A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

Tekijä Sismani, Carolina, Christopoulou, Georgia, Alexandrou, Angelos, Evangelidou, Paola, Donoghue, Jacqueline, Konstantinidou, Anastasia E., Velissariou, Voula
Julkaisussa Case Rep Genet (2015)

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

Tekijä Kousoulidou, Ludmila, Alexandrou, Angelos, Papaevripidou, Ioannis, Evangelidou, Paola, Tanteles, George, Anastasiadou, Violetta C., Sismani, Carolina
Julkaisussa Am J Med Genet A (2018)

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

Tekijä Tanteles, George A., Nikolaou, Elpiniki, Christou, Yiolanda, Alexandrou, Angelos, Evangelidou, Paola, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Papacostas, Savvas S.
Julkaisussa Case Rep Genet (2015)

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

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

De novo mosaic MECP2 mutation in a female with Rett syndrome

Tekijä Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou‐Anastasiadou, Violetta, Sismani, Carolina
Julkaisussa Clin Case Rep (2019)

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

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