Drousiotou A - Search Results

1

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. Drousiotou A, et al. Genet Test. 1998;2(1):55-60. doi: 10.1089/gte.1998.2.55. Genet Test. 1998. PMID: 10464597

2

No structural or biochemical evidence for mitochondrial cytopathy in a case of alternating hemiplegia of childhood.

Kyriakides T, Drousiotou A. Kyriakides T, et al. Among authors: drousiotou a. Ann Neurol. 1994 Nov;36(5):805-6. doi: 10.1002/ana.410360529. Ann Neurol. 1994. PMID: 7979233 No abstract available.

3

Dystrophinopathy presenting as congenital muscular dystrophy.

Kyriakides T, Gabriel G, Drousiotou A, Meznanic-Petrusa M, Middleton L. Kyriakides T, et al. Among authors: drousiotou a. Neuromuscul Disord. 1994 Jul;4(4):387-92. doi: 10.1016/0960-8966(94)90075-2. Neuromuscul Disord. 1994. PMID: 7981596

4

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. Hara Y, et al. Among authors: drousiotou a. Hum Genet. 1994 Aug;94(2):136-40. doi: 10.1007/BF00202858. Hum Genet. 1994. PMID: 8045559

5

Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.

Furihata K, Drousiotou A, Hara Y, Christopoulos G, Stylianidou G, Anastasiadou V, Ueno I, Ioannou P. Furihata K, et al. Among authors: drousiotou a. Hum Mutat. 1999;13(1):38-43. doi: 10.1002/(SICI)1098-1004(1999)13:1<38::AID-HUMU4>3.0.CO;2-S. Hum Mutat. 1999. PMID: 9888387

6

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, Anastasiadou V, Christopoulos G, Mavrikiou E, Georgiou T, Kalakoutis G, Oladimeji A, Hara Y, Suzuki K, Furihata K, Ueno I, Ioannou PA, Fensom AH. Drousiotou A, et al. Hum Genet. 2000 Jul;107(1):12-7. doi: 10.1007/s004390000324. Hum Genet. 2000. PMID: 10982028

7

Alpha-thalassaemia prenatal diagnosis by two PCR-based methods.

Kleanthous M, Kyriacou K, Kyrri A, Kalogerou E, Vassiliades P, Drousiotou A, Kallikas I, Ioannou P, Angastiniotis M. Kleanthous M, et al. Among authors: drousiotou a. Prenat Diagn. 2001 May;21(5):413-7. doi: 10.1002/pd.73. Prenat Diagn. 2001. PMID: 11360286

8

A comparative morphological study in 33 cases of respiratory chain encephalomyopathies.

Kyriakides T, Drousiotou A, Panasopoulou A, Hadjisavvas A, Zenios A, Hadjigeorgiou GM, Kyriacou K. Kyriakides T, et al. Among authors: drousiotou a. Acta Myol. 2003 Sep;22(2):48-51. Acta Myol. 2003. PMID: 14959563

9

Molecular characterization of G6PD deficiency in Cyprus.

Drousiotou A, Touma EH, Andreou N, Loiselet J, Angastiniotis M, Verrelli BC, Tishkoff SA. Drousiotou A, et al. Blood Cells Mol Dis. 2004 Jul-Aug;33(1):25-30. doi: 10.1016/j.bcmd.2004.03.004. Blood Cells Mol Dis. 2004. PMID: 15223006

10

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. Georgiou T, et al. Among authors: drousiotou a. Hum Mutat. 2004 Oct;24(4):352. doi: 10.1002/humu.9279. Hum Mutat. 2004. PMID: 15365997

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