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Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.
Kitsiou-Tzeli S, Deligiorgi M, Malaktari-Skarantavou S, Vlachopoulos C, Megremis S, Fylaktou I, Traeger-Synodinos J, Kanaka-Gantenbein C, Stefanadis C, Kanavakis E. Kitsiou-Tzeli S, et al. Hormones (Athens). 2012 Jul-Sep;11(3):361-7. doi: 10.14310/horm.2002.1366. Hormones (Athens). 2012. PMID: 22908070 Free article.
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.
Kekou K, Svingou M, Sofocleous C, Mourtzi N, Nitsa E, Konstantinidis G, Youroukos S, Skiadas K, Katsalouli M, Pons R, Papavasiliou A, Kotsalis C, Pavlou E, Evangeliou A, Katsarou E, Voudris K, Dinopoulos A, Vorgia P, Niotakis G, Diamantopoulos N, Nakou I, Koute V, Vartzelis G, Papadimas GK, Papadopoulos C, Tsivgoulis G, Traeger-Synodinos J. Kekou K, et al. J Neuromuscul Dis. 2020;7(3):247-256. doi: 10.3233/JND-190466. J Neuromuscul Dis. 2020. PMID: 32417790 Free PMC article.
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.
Marinakis NM, Tilemis FN, Veltra D, Svingou M, Sofocleous C, Kekou K, Kosma K, Kampouraki A, Kontse C, Fylaktou I, Sertedaki A, Kanaka-Gantenbein C, Traeger-Synodinos J, Makrythanasis P. Marinakis NM, et al. Among authors: traeger synodinos j. Eur J Hum Genet. 2024 Nov 2. doi: 10.1038/s41431-024-01726-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39488673
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.
Christodoulaki V, Kosma K, Marinakis NM, Tilemis FN, Stergiou N, Kampouraki A, Kapogiannis C, Karava V, Mitsioni A, Mila M, Kanaka-Gantenbein C, Makrythanasis P, Tzetis M, Traeger-Synodinos J. Christodoulaki V, et al. Among authors: traeger synodinos j. Genes (Basel). 2024 Aug 2;15(8):1016. doi: 10.3390/genes15081016. Genes (Basel). 2024. PMID: 39202375 Free PMC article.
192 results