Search Results - "Drousiotou, A"

Haplotype Diversity and Linkage Disequilibrium at Human G6PD: Recent Origin of Alleles That Confer Malarial Resistance by 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.

“…The frequencies of low-activity alleles of glucose-6-phosphate dehydrogenase in humans are highly correlated with the prevalence of malaria. These "deficiency"…”
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Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches by Drousiotou, A, DiMeo, I, Mineri, R, Georgiou, Th, Stylianidou, G, Tiranti, V

“…Drousiotou A, DiMeo I, Mineri R, Georgiou Th, Stylianidou G, Tiranti V. Ethylmalonic encephalopathy: application of improved biochemical and molecular…”
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P10 Preimplantation genetic diagnosis for the first family with Tay–Sachs disease in Cyprus by Christopoulos, G, Georgiou, T, Anastasiadou, V, Spanou, E, Mavrikiou, G, Drousiotou, A, Kleanthous, M

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Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum by 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.

“…The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the monitoring of treatment of organic…”
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Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis by Georgiou, T., Drousiotou, A., Campos, Y., Caciotti, A., Sztriha, L., Gururaj, A., Ozand, P., Zammarchi, E., Morrone, A., D'Azzo, A.

“…GM1‐gangliosidosis is a lysosomal storage disorder caused by a deficiency of β‐galactosidase. It is mainly characterized by progressive neurodegeneration and…”
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Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis by Georgiou, T., Drousiotou, A., Campos, Y., Caciotti, A., Sztriha, L., Gururaj, A., Ozand, P., Zammarchi, E., Morrone, A., D'Azzo, A.

“…The original article to which this Erratum refers was published in Human Mutation 24:352Human Mutation(2004) 24(4) 352 In the original published version of…”
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Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile by Drousiotou, A, Georgiou, T, Drousiotou, A, Campos, Y, Caciotti, A, Sztriha, L, Gururaj, A, Ozand, P, Zammarchi, E, Morrone, A, d Azzo, A

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Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile by Drousiotou, A, Georgiou, T, Drousiotou, A, Campos, Y, Caciotti, A, Sztriha, L, Gururaj, A, Ozand, P, Zammarchi, E, Morrone, A, d Azzo, A

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Alpha-thalassaemia prenatal diagnosis by two PCR-based methods by Kleanthous, M., Kyriacou, K., Kyrri, A., Kalogerou, E., Vassiliades, PH, Drousiotou, A., Kallikas, I., Ioannou, P., Angastiniotis, M.

“…In Cyprus all couples carrying α0‐thalassaemia mutations are detected in the course of the thalassaemia carrier screening program and prenatal diagnosis is…”
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A comparative morphological study in 33 cases of respiratory chain encephalomyopathies by Kyriakides, T, Drousiotou, A, Panasopoulou, A, Hadjisavvas, A, Zenios, A, Hadjigeorgiou, G M, Kyriacou, K

“…Mitochondrial encephalomyopathies (ME) are clinically and genetically heterogeneous syndromes ranging from pure myopathies to complex multisystem disorders…”
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Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy by Kleopa, Kleopas A., Drousiotou, Anthi, Mavrikiou, Eleni, Ormiston, Annita, Kyriakides, Theodoros

“…Although there is good experimental data that utrophin, the autosomal analog of dystrophin, can ameliorate the phenotype in dystrophinopathies, there is scant…”
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Evidence for Balancing Selection from Nucleotide Sequence Analyses of Human G6PD by 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.

“…Glucose-6-phosphate dehydrogenase ( G6PD) mutations that result in reduced enzyme activity have been implicated in malarial resistance and constitute one of…”
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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 by Drousiotou, A, Ioannou, P, Georgiou, T, Mavrikiou, E, Christopoulos, G, Kyriakides, T, Voyasianos, M, Argyriou, A, Middleton, L

“…The objectives of this study were to evaluate a novel semiquantitative application of the bioluminescence test for screening newborns for Duchenne muscular…”
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Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile by Drousiotou, A, Georgiou, T, Drousiotou, A, Campos, Y, Caciotti, A, Sztriha, L, Gururaj, A, Ozand, P, Zammarchi, E, Morrone, A, d Azzo, A

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No structural or biochemical evidence for mitochondrial cytopathy in a case of alternating hemiplegia of childhood by Kyriakides, T, Drousiotou, A

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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 by 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

“…In the last 15 years, four patients with the infantile form of Sandhoff disease were diagnosed in four different families in Cyprus (population 703,000, birth…”
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Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease by Furihata, Kenichi, Drousiotou, Anthi, Hara, Yoji, Christopoulos, George, Stylianidou, Goula, Anastasiadou, Violetta, Ueno, Ichiro, Ioannou, Panos

“…Sandhoff disease is caused by abnormalities in HEXB gene encoding the β‐subunit of β‐hexosaminidase. In this study, we analyzed the HEXB gene of a Sandhoff…”
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Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus by HARA, Y, IOANNOU, P, DROUSIOTOU, A, STYLIANIDOU, G, ANASTASIADOU, V, SUZUKI, K

“…Sandhoff disease occurs in the Christian Maronite community in Cyprus, a community that established over a thousand years ago. Nowadays, this community…”
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Dystrophinopathy presenting as congenital muscular dystrophy by Kyriakides, T, Gabriel, G, Drousiotou, A, Meznanic-Petrusa, M, Middleton, L

“…We report a 3 1/2-year-old boy with congenital hypotonia, calf pseudohypertrophy, markedly delayed motor milestones and joint contractures. He was initially…”
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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 by Georgiou, Theodoros, Stylianidou, Goula, Anastasiadou, Violetta, Caciotti, Anna, Campos, Yvan, Zammarchi, Enrico, Morrone, Amelia, D'azzo, Alessandra, Drousiotou, Anthi

“…GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and…”
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