Vassos Neocleous, PhD
Vassos Neocleous, PhD
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Cited by
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Distal hereditary motor neuronopathy of the Jerash type
LT Middleton, K Christodoulou, A Mubaidin, E Zamba, M Tsingis, ...
Annals of the New York Academy of Sciences 883 (1), 65-68, 1999
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