C. Costi

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.

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.

Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus.

A. Pierides, P. Koupepidou, C. Deltas, 2002, Genetic testing.

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.

Evidence of digenic inheritance in autoinflammation-associated genes

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

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.

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.

RETproto-oncogenemutationsarerestrictedtocodon618 inCypriotfamilieswithmultipleendocrineneoplasia2

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

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.

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.

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

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

Evidence of digenic inheritance in autoinflammation-associated genes

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