Efstathiou E - Search Results

1

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

Neocleous V, Skordis N, Portides G, Efstathiou E, Costi C, Ioannou N, Pantzaris M, Anastasiadou V, Deltas C, Phylactou LA. Neocleous V, et al. Among authors: efstathiou e. J Endocrinol Invest. 2011 Nov;34(10):764-9. doi: 10.3275/7605. Epub 2011 Mar 21. J Endocrinol Invest. 2011. PMID: 21422799

2

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

Skordis N, Neocleous V, Kyriakou A, Efstathiou E, Sertedaki A, Philibert P, Phylactou LA, Lumbroso S, Sultan C. Skordis N, et al. Among authors: efstathiou e. J Endocrinol Invest. 2010 Dec;33(11):810-4. doi: 10.1007/BF03350347. Epub 2010 May 28. J Endocrinol Invest. 2010. PMID: 20511729

3

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

Skordis N, Shammas C, Efstathiou E, Kaffe K, Neocleous V, Phylactou LA. Skordis N, et al. Among authors: efstathiou e. Clin Biochem. 2011 Aug;44(12):959-63. doi: 10.1016/j.clinbiochem.2011.05.013. Epub 2011 May 24. Clin Biochem. 2011. PMID: 21635882

4

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: efstathiou e. 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.

5

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

Fanis P, Efstathiou E, Neocleous V, Phylactou LA, Hadjipanayis A. Fanis P, et al. Among authors: efstathiou e. J Genet. 2019 Mar;98:5. J Genet. 2019. PMID: 30945685 Free article.

6

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

Skordis N, Shammas C, Efstathiou E, Sertedaki A, Neocleous V, Phylactou L. Skordis N, et al. Among authors: efstathiou e. Hormones (Athens). 2011 Jul-Sep;10(3):230-5. doi: 10.14310/horm.2002.1313. Hormones (Athens). 2011. PMID: 22001134 Free article.

7

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

Neocleous V, Skordis N, Shammas C, Efstathiou E, Mastroyiannopoulos NP, Phylactou LA. Neocleous V, et al. Among authors: efstathiou e. Metabolism. 2012 Jul;61(7):922-30. doi: 10.1016/j.metabol.2012.01.005. Epub 2012 Mar 3. Metabolism. 2012. PMID: 22386940 Review.

8

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

Neocleous V, Sismani C, Shammas C, Efstathiou E, Alexandrou A, Ioannides M, Argyrou M, Patsalis PC, Phylactou LA, Skordis N. Neocleous V, et al. Among authors: efstathiou e. Gene. 2012 May 15;499(2):250-5. doi: 10.1016/j.gene.2012.03.031. Epub 2012 Mar 13. Gene. 2012. PMID: 22445608

9

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

Skordis N, Efstathiou E, Kyriakides TC, Savvidou A, Savva SC, Phylactou LA, Shammas C, Neocleous V. Skordis N, et al. Among authors: efstathiou e. Hormones (Athens). 2012 Jan-Mar;11(1):86-93. doi: 10.1007/BF03401541. Hormones (Athens). 2012. PMID: 22450348 Free article.

10

Hormonal dysregulation and bones in thalassaemia--an overview.

Skordis N, Efstathiou E, Kyriakou A, Toumba M. Skordis N, et al. Among authors: efstathiou e. Pediatr Endocrinol Rev. 2008 Oct;6 Suppl 1:107-15. Pediatr Endocrinol Rev. 2008. PMID: 19337163 Review.

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