V. Neocleous

发表

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

P. Yiallouros, M. Macek, A. Eleftheriou, 2021, Orphanet Journal of Rare Diseases.

Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect

G. Tanteles, G. Christopoulos, M. Kleanthous, 2018, Journal of Endocrinological Investigation.

Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients

A. Pierides, A. Hadjipanayis, M. Koliou, 2015, Annals of human genetics.

Polycystic ovarian syndrome in adolescents: from diagnostic criteria to therapeutic management

Nicolas C. Nicolaides, N. Skordis, V. Neocleous, 2020, Acta bio-medica : Atenei Parmensis.

Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

P. Fanis, L. Phylactou, N. Skordis, 2018, Front. Endocrinol..

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

G. Tanteles, T. Kyriakides, C. Shammas, 2017, International journal of endocrinology.

Genetic defects of the CYP21A2 gene in girls with premature adrenarche

C. Shammas, L. Phylactou, N. Skordis, 2015, Journal of Endocrinological Investigation.

Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect.

C. Shammas, L. Phylactou, N. Skordis, 2012, Genetic testing and molecular biomarkers.

Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia.

C. Shammas, L. Phylactou, N. Skordis, 2011, Clinical biochemistry.

A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity

C. Mantzoros, M. Phelan, C. Shammas, 2016, Hormones.

Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy

N. Nicolaou, G. Spyrou, A. Oulas, 2020, Frontiers in Integrative Neuroscience.

Epidemiology of Type 1 diabetes mellitus in Cyprus: rising incidence at the dawn of the 21st century

S. Savva, T. Kyriakides, C. Shammas, 2012, Hormones.

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene

P. Fanis, L. Phylactou, N. Skordis, 2019, Front. Endocrinol..

Evidence of digenic inheritance in autoinflammation-associated genes

A. Hadjipanayis, G. Tanteles, C. Shammas, 2016, Journal of Genetics.

In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty

M. Phelan, C. Shammas, L. Phylactou, 2016, Clinical endocrinology.

Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity

C. Mantzoros, D. Vlachakis, P. Fanis, 2021, International journal of molecular medicine.

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 of the Literature

C. Mantzoros, G. Spyrou, Nicolas C. Nicolaides, 2020, Frontiers in Endocrinology.

P. Yiallouros, M. Macek, A. Eleftheriou, 2021, Orphanet Journal of Rare Diseases.

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

V. Tillmann, P. Chanson, M. Dattani, 2020, Orphanet Journal of Rare Diseases.

UVR Modulates the Steady‐state Levels of Skin Collagen Transcripts in Hairless Mice

A. Young, C. Brownson, V. Neocleous, 1997, Photochemistry and photobiology.

The IVS1- 2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency

P. Philibert, C. Sultan, S. Lumbroso, 2010 .

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

C. Shammas, L. Phylactou, N. Skordis, 2014, Indian journal of endocrinology and metabolism.

Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea

A. Sertedaki, C. Shammas, L. Phylactou, 2011, Hormones.

RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2

C. Deltas, G. Portides, L. Phylactou, 2011, Journal of endocrinological investigation.

Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation.

T. Passalaris, C. Deltas, N. Skordis, 2004, Genetic testing.

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

M. Loizidou, C. Sismani, G. Tanteles, 2015, Journal of Genetics.

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients

R. Quinton, Jacques Young, M. A. Stefanija, 2018 .

GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype

P. Fanis, L. Phylactou, N. Skordis, 2017, Hormones.

Carrier frequencies of the common GJB 2 ( connexin-26 ) 35 delG mutation in the Greek-Turkish area : predominance of the mutation in Crete

G. Lucotte, L. Phylactou, V. Neocleous, 2009 .

Patient report

C. Shammas, L. Phylactou, V. Anastasiadou, 2013 .

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin

K. Mouzaki, P. Fanis, N. Skordis, 2017, Journal of clinical research in pediatric endocrinology.

Duplication of exons 3-10 of the HSD17B3 gene: a novel type of genetic defect underlying 17β-HSD-3 deficiency.

C. Sismani, P. Patsalis, A. Alexandrou, 2012, Gene.

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty

K. Michailidou, Nicolas C. Nicolaides, D. Vlachakis, 2021, Frontiers in Endocrinology.

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X

P. Deloukas, R. Durbin, J. Sulston, 2001, Nature.

Methylation status of hypothalamic Mkrn3 promoter across puberty

K. Michailidou, G. Spyrou, P. Fanis, 2023, Frontiers in Endocrinology.

A novel MKRN3 nonsense mutation causing familial central precocious puberty

M. Phelan, A. Christoforidis, P. Fanis, 2016, Endocrine.

RETproto-oncogenemutationsarerestrictedtocodon618 inCypriotfamilieswithmultipleendocrineneoplasia2

C. Deltas, G. Portides, L. Phylactou, 2011 .

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.

K. Kyriacou, K. Voskarides, A. Pierides, 2007, Journal of the American Society of Nephrology : JASN.

High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.

C. Panagi, L. Phylactou, V. Anastasiadou, 2006, Genetic testing.

CDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma

T. Kyriakides, C. Shammas, L. Phylactou, 2017, Journal of Genetics.

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek‐Cypriots, with emphasis on dehydration as presenting symptom

M. Tzetis, E. Kanavakis, C. Deltas, 2007, Clinical genetics.

Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation

M. Phelan, C. Shammas, C. Stylianou, 2016, Hormones.

Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia

P. Patsalis, V. Tardy, C. Shammas, 2010, Hormone Research in Paediatrics.

Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.

Y. Ioannou, L. Phylactou, N. Skordis, 2009, Clinical biochemistry.

High carrier frequency of 21‐hydroxylase deficiency in Cyprus

C. Shammas, N. Skordis, V. Neocleous, 2013, Clinical genetics.

Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.

S. Baumgartner-Parzer, A. Tukun, C. Oberkanins, 2012, Clinica chimica acta; international journal of clinical chemistry.

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin

C. Sismani, K. Tsangaras, G. Tanteles, 2016, Journal of Genetics.

Distal Hereditary Motor Neuronopathy of the Jerash Type

K. Kyriacou, K. Christodoulou, M. El-Khateeb, 1999, Annals of the New York Academy of Sciences.

A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands

C. Shammas, L. Phylactou, V. Anastasiadou, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands

C. Shammas, L. Phylactou, V. Anastasiadou, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

G. Spyrou, P. Fanis, L. Phylactou, 2019, Hormones.

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

P. Chanson, J. Bertherat, T. Battelino, 2022, European journal of endocrinology.

A report of 2 new cases of MODY2 and review of the literature: implications in the search for type 2 diabetes drugs.

L. Lian, M. Phelan, C. Shammas, 2013, Metabolism: clinical and experimental.

The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis

G. Tanteles, T. Kyriakides, C. Stylianou, 2018, Hormone and Metabolic Research.

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

M. Hauschild, R. Quinton, Jacques Young, 2017, Orphanet Journal of Rare Diseases.

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11

P. Yiallouros, C. Sismani, P. Patsalis, 2014, Case reports in genetics.

A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect

A. Hadjipanayis, P. Fanis, L. Phylactou, 2019, Journal of Genetics.

The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

P. Philibert, C. Sultan, S. Lumbroso, 2010, Journal of endocrinological investigation.

Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.

N. Mastroyiannopoulos, C. Shammas, L. Phylactou, 2012, Metabolism: clinical and experimental.

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

G. Tanteles, C. Shammas, L. Phylactou, 2014, Journal of Genetics.

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.

G. Portides, L. Phylactou, V. Anastasiadou, 2006, International journal of pediatric otorhinolaryngology.

Audiological features in Serbian patients with hearing impairment identified with c.35delG in the GJB2 gene

P. Fanis, L. Phylactou, V. Neocleous, 2021, Srpski arhiv za celokupno lekarstvo.

Prevalence of variants in DFNB1 locus in Serbian patients with autosomal recessive non-syndromic hearing loss

P. Fanis, L. Phylactou, V. Neocleous, 2022, Genetika.

Original Synthetic Report: Carrier frequencies of the common GJB2 (connexin-26) 35delG mutation in the Greek-Turkish area: predominance of the mutation in Crete

G. Lucotte, V. Neocleous, F. Diéterlen, 2010 .

Effects of growth hormone on heart structure and function in adolescence.

A. Jossif, C. Shammas, N. Skordis, 2012, Georgian medical news.

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

G. Tanteles, P. Fanis, L. Phylactou, 2023, Frontiers in Endocrinology.

Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene

P. Fanis, L. Phylactou, N. Skordis, 2022, Hormones.

Phenotype variability and different genotype of four patients with thyroid hormone resistance syndrome due to variants in the THRB gene.

G. Tanteles, P. Fanis, V. Neocleous, 2019, Hippokratia.

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.

K. Ohno, L. Middleton, M. Milone, 1999, Neurology.

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

M. Loizidou, C. Sismani, G. Tanteles, 2015, Journal Genetika.

Distal Hereditary Motor Neuronopathy of the Jerash Type

K. Kyriacou, K. Christodoulou, M. El-Khateeb, 1999, Annals of the New York Academy of Sciences.

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor ε-subunit gene

K. Ohno, L. Middleton, M. Milone, 1999, Neurology.

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report

P. Fanis, L. Phylactou, N. Skordis, 2023, Life.

Evidence of digenic inheritance in autoinflammation-associated genes

A. Hadjipanayis, G. Tanteles, C. Shammas, 2016, Journal of Genetics.

Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism

P. Fanis, L. Phylactou, N. Skordis, 2023, International journal of molecular sciences.

Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia

F. Baronio, L. Aksglaede, M. Cools, 2023, Endocrine connections.