Costi C - Search Results

1

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.

Yiallouros PK, Matthaiou AΜ, Anagnostopoulou P, Kouis P, Libik M, Adamidi T, Eleftheriou A, Demetriou A, Ioannou P, Tanteles GA, Costi C, Fanis P, Macek M, Neocleous V, Phylactou LA. Yiallouros PK, et al. Among authors: costi c. Orphanet J Rare Dis. 2021 Oct 2;16(1):409. doi: 10.1186/s13023-021-02049-z. Orphanet J Rare Dis. 2021. PMID: 34600583 Free PMC article.

2

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

Neocleous V, Yiallouros PK, Tanteles GA, Costi C, Moutafi M, Ioannou P, Patsalis PC, Sismani C, Phylactou LA. Neocleous V, et al. Among authors: costi c. Case Rep Genet. 2014;2014:613863. doi: 10.1155/2014/613863. Epub 2014 Feb 6. Case Rep Genet. 2014. PMID: 24649380 Free PMC article.

3

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.

Neocleous V, Costi C, Shammas C, Spanou E, Anastasiadou V, Tanteles GA, Phylactou LA. Neocleous V, et al. Among authors: costi c. J Genet. 2014 Aug;93(2):471-6. doi: 10.1007/s12041-014-0365-0. J Genet. 2014. PMID: 25189242 No abstract available.

4

Evidence of digenic inheritance in autoinflammation-associated genes.

Neocleous V, Byrou S, Toumba M, Costi C, Shammas C, Kyriakou C, Christophidou-Anastasiadou V, Tanteles GA, Hadjipanayis A, Phylactou LA. Neocleous V, et al. Among authors: costi c. J Genet. 2016 Dec;95(4):761-766. doi: 10.1007/s12041-016-0691-5. J Genet. 2016. PMID: 27994174

5

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

Koulermou G, Shammas C, Vassiliou A, Kyriakides TC, Costi C, Neocleous V, Phylactou LA, Pantelidou M. Koulermou G, et al. Among authors: costi c. J Genet. 2017 Mar;96(1):155-160. doi: 10.1007/s12041-017-0742-6. J Genet. 2017. PMID: 28360400

6

Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.

Neocleous V, Costi C, Kyriakou C, Kyriakides TC, Shammas C, Skordis N, Toumba M, Kyriakou S, Koliou M, Kousparou M, Onoufriou M, Hadjipanayis A, Iasonides M, Atamyan VN, Pierides A, Christophidou-Anastasiadou V, Tanteles GA, Phylactou LA. Neocleous V, et al. Among authors: costi c. Ann Hum Genet. 2015 Jan;79(1):20-7. doi: 10.1111/ahg.12087. Epub 2014 Nov 13. Ann Hum Genet. 2015. PMID: 25393764

7

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

Shammas C, Neocleous V, Toumba M, Costi C, Phedonos AA, Efstathiou E, Kyriakou A, Phylactou LA, Skordis N. Shammas C, et al. Among authors: costi c. Genet Test Mol Biomarkers. 2012 Sep;16(9):1073-9. doi: 10.1089/gtmb.2011.0381. Epub 2012 Aug 2. Genet Test Mol Biomarkers. 2012. PMID: 22857144 Review.

8

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

Yiallouros PK, Neocleous V, Zeniou M, Adamidou T, Costi C, Christophi C, Tzetis M, Kanavakis E, Deltas C. Yiallouros PK, et al. Among authors: costi c. Clin Genet. 2007 Mar;71(3):290-2. doi: 10.1111/j.1399-0004.2007.00760.x. Clin Genet. 2007. PMID: 17309655 No abstract available.

9

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

Deltas CC, Mean R, Rossou E, Costi C, Koupepidou P, Hadjiyanni I, Hadjiroussos V, Petrou P, Pierides A, Lamnisou K, Koptides M. Deltas CC, et al. Among authors: costi c. Genet Test. 2002 Spring;6(1):15-21. doi: 10.1089/109065702760093861. Genet Test. 2002. PMID: 12180071

10

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

Bouba I, Koptides M, Mean R, Costi CE, Demetriou K, Georgiou I, Pierides A, Siamopoulos K, Deltas CC. Bouba I, et al. Among authors: costi ce. Eur J Hum Genet. 2001 Sep;9(9):677-84. doi: 10.1038/sj.ejhg.5200696. Eur J Hum Genet. 2001. PMID: 11571556

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