Title | Author(s) | Issue date | ???itemlist.??? |
Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece | Iliadou, V.; Eleftheriades, N.; Metaxas, A. S.; Skevas, A.; Kiratzidis, T.; Pampanos, A.; Voyiatzis, N.; Grigoriadou, M.; Petersen, M. B.; Iliades, T. | 24-Nov-2015 | - |
Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31 | Avramopoulos, D.; Kitsos, G.; Economou-Petersen, E.; Grigoriadou, M.; Vassilopoulos, D.; Papageorgiou, C.; Psilas, K.; Petersen, M. B. | 24-Nov-2015 | - |
FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population | Syrrou, M.; Georgiou, I.; Grigoriadou, M.; Petersen, M. B.; Kitsiou, S.; Pagoulatos, G.; Patsalis, P. C. | 24-Nov-2015 | - |
A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability | Petersen, M. B.; Kitsos, G.; Samples, J. R.; Gaudette, N. D.; Economou-Petersen, E.; Sykes, R.; Rust, K.; Grigoriadou, M.; Aperis, G.; Choi, D.; Psilas, K.; Craig, J. E.; Kramer, P. L.; Mackey, D. A.; Wirtz, M. K. | 24-Nov-2015 | - |
A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family | Yang, Z.; Kitsos, G.; Tong, Z.; Payne, M.; Gorezis, S.; Psilas, K.; Grigoriadou, M.; Zhao, Y.; Kamaya, S.; Aperis, G.; Petersen, M. B.; Zhang, K. | 24-Nov-2015 | - |
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter | Sarri, C.; Gyftodimou, J.; Avramopoulos, D.; Grigoriadou, M.; Pedersen, W.; Pandelia, E.; Pangalos, C.; Abazis, D.; Kitsos, G.; Vassilopoulos, D.; Brondum-Nielsen, K.; Petersen, M. B. | 24-Nov-2015 | - |
Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings | Iliades, T.; Eleftheriades, N.; Iliadou, V.; Pampanos, A.; Voyiatzis, N.; Economides, J.; Leotsakos, P.; Neou, P.; Tsakanikos, M.; Antoniadi, T.; Konstantopoulou, I.; Yannoukakos, D.; Grigoriadou, M.; Skevas, A.; Petersen, M. B. | 24-Nov-2015 | - |
Prevalence of GJB2 mutations in prelingual deafness in the Greek population | Pampanos, A.; Economides, J.; Iliadou, V.; Neou, P.; Leotsakos, P.; Voyiatzis, N.; Eleftheriades, N.; Tsakanikos, M.; Antoniadi, T.; Hatzaki, A.; Konstantopoulou, I.; Yannoukakos, D.; Gronskov, K.; Brondum-Nielsen, K.; Grigoriadou, M.; Gyftodimou, J.; Iliades, T.; Skevas, A.; Petersen, M. B. | 24-Nov-2015 | - |
Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece | Kitsos, G.; Petrou, Z.; Grigoriadou, M.; Samples, J. R.; Hewitt, A. W.; Kokotas, H.; Giannoulia-Karantana, A.; Mackey, D. A.; Wirtz, M. K.; Moschou, M.; Ioannidis, J. P.; Petersen, M. B. | 24-Nov-2015 | - |
Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation | Pampanos, A.; Neou, P.; Iliades, T.; Apostolopoulos, N.; Voyiatzis, N.; Grigoriadou, M.; Katsichti, L.; Skevas, A.; Petersen, M. B. | 24-Nov-2015 | - |
Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis | Samples, J. R.; Kitsos, G.; Economou-Petersen, E.; Steinkamp, P.; Sykes, R.; Rust, K.; Patzer, C.; Grigoriadou, M.; Aperis, G.; Psilas, K.; Petersen, M. B.; Wirtz, M. K. | 24-Nov-2015 | - |