| COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy K Voskarides, L Damianou, V Neocleous, I Zouvani, S Christodoulidou, ... Journal of the American Society of Nephrology 18 (11), 3004-3016, 2007 | 256 | 2007 |
| EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) G Porto, P Brissot, DW Swinkels, H Zoller, O Kamarainen, S Patton, ... European Journal of Human Genetics 24 (4), 479-495, 2016 | 126 | 2016 |
| The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X DR Bentley, P Deloukas, A Dunham, L French, SG Gregory, SJ Humphray, ... Nature 409 (6822), 942-943, 2001 | 95 | 2001 |
| Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor ε-subunit gene L Middleton, K Ohno, K Christodoulou, J Brengman, M Milone, ... Neurology 53 (5), 1076-1076, 1999 | 44 | 1999 |
| Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism COST Action BM1105 http://www. gnrhnetwork. eu, C Badiu, M Bonomi, ... Orphanet journal of rare diseases 12, 1-9, 2017 | 43 | 2017 |
| 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 | 41 | 2012 |
| 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 | 41 | 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 | 37 | 2016 |
| GnRH deficient patients with congenital hypogonadotropic hypogonadism: novel genetic findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A genes in a case series and review … V Neocleous, P Fanis, M Toumba, GA Tanteles, M Schiza, F Cinarli, ... Frontiers in endocrinology 11, 626, 2020 | 35 | 2020 |
| Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone S Németh, S Riedl, G Kriegshäuser, S Baumgartner-Parzer, P Concolino, ... Clinica Chimica Acta 414, 211-214, 2012 | 35 | 2012 |
| 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 | 32 | 2011 |
| Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene P Fanis, N Skordis, M Toumba, N Papaioannou, A Makris, A Kyriakou, ... Frontiers in Endocrinology 10, 677, 2019 | 30 | 2019 |
| 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-S79, 2014 | 30 | 2014 |
| Cystic fibrosis mutational spectrum and genotypic/phenotypic features in greek‐cypriots, with emphasis on dehydration as presenting symptom PK Yiallouros, V Neocleous, M Zeniou, T Adamidou, C Costi, C Christophi, ... Clinical genetics 71 (3), 290-292, 2007 | 29 | 2007 |
| High Frequency of 35delG GJB2 Mutation and Absence of del(GJB6-D13S1830) in Greek Cypriot Patients with Nonsyndromic Hearing Loss V Neocleous, A Aspris, V Shahpenterian, V Nicolaou, C Panagi, I Ioannou, ... Genetic Testing 10 (4), 285-289, 2006 | 29 | 2006 |
| EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus LH Hoefsloot, AF Roux, M Bitner-Glindzicz European Journal of Human Genetics 21 (11), 1325-1329, 2013 | 28 | 2013 |
| A novel MKRN3 nonsense mutation causing familial central precocious puberty A Christoforidis, N Skordis, P Fanis, M Dimitriadou, M Sevastidou, ... Endocrine 56, 446-449, 2017 | 27 | 2017 |
| 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 | 27 | 2013 |
| 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 | 26 | 2013 |
| 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 | 25 | 2011 |
Nicos SkordisProfessor of Pediatrics, St George's University London Medical School at the University of Nicosiaایمیل تأیید شده در paedi.org.cy
