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 2021

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 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 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 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 2018

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing

por Aristidou, Constantia, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Evangelidou, Paola, Kosmaidou-Aravidou, Zoe, Behjati, Farkhondeh, Christophidou-Anastasiadou, Violetta, Tanteles, George A., Sismani, Carolina
Publicado 2022

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 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 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 2018

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

por Tylki-Szymańska, Anna, Almássy, Zsuzsanna, Christophidou-Anastasiadou, Violetta, Avdjieva-Tzavella, Daniela, Barisic, Ingeborg, Cerkauskiene, Rimante, Cuturilo, Goran, Djiordjevic, Maja, Gucev, Zoran, Hlavata, Anna, Kieć-Wilk, Beata, Magner, Martin, Pecin, Ivan, Plaiasu, Vasilica, Samardzic, Mira, Zafeiriou, Dimitrios, Zaganas, Ioannis, Lampe, Christina
Publicado 2022

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 2020