Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

por Aristidou, Constantia, Theodosiou, Athina, Ketoni, Andria, Bak, Mads, Mehrjouy, Mana M., Tommerup, Niels, Sismani, Carolina
Publicado 2018

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

The PRINTS database: a fine-grained protein sequence annotation and analysis resource—its status in 2012

por Attwood, Teresa K., Coletta, Alain, Muirhead, Gareth, Pavlopoulou, Athanasia, Philippou, Peter B., Popov, Ivan, Romá-Mateo, Carlos, Theodosiou, Athina, Mitchell, Alex L.
Publicado 2012

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

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

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

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

por Malekkou, Anna, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Sismani, Carolina, Jacobs, Edwin H., Ruijter, George J.G., Anastasiadou, Violetta, Ourani, Sofia, Athanasiou, Emilia, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P.
Publicado 2023