Skordis N - Search Results

1

High carrier frequency of 21-hydroxylase deficiency in Cyprus.

Phedonos AA, Shammas C, Skordis N, Kyriakides TC, Neocleous V, Phylactou LA. Phedonos AA, et al. Among authors: skordis n. Clin Genet. 2013 Dec;84(6):585-8. doi: 10.1111/cge.12153. Epub 2013 Apr 22. Clin Genet. 2013. PMID: 23600966

2

Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.

Xenophontos SL, Pierides A, Demetriou K, Avraamides P, Manoli P, Ayrton N, Skordis N, Anastasiadou V, Miltiadous G, Cariolou MA. Xenophontos SL, et al. Among authors: skordis n. Hum Mutat. 2000 Apr;15(4):380. doi: 10.1002/(SICI)1098-1004(200004)15:4<380::AID-HUMU11>3.0.CO;2-T. Hum Mutat. 2000. PMID: 10737984

3

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

Neocleous V, Passalaris T, Spanou E, Kitsios P, Skordis N, Deltas CC. Neocleous V, et al. Among authors: skordis n. Genet Test. 2004 Summer;8(2):163-8. doi: 10.1089/gte.2004.8.163. Genet Test. 2004. PMID: 15345114

4

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

Neocleous V, Ioannou YS, Bartsota M, Costi C, Skordis N, Phylactou LA. Neocleous V, et al. Among authors: skordis n. Clin Biochem. 2009 Sep;42(13-14):1363-7. doi: 10.1016/j.clinbiochem.2009.05.015. Epub 2009 Jun 6. Clin Biochem. 2009. PMID: 19501079

5

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. J Endocrinol Invest. 2010 Dec;33(11):810-4. doi: 10.1007/BF03350347. Epub 2010 May 28. J Endocrinol Invest. 2010. PMID: 20511729

6

Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.

Skordis N, Kyriakou A, Tardy V, Ioannou YS, Varvaresou A, Dracopoulou-Vabouli M, Patsalis PC, Shammas C, Neocleous V, Phylactou LA. Skordis N, et al. Horm Res Paediatr. 2011;75(3):180-6. doi: 10.1159/000320040. Epub 2010 Sep 14. Horm Res Paediatr. 2011. PMID: 20838032

7

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: skordis n. J Endocrinol Invest. 2011 Nov;34(10):764-9. doi: 10.3275/7605. Epub 2011 Mar 21. J Endocrinol Invest. 2011. PMID: 21422799

8

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. 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

9

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. Hormones (Athens). 2011 Jul-Sep;10(3):230-5. doi: 10.14310/horm.2002.1313. Hormones (Athens). 2011. PMID: 22001134 Free article.

10

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: skordis n. Metabolism. 2012 Jul;61(7):922-30. doi: 10.1016/j.metabol.2012.01.005. Epub 2012 Mar 3. Metabolism. 2012. PMID: 22386940 Review.

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