Soteroula, Hadjigavriel, Michael, Kleanthous, Marina, Papasavva, Thessalia

Source: Biomedicines; Feb2024, Vol. 12 Issue 2, p296, 13p

Subject Terms: BETA-Thalassemia, GLOBIN genes, GENETIC variation, GENOTYPES, PHENOTYPES

Geographic Terms: CYPRUS

Direct Chromosomal Phasing: An Easy and Fast Approach for Broadening Prenatal Diagnostic Applicability.

Authors: Byrou, Stefania, Christopoulos, George, Christofides, Agathoklis, Makariou, Christiana, Ioannou, Christiana, Kleanthous, Marina, Papasavva, Thessalia

Source: Thalassemia Reports; Sep2022, Vol. 12 Issue 3, p55-72, 18p

Subject Terms: SINGLE nucleotide polymorphisms, HAPLOTYPES, PRENATAL diagnosis

Optimized Droplet Digital PCR Assay on Cell-Free DNA Samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia.

Authors: Constantinou, Constantina G., Karitzi, Eleni, Byrou, Stefania, Stephanou, Coralea, Michailidou, Kyriaki, Makariou, Christiana, Hadjilambi, Georgia, Christofides, Agathoklis, Kleanthous, Marina, Papasavva, Thessalia

Source: Clinical Chemistry; Aug2022, Vol. 68 Issue 8, p1053-1063, 11p

Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus.

Authors: Papasavva, Thessalia¹ thesalia@cing.ac.cy, Martin, Pete², Legler, Tobias J.³, Liasides, Marios⁴, Anastasiou, George⁵, Christofides, Agathoklis⁶, Christodoulou, Tasos⁷, Demetriou, Sotos⁸, Kerimis, Prokopis⁹, Kontos, Charis¹⁰, Leontiades, George¹¹, Papapetrou, Demetris⁵, Patroclos, Telis¹², Phylaktou, Marios⁷, Zottis, Nikos¹³, Karitzie, Eleni¹, Pavlou, Eleni¹, Kountouris, Petros¹, Veldhuisen, Barbera¹⁴, van der Schoot, Ellen¹⁴

Source: BMC Research Notes. 4/1/2016, Vol. 9, p1-8. 8p. 1 Diagram, 2 Charts.

Subject Terms: *PRENATAL diagnosis, *CONGENITAL hemolytic anemia, *HIGH-risk pregnancy, *DISEASE prevalence, *NEONATAL diseases, *PRENATAL care, *PREVENTION

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

Authors: Papasavva, Thessalia¹, van IJcken, Wilfred F J², Kockx, Christel E M², van den Hout, Mirjam C G N², Kountouris, Petros¹, Kythreotis, Loukas³, Kalogirou, Eleni³, Grosveld, Frank G², Kleanthous, Marina¹

Source: European Journal of Human Genetics. Dec2013, Vol. 21 Issue 12, p1403-1410. 8p.

Subject Terms: *SINGLE nucleotide polymorphisms, *PRENATAL diagnosis, *DIAGNOSIS, *GENES

Geographic Terms: CYPRUS

A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis of β-Thalassaemia.

Authors: Papasavva, Thessalia E.¹, Lederer, Carsten W.¹, Traeger‐Synodinos, Jan², Mavrou, Ariadne², Kanavakis, Emmanuel², Ioannou, Christiana³, Makariou, Christiana³, Kleanthous, Marina¹

Source: Annals of Human Genetics. Mar2013, Vol. 77 Issue 2, p115-124. 10p.

Subject Terms: *NONINVASIVE diagnostic tests, *SINGLE nucleotide polymorphisms, *BETA-Thalassemia, *GENETIC disorder diagnosis, *PREGNANCY complications, *PRENATAL diagnosis, *HAPLOTYPES

Arrayed Primer Extension for the Noninvasive Prenatal Diagnosis of β-Thalassemia Based on Detection of Single Nucleotide Polymorphisms.

Authors: Papasavva, Thessalia¹ (AUTHOR), Kalikas, Ioannis² (AUTHOR), Kyrri, Andreanni³ (AUTHOR), Kleanthous, Marina¹ (AUTHOR)

Source: Annals of the New York Academy of Sciences. Aug2008, Vol. 1137, p302-308. 7p. 2 Black and White Photographs, 2 Diagrams, 1 Chart.

Subject Terms: *THALASSEMIA diagnosis, *HEMOLYTIC anemia diagnosis, *GENETIC disorders, *DIAGNOSIS, *GENETIC polymorphisms, *MEDICAL genetics, HEMOGLOBINOPATHY diagnosis

Noninvasive Prenatal Diagnostic Assay for the Detection of β-Thalassemia.

Authors: PAPASAVVA, THESSALIA¹ (AUTHOR), KALAKOUTIS, GABRIEL² (AUTHOR), KALIKAS, IOANNIS² (AUTHOR), NEOKLI, ELECTRA² (AUTHOR), PAPACHARALAMBOUS, SOTEROULA² (AUTHOR), KYRRI, ANDREANNI³ (AUTHOR), KLEANTHOUS, MARINA¹ (AUTHOR)

Source: Annals of the New York Academy of Sciences. 2006, Vol. 1075 Issue 1, p148-153. 6p. 1 Black and White Photograph, 1 Diagram, 1 Graph.

Subject Terms: *THALASSEMIA, *GENES, *HEMOGLOBINOPATHY, *GENETICS, *HEMOLYTIC anemia

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Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.

Authors: Byrou, Stefania, Makrigiorgos, G. Mike, Christofides, Agathoklis, Kallikas, Ioannis, Papasavva, Thessalia, Kleanthous, Marina

Source: PLoS ONE; 7/25/2018, Vol. 13 Issue 7, p1-15, 15p

Subject Terms: BETA-Thalassemia, SINGLE nucleotide polymorphisms, POLYMERASE chain reaction, MOLECULAR genetics, GENE amplification, DIAGNOSIS

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ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.

Authors: Shammas, Christos, Papasavva, Thessalia, Felekis, Xenia, Christophorou, Christos, Roomere, Hanno, Synodinos, Jan Traeger, Kanavakis, Emmanuel, El-Khateeb, Mohammed, Hamamy, Hanan, Mahmoud, Tamara, Shboul, Mohammad, Beshlawy, Amal El, Filon, Dvora, Hussein, Ibtessam R., Galanello, Renzo, Romeo, Giovanni, Kleanthous, Marina

Source: Clinical Chemistry & Laboratory Medicine; Dec2010, Vol. 48 Issue 12, p1713-1718, 6p, 1 Color Photograph, 1 Diagram, 1 Chart

Subject Terms: DIAGNOSTIC examinations, DNA microarrays, NUCLEOTIDES, GENETIC polymorphisms, DNA