Epidemiology of Type 1 diabetes mellitus in Cyprus: rising incidence at the dawn of the 21st century N Skordis, E Efstathiou, TC Kyriakides, A Savvidou, SC Savva, ... Hormones 11, 86-93, 2012 | 35 | 2012 |
Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature V Neocleous, N Skordis, C Shammas, E Efstathiou, ... Metabolism 61 (7), 922-930, 2012 | 34 | 2012 |
In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty V Neocleous, C Shammas, MM Phelan, S Nicolaou, LA Phylactou, ... Clinical Endocrinology 84 (1), 80-84, 2016 | 32 | 2016 |
Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia N Skordis, A Kyriakou, V Tardy, YS Ioannou, A Varvaresou, ... Hormone Research in Pædiatrics 75 (3), 180-186, 2011 | 27 | 2011 |
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations V Neocleous, C Shammas, AAP Phedonos, LA Phylactou, N Skordis Indian Journal of Endocrinology and Metabolism 18 (Suppl 1), S72, 2014 | 24 | 2014 |
Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia N Skordis, C Shammas, E Efstathiou, K Kaffe, V Neocleous, LA Phylactou Clinical biochemistry 44 (12), 959-963, 2011 | 23 | 2011 |
A report of 2 new cases of MODY2 and review of the literature: implications in the search for type 2 diabetes drugs C Shammas, V Neocleous, MM Phelan, LY Lian, N Skordis, LA Phylactou Metabolism 62 (11), 1535-1542, 2013 | 20 | 2013 |
Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect C Shammas, V Neocleous, M Toumba, C Costi, AAP Phedonos, ... Genetic Testing and Molecular Biomarkers 16 (9), 1073-1079, 2012 | 18 | 2012 |
Evidence of digenic inheritance in autoinflammation-associated genes V Neocleous, S Byrou, M Toumba, C Costi, C Shammas, C Kyriakou, ... Journal of genetics 95, 761-766, 2016 | 17 | 2016 |
Genetic defects of the CYP21A2 gene in girls with premature adrenarche N Skordis, C Shammas, AAP Phedonos, A Kyriakou, M Toumba, ... Journal of Endocrinological Investigation 38, 535-539, 2015 | 17 | 2015 |
High carrier frequency of 21‐hydroxylase deficiency in Cyprus AAP Phedonos, C Shammas, N Skordis, TC Kyriakides, V Neocleous, ... Clinical Genetics 84 (6), 585-588, 2013 | 16 | 2013 |
Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients V Neocleous, C Costi, C Kyriakou, TC Kyriakides, C Shammas, N Skordis, ... Annals of Human Genetics 79 (1), 20-27, 2015 | 14 | 2015 |
Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia V Neocleous, C Shammas, AP Phedonos, E Karaoli, A Kyriakou, ... Georgian medical news, 40-47, 2012 | 14 | 2012 |
Duplication of exons 3–10 of the HSD17B3 gene: A novel type of genetic defect underlying 17β-HSD-3 deficiency V Neocleous, C Sismani, C Shammas, E Efstathiou, A Alexandrou, ... Gene 499 (2), 250-255, 2012 | 14 | 2012 |
Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A> G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea N Skordis, C Shammas, E Efstathiou, A Sertedaki, V Neocleous, ... Hormones 10, 230-235, 2011 | 13 | 2011 |
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia C Shammas, T Papasavva, X Felekis, C Christophorou, H Roomere, ... Clinical chemistry and laboratory medicine 48 (12), 1713-1718, 2010 | 13 | 2010 |
NMR and molecular modelling studies of the binding of amicetin antibiotic to conserved secondary structural motifs of 23S ribosomal RNAs J Donarski, C Shammas, R Banks, V Ramesh The Journal of antibiotics 59 (3), 177-183, 2006 | 13 | 2006 |
Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy NP Mastroyiannopoulos, C Shammas, LA Phylactou Biology of the Cell 102 (9), 515-523, 2010 | 12 | 2010 |
Variations in the 3′ UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia V Neocleous, P Fanis, M Toumba, AAP Phedonos, M Picolos, E Andreou, ... International Journal of Endocrinology 2017, 2017 | 11 | 2017 |
Effects of growth hormone on heart structure and function in adolescence. M Toumba, V Neocleous, C Shammas, A Jossif, N Skordis Georgian medical news, 34-39, 2012 | 10 | 2012 |