Christodoulou J - Search Results

1

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.

Cloney T, Gallacher L, Pais LS, Tan NB, Yeung A, Stark Z, Brown NJ, McGillivray G, Delatycki MB, de Silva MG, Downie L, Stutterd CA, Elliott J, Compton AG, Lovgren A, Oertel R, Francis D, Bell KM, Sadedin S, Lim SC, Helman G, Simons C, Macarthur DG, Thorburn DR, O'Donnell-Luria AH, Christodoulou J, White SM, Tan TY. Cloney T, et al. Among authors: christodoulou j. J Med Genet. 2022 Aug;59(8):748-758. doi: 10.1136/jmedgenet-2021-107902. Epub 2021 Nov 5. J Med Genet. 2022. PMID: 34740920 Free PMC article.

2

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Rahman S, et al. Among authors: christodoulou j. Ann Neurol. 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311. Ann Neurol. 1996. PMID: 8602753

3

First prenatal diagnosis of the carnitine transporter defect.

Christodoulou J, Teo SH, Hammond J, Sim KG, Hsu BY, Stanley CA, Watson B, Lau KC, Wilcken B. Christodoulou J, et al. Am J Med Genet. 1996 Dec 2;66(1):21-4. doi: 10.1002/(SICI)1096-8628(19961202)66:1<21::AID-AJMG5>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8957505

4

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.

Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, Dahl HH, Thorburn DR. Ogle RF, et al. Among authors: christodoulou j. J Pediatr. 1997 Jan;130(1):138-45. doi: 10.1016/s0022-3476(97)70323-8. J Pediatr. 1997. PMID: 9003864

5

Mitochondrial electron transport chain defect presenting as hypoglycemia.

Freckmann ML, Thorburn DR, Kirby DM, Kamath KR, Hammond J, Dennett X, Christodoulou J. Freckmann ML, et al. Among authors: christodoulou j. J Pediatr. 1997 Mar;130(3):431-6. doi: 10.1016/s0022-3476(97)70206-3. J Pediatr. 1997. PMID: 9063420

6

Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.

Mowat D, Kirby DM, Kamath KR, Kan A, Thorburn DR, Christodoulou J. Mowat D, et al. Among authors: christodoulou j. J Pediatr. 1999 Mar;134(3):352-4. doi: 10.1016/s0022-3476(99)70463-4. J Pediatr. 1999. PMID: 10064675 Review.

7

The molecular basis of malonyl-CoA decarboxylase deficiency.

FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J. FitzPatrick DR, et al. Among authors: christodoulou j. Am J Hum Genet. 1999 Aug;65(2):318-26. doi: 10.1086/302492. Am J Hum Genet. 1999. PMID: 10417274 Free PMC article.

8

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.

Carpente KH, Wilcken B, Christodoulou J, Thorburn DR. Carpente KH, et al. Among authors: christodoulou j. J Inherit Metab Dis. 2000 Dec;23(8):845-6. doi: 10.1023/a:1026721021233. J Inherit Metab Dis. 2000. PMID: 11196112 No abstract available.

9

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. Weaving LS, et al. Among authors: christodoulou j. Am J Med Genet A. 2003 Apr 15;118A(2):103-14. doi: 10.1002/ajmg.a.10053. Am J Med Genet A. 2003. PMID: 12655490

10

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

Biggin A, Henke R, Bennetts B, Thorburn DR, Christodoulou J. Biggin A, et al. Among authors: christodoulou j. Mol Genet Metab. 2005 Jan;84(1):61-74. doi: 10.1016/j.ymgme.2004.09.011. Epub 2004 Nov 11. Mol Genet Metab. 2005. PMID: 15639196

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