Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene A Alexandrou, N Salameh, I Papaevripidou, N Nicolaou, ... Molecular Cytogenetics 16 (1), 8, 2023 | 4 | 2023 |
An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11. 21 microduplication in an infant with … P Evangelidou, L Kousoulidou, N Salameh, A Alexandrou, ... European Journal of Medical Genetics 63 (12), 104084, 2020 | 3 | 2020 |
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies A Hadjipanteli, A Theodosiou, I Papaevripidou, P Evangelidou, ... Genes 15 (1), 119, 2024 | | 2024 |
Case report demonstrating certain pitfalls and challenges in NGS data interpretation A Theodosiou, A Alexandrou, I Papaevripidou, L Kousoulidou, C Aristidou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 457-457, 2024 | | 2024 |
Fetal genetic factors associated with sonographic abnormalities and pregnancy loss A Hadjipanteli, A Theodosiou, I Papaevripidou, P Evangelidou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 103-104, 2024 | | 2024 |
Combined comprehensive approach in patients within Rett/Angelman phenotypic spectrum A Alexandrou, A Theodosiou, I Papaevripidou, A Chrysanthou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 365-365, 2020 | | 2020 |
Novel case with a double" apparently" balanced rearrangement disrupting EXT1 in a patient with hereditary multiple exostoses A Alexandrou, N Salameh, I Papaevripidou, N Nicolaou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 112-112, 2019 | | 2019 |
An unusual combination of an atypical maternally inherited 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11. 21 microduplication in an infant with supravalvular … P Evangelidou, G Tanteles, A Alexandrou, I Papaevripidou, A Ketoni, ... CHROMOSOME RESEARCH 23, S55-S56, 2015 | | 2015 |
Application of molecular methodologies for the identification of genetic abnormalities in aborted fetuses/intrauterine deaths that failed to grow in vitro P Evangelidou, N Salameh, C Ioannidou, E Panayiotou, E Constantinou, ... CHROMOSOME RESEARCH 21, S42-S42, 2013 | | 2013 |