Search Results - "EVANGELIDOU, Paola"

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene by Alexandrou, Angelos, Salameh, Nicole, Papaevripidou, Ioannis, Nicolaou, Nayia, Myrianthopoulos, Panayiotis, Ketoni, Andria, Kousoulidou, Ludmila, Anastasiou, Anna-Maria, Evangelidou, Paola, Tanteles, George A, Sismani, Carolina

“…Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric…”
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Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations by Evangelidou, Paola, Sismani, Carolina, Ioannides, Marios, Christodoulou, Christodoulos, Koumbaris, George, Kallikas, Ioannis, Georgiou, Ioannis, Velissariou, Voula, Patsalis, Philippos C

“…The purpose of the study was the application and evaluation of array Comparative Genomic Hybridization (array CGH) in selected cases during prenatal diagnosis…”
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A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus by Velissariou, Voula, Donoghue, Jacqueline, Evangelidou, Paola, Alexandrou, Angelos, Christopoulou, Georgia, Sismani, Carolina, Konstantinidou, Anastasia E.

“…Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the…”
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Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3 by Papacostas, Savvas S., Anastasiadou, Violetta, Evangelidou, Paola, Alexandrou, Angelos, Christou, Yiolanda, Nikolaou, Elpiniki, Tanteles, George A., Sismani, Carolina

“…We report on a 29-year-old Greek-Cypriot female with a de novo 6.3 Mb distal 10q26.2q26.3 deletion. She had a very mild neurocognitive phenotype with near…”
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Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study by Patsalis, Constantinos, Kyriakou, Skevi, Georgiadou, Michaella, Ioannou, Lygia, Constantinou, Louisa, Soteriou, Valando, Jossif, Antonis, Evangelidou, Paola, Sismani, Carolina, Kypri, Elena, Ioannides, Marios, Koumbaris, George

“…Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) have significant phenotypic overlap and a similar genetic background, both caused mainly…”
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Two unrelated individuals carrying rare mosaic deletions in TCF4 gene by Kousoulidou, Ludmila, Alexandrou, Angelos, Papaevripidou, Ioannis, Evangelidou, Paola, Tanteles, George, Anastasiadou, Violetta C., Sismani, Carolina

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Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing by Aristidou, Constantia, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Evangelidou, Paola, Kosmaidou-Aravidou, Zoe, Behjati, Farkhondeh, Christophidou-Anastasiadou, Violetta, Tanteles, George A, Sismani, Carolina

“…Familial apparently balanced translocations (ABTs) are usually not associated with a phenotype; however, rarely, ABTs segregate with discordant phenotypes in…”
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Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies by Hadjipanteli, Andrea, Theodosiou, Athina, Papaevripidou, Ioannis, Evangelidou, Paola, Alexandrou, Angelos, Salameh, Nicole, Kallikas, Ioannis, Kakoullis, Kyriakos, Frakala, Sofia, Oxinou, Christina, Marnerides, Andreas, Kousoulidou, Ludmila, Anastasiadou, Violetta C, Sismani, Carolina

“…Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation of action potentials in the brain and muscle. Pathogenic variants in…”
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Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature by Tanteles, George A., Alexandrou, Angelos, Evangelidou, Paola, Gavatha, Marina, Anastasiadou, Violetta, Sismani, Carolina

“…Deletions or intragenic mutations involving the MEF2C gene on chromosome 5q14.3 have generally been associated with a relatively uniform phenotype…”
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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 supravalvular aortic stenosis by Evangelidou, Paola, Kousoulidou, Ludmila, Salameh, Nicole, Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna-Maria, Ketoni, Andria, Ioannidou, Charithea, Christophidou -Anastasiadou, Violetta, Tanteles, George A., Sismani, Carolina

“…Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by supravalvular aortic stenosis (SVAS), intellectual disability,…”
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Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature by Patsalis, Philippos C., Sismani, Carolina, Kallikas, Ioannis, Koumbaris, George, Antoniou, Pavlos, Ioannides, Marios, Moutafi, Maria, Alexandrou, Angelos, Evangelidou, Paola, Velissariou, Voula

“…Array Comparative Genomic Hybridization analysis is replacing postnatal chromosomal analysis in cases of intellectual disabilities, and it has been postulated…”
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De novo mosaic MECP2 mutation in a female with Rett syndrome by Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou‐Anastasiadou, Violetta, Sismani, Carolina

“…Key Clinical Message We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP2 gene, with random X‐chromosome…”
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Hb A 2 Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent by Lederer, Carsten W, Pavlou, Eleni, Tanteles, George A, Evangelidou, Paola, Sismani, Carolina, Kolnagou, Annita, Sitarou, Maria, Christou, Soteroulla, Hadjigavriel, Michael, Kleanthous, Marina

“…Thalassaemia is a potentially lethal inherited anaemia, caused by reduced or absent synthesis of globin chains. Measurement of the minor adult haemoglobin Hb A…”
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De novo mosaic MECP 2 mutation in a female with Rett syndrome by Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou‐Anastasiadou, Violetta, Sismani, Carolina

“…Key Clinical Message We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP 2 gene, with random X‐chromosome…”
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Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity by PATSALIS, Philippos C, EVANGELIDOU, Paola, CHARALAMBOUS, Spyros, SISMANI, Carolina

“…The great majority of apparently balanced translocations are associated with multiple miscarriages and normal phenotype. Several mechanisms have been proposed…”
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Erratum: Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH by Kitsiou-Tzeli, Sofia, Sismani, Carolina, Karkaletsi, Margarita, Florentin, Lina, Anastassiou, Anastassios, Koumbaris, George, Evangelidou, Paola, Agapitos, Emmanouil, Patsalis, P. C., Velissariou, Voula

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Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH by Kitsiou-Tzeli, Sofia, Sismani, Carolina, Karkaletsi, Margarita, Florentin, Lina, Anastassiou, Anastassios, Koumbaris, George, Enangelidou, Paola, Agapitos, Emmanouil, Patsalis, P. C., Velissariou, Voula

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De novo mosaic MECP2 mutation in a female with Rett syndrome by Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou-Anastasiadou, Violetta, Sismani, Carolina

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Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH by Kitsiou-Tzeli, Sofia, Sismani, Carolina, Karkaletsi, Margarita, Florentin, Lina, Anastassiou, Anastassios, Koumbaris, George, Evangelidou, Paola, Enangelidou, Paola, Agapitos, Emmanouil, Patsalis, P C, Velissariou, Voula

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