Georgiou T - Search Results

1

The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.

Georgiou T, Ho G, Vogazianos M, Dionysiou M, Nicolaou A, Chappa G, Nicolaides P, Stylianidou G, Christodoulou J, Drousiotou A. Georgiou T, et al. Clin Biochem. 2012 May;45(7-8):588-92. doi: 10.1016/j.clinbiochem.2012.01.026. Epub 2012 Feb 4. Clin Biochem. 2012. PMID: 22330942

2

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

Georgiou T, Stylianidou G, Anastasiadou V, Caciotti A, Campos Y, Zammarchi E, Morrone A, D'azzo A, Drousiotou A. Georgiou T, et al. Genet Test. 2005 Summer;9(2):126-32. doi: 10.1089/gte.2005.9.126. Genet Test. 2005. PMID: 15943552

3

Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.

Georgiou T, Chuang JL, Wynn RM, Stylianidou G, Korson M, Chuang DT, Drousiotou A. Georgiou T, et al. Genet Test Mol Biomarkers. 2009 Oct;13(5):657-64. doi: 10.1089/gtmb.2009.0065. Genet Test Mol Biomarkers. 2009. PMID: 19715473 Free PMC article.

4

Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

Georgiou T, Nicolaidou P, Hadjichristou A, Ioannou R, Dionysiou M, Siama E, Chappa G, Anastasiadou V, Drousiotou A. Georgiou T, et al. Clin Biochem. 2014 Sep;47(13-14):1300-5. doi: 10.1016/j.clinbiochem.2014.06.017. Epub 2014 Jun 25. Clin Biochem. 2014. PMID: 24973495

5

The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

Georgiou T, Christopoulos G, Anastasiadou V, Hadjiloizou S, Cregeen D, Jackson M, Mavrikiou G, Kleanthous M, Drousiotou A. Georgiou T, et al. Meta Gene. 2014 Feb 19;2:200-5. doi: 10.1016/j.mgene.2014.01.007. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606403 Free PMC article.

6

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.

Georgiou T, Mavrikiou G, Alexandrou A, Spanou-Aristidou E, Savva I, Christodoulides T, Krasia M, Christophidou-Anastasiadou V, Sismani C, Drousiotou A, Tanteles GA. Georgiou T, et al. Case Rep Genet. 2016;2016:5208312. doi: 10.1155/2016/5208312. Epub 2016 Mar 30. Case Rep Genet. 2016. PMID: 27123349 Free PMC article.

7

Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.

Mavrikiou G, Petrou P, Georgiou T, Drousiotou A. Mavrikiou G, et al. Among authors: georgiou t. Clin Biochem. 2016 Aug;49(12):885-9. doi: 10.1016/j.clinbiochem.2016.03.013. Epub 2016 Apr 26. Clin Biochem. 2016. PMID: 27129798

8

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.

Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M, Michelakakis H, Prokopiou C, Drousiotou A. Malekkou A, et al. Among authors: georgiou t. Mol Genet Genomic Med. 2020 Mar;8(3):e1090. doi: 10.1002/mgg3.1090. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943857 Free PMC article.

9

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.

Malekkou A, Tomazou M, Mavrikiou G, Dionysiou M, Georgiou T, Papaevripidou I, Alexandrou A, Sismani C, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. Among authors: georgiou t. BMC Med Genomics. 2024 Mar 25;17(1):78. doi: 10.1186/s12920-024-01846-2. BMC Med Genomics. 2024. PMID: 38528593 Free PMC article.

10

Inherited metabolic disorders in Cyprus.

Georgiou T, Petrou PP, Malekkou A, Ioannou I, Gavatha M, Skordis N, Nicolaidou P, Savvidou I, Athanasiou E, Ourani S, Papamichael E, Vogazianos M, Dionysiou M, Mavrikiou G, Grafakou O, Tanteles GA, Anastasiadou V, Drousiotou A. Georgiou T, et al. Mol Genet Metab Rep. 2024 Apr 23;39:101083. doi: 10.1016/j.ymgmr.2024.101083. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38694234 Free PMC article.

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