Drousiotou A - Search Results

1

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. Drousiotou A, et al. Hum Genet. 2005 May;116(6):542. Hum Genet. 2005. PMID: 15991326 No abstract available.

2

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

3

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

4

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

5

Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.

Gururaj A, Sztriha L, Hertecant J, Johansen JG, Georgiou T, Campos Y, Drousiotou A, d'Azzo A. Gururaj A, et al. Among authors: drousiotou a. J Child Neurol. 2005 Jan;20(1):57-60. doi: 10.1177/08830738050200010901. J Child Neurol. 2005. PMID: 15791924

6

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

Georgiou T, Stylianidou G, Anastasiadou V, Caciotti A, Campos Y, Zammarchi E, Morrone A, D'azzo A, Drousiotou A. Georgiou T, et al. Among authors: drousiotou a. Genet Test. 2005 Summer;9(2):126-32. doi: 10.1089/gte.2005.9.126. Genet Test. 2005. PMID: 15943552

7

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. Drousiotou A, et al. Hum Genet. 2005 May;116(6):534. Hum Genet. 2005. PMID: 15988828 No abstract available.

8

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. Drousiotou A, et al. Hum Genet. 2005 May;116(6):542. Hum Genet. 2005. PMID: 15991327 No abstract available.

9

Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy.

Kleopa KA, Drousiotou A, Mavrikiou E, Ormiston A, Kyriakides T. Kleopa KA, et al. Among authors: drousiotou a. Hum Mol Genet. 2006 May 15;15(10):1623-8. doi: 10.1093/hmg/ddl083. Epub 2006 Apr 4. Hum Mol Genet. 2006. PMID: 16595608

10

Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.

Georgiou T, Chuang JL, Wynn RM, Stylianidou G, Korson M, Chuang DT, Drousiotou A. Georgiou T, et al. Among authors: drousiotou a. Genet Test Mol Biomarkers. 2009 Oct;13(5):657-64. doi: 10.1089/gtmb.2009.0065. Genet Test Mol Biomarkers. 2009. PMID: 19715473 Free PMC article.

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