Burdon KP - Search Results

1

Pathogenic genetic variants identified in Australian families with paediatric cataract.

Jones JL, McComish BJ, Staffieri SE, Souzeau E, Kearns LS, Elder JE, Charlesworth JC, Mackey DA, Ruddle JB, Taranath D, Pater J, Casey T, Craig JE, Burdon KP. Jones JL, et al. Among authors: burdon kp. BMJ Open Ophthalmol. 2022 Aug;7(1):e001064. doi: 10.1136/bmjophth-2022-001064. BMJ Open Ophthalmol. 2022. PMID: 36161833 Free PMC article.

2

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.

3

Investigation of albinism genes in congenital esotropia.

Burdon KP, Wilkinson RM, Barbour JM, Dickinson JL, Stankovich JM, Mackey DA, Sale MM. Burdon KP, et al. Mol Vis. 2003 Dec 16;9:710-4. Mol Vis. 2003. PMID: 14685142 Free article.

4

The PITX3 gene in posterior polar congenital cataract in Australia.

Burdon KP, McKay JD, Wirth MG, Russell-Eggit IM, Bhatti S, Ruddle JB, Dimasi D, Mackey DA, Craig JE. Burdon KP, et al. Mol Vis. 2006 Apr 18;12:367-71. Mol Vis. 2006. PMID: 16636655 Free article.

5

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.

Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, Craig JE, Tengtrisorn S, Carden SM, Maclean H, Mackey DA. Dickinson JL, et al. Among authors: burdon kp. Clin Exp Ophthalmol. 2006 Sep-Oct;34(7):682-8. doi: 10.1111/j.1442-9071.2006.01314.x. Clin Exp Ophthalmol. 2006. PMID: 16970763

6

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

Burdon KP, Sharma S, Chen CS, Dimasi DP, Mackey DA, Craig JE. Burdon KP, et al. Hum Mutat. 2007 Jul;28(7):742. doi: 10.1002/humu.9501. Hum Mutat. 2007. PMID: 17579362

7

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.

Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, Dimasi DP, Mackey DA, Mitchell P, Craig JE. Hewitt AW, et al. Among authors: burdon kp. Hum Mol Genet. 2008 Mar 1;17(5):710-6. doi: 10.1093/hmg/ddm342. Epub 2007 Nov 23. Hum Mol Genet. 2008. PMID: 18037624

8

Functional and structural implications of the complement factor H Y402H polymorphism associated with age-related macular degeneration.

Ormsby RJ, Ranganathan S, Tong JC, Griggs KM, Dimasi DP, Hewitt AW, Burdon KP, Craig JE, Hoh J, Gordon DL. Ormsby RJ, et al. Among authors: burdon kp. Invest Ophthalmol Vis Sci. 2008 May;49(5):1763-70. doi: 10.1167/iovs.07-1297. Epub 2008 Feb 8. Invest Ophthalmol Vis Sci. 2008. PMID: 18263814

9

A novel locus for X-linked congenital cataract on Xq24.

Craig JE, Friend KL, Gecz J, Rattray KM, Troski M, Mackey DA, Burdon KP. Craig JE, et al. Among authors: burdon kp. Mol Vis. 2008 Apr 18;14:721-6. Mol Vis. 2008. PMID: 18431456 Free PMC article.

10

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, Giunta C, Hewitt AW, Latimer P, Craig JE. Burdon KP, et al. Hum Genet. 2008 Nov;124(4):379-86. doi: 10.1007/s00439-008-0555-z. Epub 2008 Sep 5. Hum Genet. 2008. PMID: 18795334

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