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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A, Theodosiou A, Alexandrou A, Papaevripidou I, Sismani C, Jacobs EH, Ruijter GJG, Anastasiadou V, Ourani S, Athanasiou E, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. Among authors: drousiotou a. Mol Genet Metab Rep. 2023 Aug 7;36:100997. doi: 10.1016/j.ymgmr.2023.100997. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37600231 Free PMC article.
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance.
Tishkoff SA, Varkonyi R, Cahinhinan N, Abbes S, Argyropoulos G, Destro-Bisol G, Drousiotou A, Dangerfield B, Lefranc G, Loiselet J, Piro A, Stoneking M, Tagarelli A, Tagarelli G, Touma EH, Williams SM, Clark AG. Tishkoff SA, et al. Among authors: drousiotou a. Science. 2001 Jul 20;293(5529):455-62. doi: 10.1126/science.1061573. Epub 2001 Jun 21. Science. 2001. PMID: 11423617
The cypriot and Iranian National Mutation Frequency Databases.
Kleanthous M, Patsalis PC, Drousiotou A, Motazacker M, Christodoulou K, Cariolou M, Baysal E, Khrizi K, Moghimi B, Pourfarzad F, van Baal S, Deltas C, Najmabadi H, Patrinos GP. Kleanthous M, et al. Among authors: drousiotou a. Hum Mutat. 2006 Jun;27(6):598-9. doi: 10.1002/humu.9422. Hum Mutat. 2006. PMID: 16705699
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.
Papachristoforou R, Petrou PP, Sawyer H, Williams M, Drousiotou A. Papachristoforou R, et al. Among authors: drousiotou a. JIMD Rep. 2014;12:91-8. doi: 10.1007/8904_2013_249. Epub 2013 Sep 4. JIMD Rep. 2014. PMID: 24002815 Free PMC article.
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. Among authors: drousiotou a. 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.
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Sala PR, Ruijter G, Acquaviva C, Chabli A, de Sain-van der Velden MG, Garcia-Villoria J, Heiner-Fokkema MR, Jeannesson-Thivisol E, Leckstrom K, Franzson L, Lynes G, Olesen J, Onkenhout W, Petrou P, Drousiotou A, Ribes A, Vianey-Saban C, Merinero B. Sala PR, et al. Among authors: drousiotou a. JIMD Rep. 2016;30:23-31. doi: 10.1007/8904_2016_533. Epub 2016 Feb 23. JIMD Rep. 2016. PMID: 26898293 Free PMC article.
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