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Results: 1-25/26
Authors:
Grattan-Smith, PJ
Healey, S
Grigg, JR
Christodoulou, J
Citation: Pj. Grattan-smith et al., Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation, J PAEDIAT C, 37(1), 2001, pp. 81-84
Authors:
Ellaway, C
Christodoulou, J
Citation: C. Ellaway et J. Christodoulou, Rett syndrome: clinical characteristics and recent genetic advances, DISABIL REH, 23(3-4), 2001, pp. 98-106
Authors:
Ellaway, CJ
Badawi, N
Raffaele, L
Christodoulou, J
Leonard, H
Citation: Cj. Ellaway et al., A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening, CLIN DYSMOR, 10(3), 2001, pp. 185-188
Authors:
Kerr, AM
Nomura, Y
Armstrong, D
Anvret, M
Belichenko, PV
Budden, S
Cass, H
Christodoulou, J
Clarke, A
Ellaway, C
d'Esposito, M
Francke, U
Hulten, M
Julu, P
Leonard, H
Naidu, S
Schanen, C
Webb, T
Engerstrom, IW
Yamashita, Y
Segawa, M
Citation: Am. Kerr et al., Guidelines for reporting clinical features in cases with MECP2 mutations, BRAIN DEVEL, 23(4), 2001, pp. 208-211
Authors:
Alexopoulos, D
Toulgaridis, T
Sitafidis, G
Christodoulou, J
Stathopoulos, C
Hahalis, G
Citation: D. Alexopoulos et al., Coronary arteriographic findings in symptomatic and asymptomatic subjects with coronary artery calcification, INT J CARD, 80(2-3), 2001, pp. 117-121
Authors:
Leonard, H
Fyfe, S
Dye, D
Hockey, A
Christodoulou, J
Citation: H. Leonard et al., Family data in Rett syndrome: Association with other genetic disorders, J PAEDIAT C, 36(4), 2000, pp. 336-339
Authors:
Carpenter, KH
Wilcken, B
Christodoulou, J
Thorburn, DR
Citation: Kh. Carpenter et al., Holocarboxylase synthetase deficiency: Urinary metabolites masked by grossketosis, J INH MET D, 23(8), 2000, pp. 845-846
Authors:
Vitart, V
Christodoulou, J
Huang, JF
Chazin, WJ
Harper, JF
Citation: V. Vitart et al., Intramolecular activation of a Ca2+-dependent protein kinase is disrupted by insertions in the tether that connects the calmodulin-like domain to thekinase (vol 39, pg 4004, 2000), BIOCHEM, 39(39), 2000, pp. 12102-12102
Authors:
Vitart, V
Christodoulou, J
Huang, JF
Chazin, WJ
Harper, JF
Citation: V. Vitart et al., Intramolecular activation of a Ca2+-dependent protein kinase is disrupted by insertions in the tether that connects the calmodulin-like domain to thekinase, BIOCHEM, 39(14), 2000, pp. 4004-4011
Authors:
Stone, DL
Carey, WF
Christodoulou, J
Sillence, D
Nelson, P
Callahan, M
Tayebi, N
Sidransky, E
Citation: Dl. Stone et al., Type 2 Gaucher disease: the collodion baby phenotype revisited, ARCH DIS CH, 82(2), 2000, pp. F163-F166
Authors:
Alexopoulos, D
Toulgaridis, T
Sitafidis, G
Christodoulou, J
Stathopoulos, C
Hahalis, G
Citation: D. Alexopoulos et al., Relation of coronary artery calcium to exercise testing in healthy subjects, AM J CARD, 86(4), 2000, pp. 467
Authors:
Ellaway, C
Christodoulou, J
Citation: C. Ellaway et J. Christodoulou, Rett syndrome: Clinical update and review of recent genetic advances, J PAEDIAT C, 35(5), 1999, pp. 419-426
Authors:
Williams, GD
Christodoulou, J
Stack, J
Symons, P
Wert, SE
Murrell, MJ
Nogee, LM
Citation: Gd. Williams et al., Surfactant protein B deficiency: Clinical, histological and molecular evaluation, J PAEDIAT C, 35(2), 1999, pp. 214-220
Authors:
Williams, AJ
Murrell, M
Brammah, S
Minchenko, J
Christodoulou, J
Citation: Aj. Williams et al., A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G, HUM MOL GEN, 8(9), 1999, pp. 1691-1697
Authors:
Williams, AJ
Coakley, JC
Christodoulou, J
Citation: Aj. Williams et al., Flow cytometric evaluation of defects of the mitochondrial respiratory chain, J CHILD NEU, 14(8), 1999, pp. 518-523
Authors:
Ellaway, C
Williams, K
Leonard, H
Higgins, G
Wilcken, B
Christodoulou, J
Citation: C. Ellaway et al., Rett Syndrome: Randomized controlled trial of L-carnitine, J CHILD NEU, 14(3), 1999, pp. 162-167
Authors:
Spiropoulos, K
Charokopos, N
Petsas, T
Trakada, G
Dougenis, D
Mazarakis, A
Christodoulou, J
Peristerakis, A
Ginopoulos, P
Mastronikolis, N
Alexopoulos, D
Citation: K. Spiropoulos et al., Non-invasive estimation of pulmonary arterial hypertension in chronic obstructive pulmonary disease, LUNG, 177(2), 1999, pp. 65-75
Authors:
Flower, HM
Christodoulou, J
Citation: Hm. Flower et J. Christodoulou, Phase equilibria and transformations in titanium aluminides, MATER SCI T, 15(1), 1999, pp. 45-52
Authors:
McQuade, L
Christodoulou, J
Budarf, M
Sachdev, R
Wilson, M
Emanuel, B
Colley, A
Citation: L. Mcquade et al., Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR), AM J MED G, 86(1), 1999, pp. 27-33
Authors:
Leonard, H
Thomson, M
Glasson, E
Fyfe, S
Leonard, S
Ellaway, C
Christodoulou, J
Bower, C
Citation: H. Leonard et al., Metacarpophalangeal pattern profile and bone age in Rett syndrome: Furtherradiological clues to the diagnosis, AM J MED G, 83(2), 1999, pp. 88-95
Authors:
Ellaway, CJ
McQuade, LR
Christodoulou, J
Citation: Cj. Ellaway et al., Novel mitochondrial 16S rRNA polymorphism in a girl with Rett syndrome, J INH MET D, 22(8), 1999, pp. 946-A947
Authors:
Mowat, D
Kirby, DM
Kamath, KR
Kan, A
Thorburn, DR
Christodoulou, J
Citation: D. Mowat et al., Respiratory chain complex in deficiency with pruritus: A novel vitamin responsive clinical feature, J PEDIAT, 134(3), 1999, pp. 352-354
Authors:
Leonard, H
Thomson, MR
Glasson, EJ
Fyfe, S
Leonard, S
Bower, C
Christodoulou, J
Ellaway, C
Citation: H. Leonard et al., A population-based approach to the investigation of osteopenia in Rett syndrome, DEVELOP MED, 41(5), 1999, pp. 323-328
Authors:
Ellaway, CJ
Sholler, G
Leonard, H
Christodoulou, J
Citation: Cj. Ellaway et al., Prolonged QT interval in Rett syndrome, ARCH DIS CH, 80(5), 1999, pp. 470-472
Authors:
Andonopoulos, AP
Christodoulou, J
Ballas, C
Bounas, A
Alexopoulos, D
Citation: Ap. Andonopoulos et al., Autonomic cardiovascular neuropathy in Sjogren's syndrome. A controlled study, J RHEUMATOL, 25(12), 1998, pp. 2385-2388