Haplotype Diversity and Linkage Disequilibrium at Human G6PD: Recent Origin of Alleles That Confer Malarial Resistance
Tishkoff, Sarah A., Varkonyi, Robert, Cahinhinan, Nelie, Abbes, Salem, Argyropoulos, George, Destro-Bisol, Giovanni, Drousiotou, Anthi, Dangerfield, Bruce, Lefranc, Gerard, Loiselet, Jacques, Piro, Anna, Stoneking, Mark, Tagarelli, Antonio, Tagarelli, Giuseppe, Touma, Elias H., Williams, Scott M., Clark, Andrew G.
Published in Science (American Association for the Advancement of Science) (20.07.2001)
Published in Science (American Association for the Advancement of Science) (20.07.2001)
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Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches
Drousiotou, A, DiMeo, I, Mineri, R, Georgiou, Th, Stylianidou, G, Tiranti, V
Published in Clinical genetics (01.04.2011)
Published in Clinical genetics (01.04.2011)
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P10 Preimplantation genetic diagnosis for the first family with Tay–Sachs disease in Cyprus
Christopoulos, G, Georgiou, T, Anastasiadou, V, Spanou, E, Mavrikiou, G, Drousiotou, A, Kleanthous, M
Published in Reproductive biomedicine online (01.05.2012)
Published in Reproductive biomedicine online (01.05.2012)
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Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum
Sala, P. Ruiz, Ruijter, G., Acquaviva, C., Chabli, A., de Sain-van der Velden, M. G. M., Garcia-Villoria, J., Heiner-Fokkema, M. R., Jeannesson-Thivisol, E., Leckstrom, K., Franzson, L., Lynes, G., Olesen, J., Onkenhout, W., Petrou, P., Drousiotou, A., Ribes, A., Vianey-Saban, C., Merinero, B.
Published in JIMD Reports, Volume 30 (01.01.2016)
Published in JIMD Reports, Volume 30 (01.01.2016)
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Book Chapter
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Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis
Georgiou, T., Drousiotou, A., Campos, Y., Caciotti, A., Sztriha, L., Gururaj, A., Ozand, P., Zammarchi, E., Morrone, A., D'Azzo, A.
Published in Human mutation (01.10.2004)
Published in Human mutation (01.10.2004)
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Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis
Georgiou, T., Drousiotou, A., Campos, Y., Caciotti, A., Sztriha, L., Gururaj, A., Ozand, P., Zammarchi, E., Morrone, A., D'Azzo, A.
Published in Human mutation (01.12.2004)
Published in Human mutation (01.12.2004)
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Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
Drousiotou, A, Georgiou, T, Drousiotou, A, Campos, Y, Caciotti, A, Sztriha, L, Gururaj, A, Ozand, P, Zammarchi, E, Morrone, A, d Azzo, A
Published in Human genetics (01.05.2005)
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Published in Human genetics (01.05.2005)
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Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
Drousiotou, A, Georgiou, T, Drousiotou, A, Campos, Y, Caciotti, A, Sztriha, L, Gururaj, A, Ozand, P, Zammarchi, E, Morrone, A, d Azzo, A
Published in Human genetics (01.05.2005)
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Published in Human genetics (01.05.2005)
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Alpha-thalassaemia prenatal diagnosis by two PCR-based methods
Kleanthous, M., Kyriacou, K., Kyrri, A., Kalogerou, E., Vassiliades, PH, Drousiotou, A., Kallikas, I., Ioannou, P., Angastiniotis, M.
Published in Prenatal diagnosis (01.05.2001)
Published in Prenatal diagnosis (01.05.2001)
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A comparative morphological study in 33 cases of respiratory chain encephalomyopathies
Kyriakides, T, Drousiotou, A, Panasopoulou, A, Hadjisavvas, A, Zenios, A, Hadjigeorgiou, G M, Kyriacou, K
Published in Acta myologica (01.09.2003)
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Published in Acta myologica (01.09.2003)
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Evidence for Balancing Selection from Nucleotide Sequence Analyses of Human G6PD
Verrelli, Brian C., McDonald, John H., Argyropoulos, George, Destro-Bisol, Giovanni, Froment, Alain, Drousiotou, Anthi, Lefranc, Gerard, Helal, Ahmed N., Loiselet, Jacques, Tishkoff, Sarah A.
Published in American journal of human genetics (01.11.2002)
Published in American journal of human genetics (01.11.2002)
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Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus
Drousiotou, A, Ioannou, P, Georgiou, T, Mavrikiou, E, Christopoulos, G, Kyriakides, T, Voyasianos, M, Argyriou, A, Middleton, L
Published in Genetic testing (1998)
Published in Genetic testing (1998)
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Journal Article
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
Drousiotou, A, Georgiou, T, Drousiotou, A, Campos, Y, Caciotti, A, Sztriha, L, Gururaj, A, Ozand, P, Zammarchi, E, Morrone, A, d Azzo, A
Published in Human genetics (01.05.2005)
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Published in Human genetics (01.05.2005)
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Sandhoff disease in Cyprus : population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community
DROUSIOTOU, A, STYLIANIDOU, G, FURIHATA, K, UENO, I, IOANNOU, P. A, FENSOM, A. H, ANASTASIADOU, V, CHRISTOPOULOS, G, MAVRIKIOU, E, GEORGIOU, T, KALAKOUTIS, G, OLADIMEJI, A, HARA, Y, SUZUKI, K
Published in Human genetics (01.07.2000)
Published in Human genetics (01.07.2000)
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Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease
Furihata, Kenichi, Drousiotou, Anthi, Hara, Yoji, Christopoulos, George, Stylianidou, Goula, Anastasiadou, Violetta, Ueno, Ichiro, Ioannou, Panos
Published in Human mutation (1999)
Published in Human mutation (1999)
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Journal Article
Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus
Hara, Y, Ioannou, P, Drousiotou, A, Stylianidou, G, Anastasiadou, V, Suzuki, K
Published in Human genetics (01.08.1994)
Published in Human genetics (01.08.1994)
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Journal Article
Dystrophinopathy presenting as congenital muscular dystrophy
Kyriakides, Theodore, Gabriel, Gabriel, Drousiotou, Anthi, Meznanic-Petrusa, Mija, Middleton, Lefkos
Published in Neuromuscular disorders : NMD (01.07.1994)
Published in Neuromuscular disorders : NMD (01.07.1994)
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The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village
Georgiou, Theodoros, Stylianidou, Goula, Anastasiadou, Violetta, Caciotti, Anna, Campos, Yvan, Zammarchi, Enrico, Morrone, Amelia, D'azzo, Alessandra, Drousiotou, Anthi
Published in Genetic testing (01.06.2005)
Published in Genetic testing (01.06.2005)
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