E
Elisavet Siomou
Publications - 13
Citations - 153
Elisavet Siomou is an academic researcher. The author has contributed to research in topics: Prenatal diagnosis & Hypotonia. The author has an hindex of 7, co-authored 13 publications receiving 130 citations.
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Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases
Ioannis Papoulidis,Alexandros Sotiriadis,Elisavet Siomou,Elena Papageorgiou,Makarios Eleftheriades,Vasilios Papadopoulos,Eirini Oikonomidou,Sandro Orru,Emmanouil Manolakos,Apostolos Athanasiadis +9 more
TL;DR: This study aims to evaluate the diagnostic yield of comparative genomic hybridization microarrays (aCGH) and compare it with conventional karyotype analysis of standard >5‐Mb resolution.
Journal ArticleDOI
Dual testing with QF‐PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13 500 cases with consideration of using QF‐PCR as a stand‐alone test according to referral indications
Ioannis Papoulidis,Elisavet Siomou,Alexandros Sotiriadis,George Efstathiou,Anastasia Psara,Eirini Sevastopoulou,Eleftherios Anastasakis,Stavros Sifakis,Theodora Tsiligianni,Maria Kontodiou,Christine Malamaki,Maria Tzimina,Michael B. Petersen,Emmanouil Manolakos,Apostolos Athanasiadis +14 more
TL;DR: The results obtained from Quantitative Fluorescent (QF)‐PCR and conventional karyotype analysis are evaluated to determine the advantages and disadvantages of dual testing in prenatal diagnosis.
Journal ArticleDOI
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.
Ioannis Papoulidis,Elena Papageorgiou,Elisavet Siomou,Eirini Oikonomidou,Loretta Thomaidis,Annalisa Vetro,Orsetta Zuffardi,Thomas Liehr,Emmanouil Manolakos,Papadopoulos Vassilis +9 more
TL;DR: The data support the evidence of specific regions on distal 21q whose duplication results in phenotypes recalling the typical DS face, and a patient with a borderline IQ confirms that their duplication is not sufficient to cause the full DS phenotype.
Journal ArticleDOI
Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report.
Ioannis Papoulidis,Eirini Oikonomidou,Sandro Orru,Elisavet Siomou,Maria Kontodiou,Makarios Eleftheriades,Vasilios Bacoulas,Juan C. Cigudosa,Javier Suela,Loretta Thomaidis,Emmanouil Manolakos +10 more
TL;DR: The study describes the first case of prenatal analysis of TAR syndrome in a fetus with compound inheritance of a 334‑kb deletion in the 1q21.1 region and a low‑frequency 5' UTR single nucleotide polymorphism, and provides confirmation of the causal nature of the RBM8A gene in the diagnosis of T AR syndrome.
Journal ArticleDOI
Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study
Alexandros Sotiriadis,Ioannis Papoulidis,Elisavet Siomou,Elena Papageorgiou,Makarios Eleftheriades,Vasilios Papadopoulos,Maria Alexiou,Emmanouil Manolakos,Apostolos Athanasiadis +8 more
TL;DR: To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non‐invasive prenatal screening (NIPS), aCGH-based approaches are considered.