| The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ... Human mutation 36 (4), 395-402, 2015 | 711 | 2015 |
| Clinical outcomes in Duchenne muscular dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database Z Koeks, CL Bladen, D Salgado, E Van Zwet, O Pogoryelova, ... Journal of neuromuscular diseases 4 (4), 293-306, 2017 | 162 | 2017 |
| Mutation spectrum and phenotypic manifestation in FSHD Greek patients P Sakellariou, K Kekou, H Fryssira, C Sofocleous, P Manta, ... Neuromuscular Disorders 22 (4), 339-349, 2012 | 52 | 2012 |
| Deletion patterns of Duchenne and Becker muscular dystrophies in Greece. L Florentin, A Mavrou, K Kekou, C Metaxotou Journal of medical genetics 32 (1), 48-51, 1995 | 45 | 1995 |
| Association of VEGF gene polymorphisms with the development of heart failure in patients after myocardial infarction P Douvaras, DG Antonatos, K Kekou, S Patsilinakos, G Chouliaras, ... Cardiology 114 (1), 11-18, 2009 | 43 | 2009 |
| Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome … C Kanaka-Gantenbein, S Kitsiou, A Mavrou, L Stamoyannou, A Kolialexi, ... Hormone research 61 (5), 205-210, 2004 | 38 | 2004 |
| The genetic etiology in cerebral palsy mimics: the results from a Greek tertiary care center V Zouvelou, D Yubero, L Apostolakopoulou, E Kokkinou, M Bilanakis, ... European Journal of Paediatric Neurology 23 (3), 427-437, 2019 | 36 | 2019 |
| Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian … NM Marinakis, M Svingou, D Veltra, K Kekou, C Sofocleous, FN Tilemis, ... American Journal of Medical Genetics Part A 185 (8), 2561-2571, 2021 | 31 | 2021 |
| Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol N Vogiatzakis, K Kekou, C Sophocleous, S Kitsiou, A Mavrou, C Bakoula, ... Molecular biotechnology 55, 1-9, 2013 | 19 | 2013 |
| Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients C Papadopoulos, K Kekou, S Xirou, S Kitsiou-Tzeli, E Kararizou, ... Eye 32 (3), 622-625, 2018 | 15 | 2018 |
| Phenotypic variability and molecular genetics in proximal myotonic myopathy GK Papadimas, K Kekou, C Papadopoulos, E Kararizou, E Kanavakis, ... Muscle & Nerve 51 (5), 686-691, 2015 | 13 | 2015 |
| Aldolase A deficiency: Report of new cases and literature review C Papadopoulos, M Svingou, K Kekou, S Vergnaud, S Xirou, G Niotakis, ... Molecular genetics and metabolism reports 27, 100730, 2021 | 10 | 2021 |
| Evaluation of genotypes and epidemiology of spinal muscular atrophy in Greece: a nationwide study spanning 24 years K Kekou, M Svingou, C Sofocleous, N Mourtzi, E Nitsa, G Konstantinidis, ... Journal of neuromuscular diseases 7 (3), 247-256, 2020 | 9 | 2020 |
| Caveolinopathies in Greece C Papadopoulos, GK Papadimas, K Kekou, K Spengos, M Svigou, ... The Neurologist 20 (1), 8-12, 2015 | 9 | 2015 |
| Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region L Florentin, C Bili, K Kekou, N Tripodis, A Mavrou, C Metaxotou Human genetics 96, 423-426, 1995 | 9 | 1995 |
| Coinheritance of Noonan syndrome and Becker muscular dystrophy A Dinopoulos, A Papadopoulou, P Manta, K Kekou, T Kanelopoulos, ... Neuromuscular Disorders 20 (1), 61-63, 2010 | 8 | 2010 |
| Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol K Kekou, H Fryssira, C Sophocleous, A Mavrou, P Manta, C Metaxotou Molecular and cellular probes 19 (6), 422-424, 2005 | 8 | 2005 |
| Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients K Kekou, A Mavrou, L Florentin, S Youroukos, DI Zafiriou, HN Skouteli, ... European Journal of Human Genetics 7 (2), 179-187, 1999 | 8 | 1999 |
| Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype R Pons, K Kekou, A Gkika, G Papadimas, N Vogiatzakis, M Svingou, ... Muscle & Nerve 55 (1), 46-50, 2017 | 7 | 2017 |
| PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol C Christofidou, C Sofocleous, C Vrettou, A Destouni, J Traeger-Synodinos, ... Reproductive biomedicine online 19 (3), 418-425, 2009 | 7 | 2009 |
