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

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

por Voskarides, Konstantinos, Papagregoriou, Gregory, Hadjipanagi, Despina, Petrou, Ioanelli, Savva, Isavella, Elia, Avraam, Athanasiou, Yiannis, Pastelli, Androulla, Kkolou, Maria, Hadjigavriel, Michalis, Stavrou, Christoforos, Pierides, Alkis, Deltas, Constantinos
Publicado 2018

A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome

por Odiatis, Christoforos, Savva, Isavella, Pieri, Myrtani, Ioannou, Pavlos, Petrou, Petros, Papagregoriou, Gregory, Antoniadou, Kyriaki, Makrides, Neoklis, Stefanou, Charalambos, Ljubanović, Danica Galešić, Nikolaou, Georgios, Borza, Dorin-Bogdan, Stylianou, Kostas, Gross, Oliver, Deltas, Constantinos
Publicado 2020

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental...

por Papazachariou, Louiza, Demosthenous, Panayiota, Pieri, Myrtani, Papagregoriou, Gregory, Savva, Isavella, Stavrou, Christoforos, Zavros, Michael, Athanasiou, Yiannis, Ioannou, Kyriakos, Patsias, Charalambos, Panagides, Alexia, Potamitis, Costas, Demetriou, Kyproula, Prikis, Marios, Hadjigavriel, Michael, Kkolou, Maria, Loukaidou, Panayiota, Pastelli, Androulla, Michael, Aristos, Lazarou, Akis, Arsali, Maria, Damianou, Loukas, Goutziamani, Ioanna, Soloukides, Andreas, Yioukas, Lakis, Elia, Avraam, Zouvani, Ioanna, Polycarpou, Polycarpos, Pierides, Alkis, Voskarides, Konstantinos, Deltas, Constantinos
Publicado 2014

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

por Gross, Oliver, Kashtan, Clifford E., Rheault, Michelle N., Flinter, Frances, Savige, Judith, Miner, Jeffrey H., Torra, Roser, Ars, Elisabet, Deltas, Constantinos, Savva, Isavella, Perin, Laura, Renieri, Alessandra, Ariani, Francesca, Mari, Francesca, Baigent, Colin, Judge, Parminder, Knebelman, Bertrand, Heidet, Laurence, Lagas, Sharon, Blatt, Dave, Ding, Jie, Zhang, Yanqin, Gale, Daniel P., Prunotto, Marco, Xue, Yong, Schachter, Asher D., Morton, Lori C.G., Blem, Jacqui, Huang, Michael, Liu, Shiguang, Vallee, Sebastien, Renault, Daniel, Schifter, Julia, Skelding, Jules, Gear, Susie, Friede, Tim, Turner, A. Neil, Lennon, Rachel
Publicado 2017