Biochemical Genetics Publications

Selected Publications

 

Tishkoff SA, Varkony R, Cahinihan 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 and Clark AG (2001). "Haplotype diversity and linkage disequilibrium at human G6PD: Recent origin of alleles that confer malarial resistance". Science, 293:455-461.

Drousiotou A, Stylianidou G, Anastasiadou V, Christopoulos G, Mavrikiou E,Georgiou Th, Kalakoutis G, Oladimeji A, Hara Y, Suzuki K, Furihata K, Ueno I,Ioannou P and Fensom A (2000). "Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the maronite community". Hum Genet, 107:12-17. 

 Furihata K, Drousiotou A, Hara Y, Christopoulos G, Stylianidou G, Anastasiadou V, Ueno I and Ioannou P. (1999). "Novel splice site mutation at IVS8 nt5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease". Human Mutation 13:38-43.

Drousiotou A, Ioannou P, Georgiou T, Mavrikiou E, Christopoulos G, Kyriakides T, Voyasianos M, Argyriou A, Middleton L. (1998). "Neonatal screening for duchenne muscular dystrophy: A novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus". Genetic Testing 2:55-60. 

 Kyriakides T, Gabriel G, Drousiotou A, Meznaric-Petrusa M, and Middleton L.(1994). Dystrophinopathy presenting as congenital muscular dystrophy". Neuromusc. Disord 4:387-392.

Hara Y, Ioannou P, Drousiotou A, Stylianidou G, Anastasiadou V, Suzuki K. (1994). " Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus". Hum Genet 94:136-140

Kyriakides T and Drousiotou A. (1994). " No structural or biochemical evidence for mitochondrial cytopathy in a case of alternating hemiplegia of childhood". Ann Neurol 36:805-806.