Burdon KP - Search Results

1

A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes.

Meng W, Shah KP, Pollack S, Toppila I, Hebert HL, McCarthy MI, Groop L, Ahlqvist E, Lyssenko V, Agardh E, Daniell M, Kaidonis G, Craig JE, Mitchell P, Liew G, Kifley A, Wang JJ, Christiansen MW, Jensen RA, Penman A, Hancock HA, Chen CJ, Correa A, Kuo JZ, Li X, Chen YI, Rotter JI, Klein R, Klein B, Wong TY, Morris AD, Doney ASF, Colhoun HM, Price AL, Burdon KP, Groop PH, Sandholm N, Grassi MA, Sobrin L, Palmer CNA; Wellcome Trust Case Control Consortium 2 (WTCCC2), Surrogate markers for Micro- and Macro-vascular hard endpoints for Innovative diabetes Tools (SUMMIT) study group. Meng W, et al. Among authors: burdon kp. Acta Ophthalmol. 2018 Nov;96(7):e811-e819. doi: 10.1111/aos.13769. Epub 2018 Sep 4. Acta Ophthalmol. 2018. PMID: 30178632 Free PMC article.

2

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.

3

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

4

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

5

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

6

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.

7

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

8

Genetic analysis of the clusterin gene in pseudoexfoliation syndrome.

Burdon KP, Sharma S, Hewitt AW, McMellon AE, Wang JJ, Mackey DA, Mitchell P, Craig JE. Burdon KP, et al. Mol Vis. 2008 Sep 22;14:1727-36. Mol Vis. 2008. PMID: 18806885 Free PMC article.

9

Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.

Burdon KP, Hattersley K, Lachke SA, Laurie KJ, Maas RL, Mackey DA, Craig JE. Burdon KP, et al. Mol Vis. 2008;14:1799-804. Epub 2008 Sep 30. Mol Vis. 2008. PMID: 18843385 Free PMC article.

10

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family.

Burdon KP, Durkin SR, Burke M, Edwards M, Pater J, Straga T, Gecz J, Liebelt JE, Craig JE. Burdon KP, et al. Am J Med Genet A. 2009 Feb 15;149A(4):633-9. doi: 10.1002/ajmg.a.32726. Am J Med Genet A. 2009. PMID: 19291767

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