Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms

por Sargiannidou, Irene, Christophidou-Anastasiadou, Violetta, Hadjisavvas, Andreas, Tanteles, George A., Kleopa, Kleopas A.
Publicado no Front Genet (2021)

Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report

por LOIZIDOU, MARIA A., HADJISAVVAS, ANDREAS, TANTELES, GEORGE A., SPANOU-ARISTIDOU, ELENA, KYRIACOU, KYRIACOS, CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA
Publicado no Oncol Lett (2016)

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

por Tanteles, George A., Nikolaou, Elpiniki, Christou, Yiolanda, Alexandrou, Angelos, Evangelidou, Paola, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Papacostas, Savvas S.
Publicado no Case Rep Genet (2015)

De novo mosaic MECP2 mutation in a female with Rett syndrome

por Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou‐Anastasiadou, Violetta, Sismani, Carolina
Publicado no Clin Case Rep (2019)

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

por Aristidou, Constantia, Koufaris, Costas, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M., Behjati, Farkhondeh, Tanteles, George, Christophidou-Anastasiadou, Violetta, Tommerup, Niels, Sismani, Carolina
Publicado no PLoS One (2017)

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation

por Syrimis, Andreas, Nicolaou, Nayia, Alexandrou, Angelos, Papaevripidou, Ioannis, Nicolaou, Michael, Loukianou, Eleni, Sismani, Carolina, Malas, Stavros, Christophidou-Anastasiadou, Violetta, Tanteles, George A.
Publicado no Mol Med Rep (2018)

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population

por Kritioti, Evie, Theodosiou, Athina, Parpaite, Thibaud, Alexandrou, Angelos, Nicolaou, Nayia, Papaevripidou, Ioannis, Séjourné, Nina, Coste, Bertrand, Christophidou-Anastasiadou, Violetta, Tanteles, George A., Sismani, Carolina
Publicado no PLoS One (2021)

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

por Georgiou, Theodoros, Mavrikiou, Gavriella, Alexandrou, Angelos, Spanou-Aristidou, Elena, Savva, Isavella, Christodoulides, Theodoros, Krasia, Maria, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Drousiotou, Anthi, Tanteles, George A.
Publicado no Case Rep Genet (2016)

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

por Aristidou, Constantia, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M., Constantinou, Efthymia, Alexandrou, Angelos, Papaevripidou, Ioannis, Christophidou-Anastasiadou, Violetta, Skordis, Nicos, Kitsiou-Tzeli, Sophia, Tommerup, Niels, Sismani, Carolina
Publicado no PLoS One (2018)

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

por MacKenzie, Katherine C., de Graaf, Bianca M., Syrimis, Andreas, Zhao, Yuying, Brosens, Erwin, Mancini, Grazia M. S., Schot, Rachel, Halley, Dicky, Wilke, Martina, Vøllo, Arve, Flinter, Frances, Green, Andrew, Mansour, Sahar, Pilch, Jacek, Stark, Zornitza, Zamba‐Papanicolaou, Eleni, Christophidou‐Anastasiadou, Violetta, Hofstra, Robert M. W., Jongbloed, Jan D. H., Nicolaou, Nayia, Tanteles, George A., Brooks, Alice S., Alves, Maria M.
Publicado no Hum Mutat (2020)