Burdon, Kathryn P.: search on Z-Library

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1

Genetic and Environmental Risk Factors for Keratoconus

Lucas, Sionne E.M., Burdon, Kathryn P.

Journal:

Annual Review of Vision Science

Year:

2020

File:

PDF, 302 KB

2020

2

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, Lars G, Igl, Wilmar, Bailey, Jessica N Cooke, Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L, Burdon, Kathryn P, Hebbring, Scott J, Wen, Cindy, Gorski, Mathias, Kim, Ivana K,

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.40 MB

english, 2015

3

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

Ng, Soo Khai, Burdon, Kathryn P., Fitzgerald, Jude T., Zhou, Tiger, Fogarty, Rhys, Souzeau, Emmanuelle, Landers, John, Mills, Richard A., Casson, Robert J., Ridge, Bronwyn, Graham, Stuart L., Hewitt,

Journal:

Investigative Opthalmology & Visual Science

Year:

2016

Language:

english

File:

PDF, 291 KB

english, 2016

4

Ethnic and Mouse Strain Differences in Central Corneal Thickness and Association with Pigmentation Phenotype

Dimasi, David P., Hewitt, Alex W., Kagame, Kenneth, Ruvama, Sam, Tindyebwa, Ludovica, Llamas, Bastien, Kirk, Kirsty A., Mitchell, Paul, Burdon, Kathryn P., Craig, Jamie E., Chakravarti, Shukti

Journal:

Year:

2011

Language:

english

File:

PDF, 629 KB

english, 2011

5

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

Tianxiao Zhang, Rui Hua, Wei Xiao, Kathryn P. Burdon, Shomi S. Bhattacharya, Jamie E. Craig, Dandan Shang, Xiuli Zhao, David A. Mackey, Anthony T. Moore, Yang Luo, Jinsong Zhang, Xue Zhang

Journal:

Year:

2009

Language:

english

File:

PDF, 520 KB

english, 2009

6

Genetic study of diabetic retinopathy: recruitment methodology and analysis of baseline characteristics

Kaidonis, Georgia, Abhary, Sotoodeh, Daniell, Mark, Gillies, Mark, Fogarty, Rhys, Petrovsky, Nikolai, Jenkins, Alicia, Essex, Rohan, Chang, John H, Pal, Bishwanath, Hewitt, Alex W, Burdon, Kathryn P,

Journal:

Clinical & Experimental Ophthalmology

Year:

2014

Language:

english

File:

PDF, 221 KB

english, 2014

7

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

Bailey, Jessica N Cooke, Loomis, Stephanie J, Kang, Jae H, Allingham, R Rand, Gharahkhani, Puya, Khor, Chiea Chuen, Burdon, Kathryn P, Aschard, Hugues, Chasman, Daniel I, Igo, Robert P, Hysi, Pirro G,

Journal:

Nature Genetics

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

8

Heritability and Expression of C-Reactive Protein in Type 2 Diabetes in the Diabetes Heart Study

Leslie A. Lange, Kathryn Burdon, Carl D. Langefeld, Yongmei Liu, Stephanie R. Beck, Stephen S. Rich, Barry I. Freedman, K. Bridget Brosnihan, David M. Herrington, Lynne E. Wagenknecht, Donald W. Bowde

Journal:

Annals of Human Genetics

Year:

2006

Language:

english

File:

PDF, 198 KB

english, 2006

9

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

Burdon, Kathryn P, Macgregor, Stuart, Hewitt, Alex W, Sharma, Shiwani, Chidlow, Glyn, Mills, Richard A, Danoy, Patrick, Casson, Robert, Viswanathan, Ananth C, Liu, Jimmy Z

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 771 KB

english, 2011

10

Common Sequence Variation in the VEGFC Gene Is Associated with Diabetic Retinopathy and Diabetic Macular Edema

Kaidonis, Georgia, Burdon, Kathryn P., Gillies, Mark C., Abhary, Sotoodeh, Essex, Rohan W., Chang, John H., Pal, Bishwanath, Pefkianaki, Maria, Daniell, Mark, Lake, Stewart, Petrovsky, Nikolai, Hewitt

Journal:

Year:

2015

Language:

english

File:

PDF, 478 KB

english, 2015

11

Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Aung, Tin, Ozaki, Mineo, Mizoguchi, Takanori, Allingham, R Rand, Li, Zheng, Haripriya, Aravind, Nakano, Satoko, Uebe, Steffen, Harder, Jeffrey M, Chan, Anita S Y, Lee, Mei Chin, Burdon, Kathryn P, Ast

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 117 KB

english, 2015

12

Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene

Landers, John, Hewitt, Alex W, Straga, Tania, Burdon, Kathryn P, Craig, Jamie E

Journal:

Clinical & Experimental Ophthalmology

Year:

2015

Language:

english

File:

PDF, 169 KB

english, 2015

13

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract

Javadiyan, Shari, Craig, Jamie E., Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M., Pater, John, Casey, Theresa, Hodson, Trevor, Burdon, Kathryn P.

Journal:

BMC Research Notes

Year:

2016

Language:

english

File:

PDF, 1.18 MB

english, 2016

14

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

Han, Xikun, Souzeau, Emmanuelle, Ong, Jue-Sheng, An, Jiyuan, Siggs, Owen M., Burdon, Kathryn P., Best, Stephen, Goldberg, Ivan, Healey, Paul R., Graham, Stuart L., Ruddle, Jonathan B., Mills, Richard

Journal:

JAMA Ophthalmology

Year:

2018

Language:

english

File:

PDF, 306 KB

english, 2018

15

Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

Kamron Khan, Adam Rudkin, David A. Parry, Kathryn P. Burdon, Martin McKibbin, Clare V. Logan, Zakia I.A. Abdelhamed, James S. Muecke, Narcis Fernandez-Fuentes, Kate J. Laurie, Mike Shires, Rhys Fogart

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.18 MB

english, 2011

16

Genetic Investigation into the Endophenotypic Status of Central Corneal Thickness and Optic Disc Parameters in Relation to Open-Angle Glaucoma

David P. Dimasi, Kathryn P. Burdon, Alex W. Hewitt, Jude Fitzgerald, Jie Jin Wang, Paul R. Healey, Paul Mitchell, David A. Mackey, Jamie E. Craig

Journal:

American Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 1021 KB

english, 2012

17

Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process

Kuot, Abraham, Hewitt, Alex W, Griggs, Kim, Klebe, Sonja, Mills, Richard, Jhanji, Vishal, Craig, Jamie E, Sharma, Shiwani, Burdon, Kathryn P

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 381 KB

english, 2012

18

Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome

Sharma, Shiwani, Martin, Sarah, Sykes, Matthew J., Dave, Alpana, Hewitt, Alex W., Burdon, Kathryn P., Ronci, Maurizio, Voelcker, Nicolas H., Craig, Jamie E.

Journal:

Experimental Eye Research

Year:

2016

Language:

english

File:

PDF, 3.34 MB

english, 2016

19

Progress and challenges in genome-wide studies to understand the genetics of diabetic retinopathy

Burdon, Kathryn P., McComish, Bennet J., Charlesworth, Jac C.

Journal:

Annals of Eye Science

Year:

2018

File:

PDF, 290 KB

2018

20

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

Kathryn P. Burdon, Douglas J. Coster, Jac C. Charlesworth, Richard A. Mills, Kate J. Laurie, Cecilia Giunta, Alex W. Hewitt, Paul Latimer, Jamie E. Craig

Journal:

Year:

2008

Language:

english

File:

PDF, 469 KB

english, 2008

21

Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS)

Kathryn P. Burdon, Carl D. Langefeld, Stephanie R. Beck, Lynne E. Wagenknecht, J. Jeffrey Carr, Stephen S. Rich, Barry I. Freedman, David Herrington, Donald W. Bowden

Journal:

American Heart Journal

Year:

2006

Language:

english

File:

PDF, 116 KB

english, 2006

22

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Lu, Yi, Vitart, Veronique, Burdon, Kathryn P, Khor, Chiea Chuen, Bykhovskaya, Yelena, Mirshahi, Alireza, Hewitt, Alex W, Koehn, Demelza, Hysi, Pirro G, Ramdas, Wishal D, Zeller, Tanja, Vithana, Eranga

Journal:

Nature Genetics

Year:

2013

Language:

english

File:

PDF, 655 KB

english, 2013

23

Role of direct-to-consumer genetic testing for complex disease in diagnostics and research

Burdon, Kathryn P.

Journal:

Clinical & Experimental Ophthalmology

Year:

2015

Language:

english

File:

PDF, 162 KB

english, 2015

24

Differential Gene Expression Profiling of Orbital Adipose Tissue in Thyroid Orbitopathy

Khong, Jwu Jin, Wang, Lynn Yuning, Smyth, Gordon K., McNab, Alan A., Hardy, Thomas G., Selva, Dinesh, Llamas, Bastien, Jung, Chol-Hee, Sharma, Shiwani, Burdon, Kathryn P., Ebeling, Peter R., Craig, Ja

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 397 KB

english, 2015

25

Glaucoma Risk Alleles at CDKN2B-AS1 Are Associated with Lower Intraocular Pressure, Normal-Tension Glaucoma, and Advanced Glaucoma

Kathryn P. Burdon, April Crawford, Robert J. Casson, Alex W. Hewitt, John Landers, Patrick Danoy, David A. Mackey, Paul Mitchell, Paul R. Healey, Jamie E. Craig

Journal:

Year:

2012

Language:

english

File:

PDF, 493 KB

english, 2012

26

Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma

Crawford, April, Souzeau, Emmanuelle, Agar, Ashish, Ridge, Bronwyn, Dubowsky, Andrew, Burdon, Kathryn P., Craig, Jamie E.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.09 MB

english, 2014

27

Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome

Yazar, Seyhan, Franchina, Maria, Craig, Jamie E., Burdon, Kathryn P., Mackey, David A.

Journal:

Ophthalmic Genetics

Year:

2016

Language:

english

File:

PDF, 679 KB

english, 2016

28

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma

Burdon, Kathryn P., Awadalla, Mona S., Mitchell, Paul, Wang, Jie Jin, White, Andrew, Keane, Miriam C., Souzeau, Emmanuelle, Graham, Stuart L., Goldberg, Ivan, Healey, Paul R., Landers, John, Mills, Ri

Journal:

Ophthalmic Genetics

Year:

2017

Language:

english

File:

PDF, 1.01 MB

english, 2017

29

Association of Polymorphisms in the Hepatocyte Growth Factor Gene Promoter with Keratoconus

Burdon, Kathryn P., Macgregor, Stuart, Bykhovskaya, Yelena, Javadiyan, Sharhbanou, Li, Xiaohui, Laurie, Kate J., Muszynska, Dorota, Lindsay, Richard, Lechner, Judith, Haritunians, Talin, Henders, Anja

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 93 KB

english, 2011

30

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

Souzeau, Emmanuelle, Burdon, Kathryn P., Mackey, David A., Hewitt, Alex W., Savarirayan, Ravi, Otlowski, Margaret, Craig, Jamie E.

Journal:

Translational Vision Science & Technology

Year:

2016

Language:

english

File:

PDF, 444 KB

english, 2016

31

A Turkish family with Nance-Horan syndrome due to a novel mutation

Tug, Esra, Dilek, Nihal F., Javadiyan, Shahrbanou, Burdon, Kathryn P., Percin, Ferda E.

Journal:

Year:

2013

Language:

english

File:

PDF, 500 KB

english, 2013

32

Human Lipoxygenase Pathway Gene Variation and Association with Markers of Subclinical Atherosclerosis in the Diabetes Heart Study

Burdon, Kathryn P., Rudock, Megan E., Lehtinen, Allison B., Langefeld, Carl D., Bowden, Donald W., Register, Thomas C., Liu, Yongmei, Freedman, Barry I., Carr, J. Jeffrey, Hedrick, Catherine C., Rich,

Journal:

Mediators of Inflammation

Year:

2010

Language:

english

File:

PDF, 186 KB

english, 2010

33

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

Kathryn P. Burdon, Shiwani Sharma, Celia S. Chen, David P. Dimasi, David A. Mackey, Jamie E. Craig

Journal:

Year:

2007

Language:

english

File:

PDF, 469 KB

english, 2007

34

Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Kathryn P. Burdon, James D. McKay, Michèle M. Sale, Isabelle M. Russell-Eggitt, David A. Mackey, M. Gabriela Wirth, James E. Elder, Alan Nicoll, Michael P. Clarke, Liesel M. FitzGerald, James M. Stank

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 719 KB

english, 2003

35

Insights into keratoconus from a genetic perspective

Burdon, Kathryn P, Vincent, Andrea L

Journal:

Clinical and Experimental Optometry

Year:

2013

Language:

english

File:

PDF, 243 KB

english, 2013

36

Mutation in TMEM98 in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12

Awadalla, Mona S., Burdon, Kathryn P., Souzeau, Emmanuelle, Landers, John, Hewitt, Alex W., Sharma, Shiwani, Craig, Jamie E.

Journal:

JAMA Ophthalmology

Year:

2014

Language:

english

File:

PDF, 445 KB

english, 2014

37

Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation

D. Wynne Jones, Geoffrey Russell, Sarah L. Allford, Kathryn Burdon, Gregory A. Hawkins, Donald W. Bowden, Sophie Minaee, Andrew D. Mumford

Journal:

British Journal of Haematology

Year:

2004

Language:

english

File:

PDF, 86 KB

english, 2004

38

Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: a review

Kathryn P Burdon

Journal:

Clinical & Experimental Ophthalmology

Year:

2012

Language:

english

File:

PDF, 103 KB

english, 2012

39

Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study

Burdon, Kathryn P, Lehtinen, Allison B, Langefeld, Carl D, Carr, J Jeffrey, Rich, Stephen S, Freedman, Barry I, Herrington, David, Bowden, Donald W

Journal:

Diabetes and Vascular Disease Research

Year:

2008

Language:

english

File:

PDF, 174 KB

english, 2008

40

Association of α2-Heremans-Schmid Glycoprotein Polymorphisms with Subclinical Atherosclerosis

Lehtinen, Allison B., Burdon, Kathryn P., Lewis, Joshua P., Langefeld, Carl D., Ziegler, Julie T., Rich, Stephen S., Register, Thomas C., Carr, J. Jeffrey, Freedman, Barry I., Bowden, Donald W.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 210 KB

english, 2007

41

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma

Souzeau, Emmanuelle, Burdon, Kathryn P., Ridge, Bronwyn, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.

Journal:

BMC Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.07 MB

english, 2016

42

Association of Genetic Variants in the TMCO1 Gene with Clinical Parameters Related to Glaucoma and Characterization of the Protein in the Eye

Sharma, Shiwani, Burdon, Kathryn P., Chidlow, Glyn, Klebe, Sonja, Crawford, April, Dimasi, David P., Dave, Alpana, Martin, Sarah, Javadiyan, Shahrbanou, Wood, John P. M., Casson, Robert, Danoy, Patric

Journal:

Investigative Ophthalmology & Visual Science

Year:

2012

Language:

english

File:

PDF, 433 KB

english, 2012

43

Progress and challenges in genome-wide studies to understand the genetics of diabetic retinopathy

Burdon, Kathryn P., McComish, Bennet J., Charlesworth, Jac C.

Journal:

Annals of Eye Science

Year:

2018

Language:

english

File:

PDF, 290 KB

english, 2018

44

Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry

Souzeau, Emmanuelle, Burdon, Kathryn P., Dubowsky, Andrew, Grist, Scott, Usher, Bronwyn, Fitzgerald, Jude T., Crawford, April, Hewitt, Alex W., Goldberg, Ivan, Mills, Richard A., Ruddle, Jonathan B.,

Journal:

Year:

2013

Language:

english

File:

PDF, 462 KB

english, 2013

45

Screening of the COL8A2 gene in an Australian family with early-onset Fuchs’ endothelial corneal dystrophy

Kuot, Abraham, Mills, Richard, Craig, Jamie E, Sharma, Shiwani, Burdon, Kathryn P

Journal:

Clinical & Experimental Ophthalmology

Year:

2014

Language:

english

File:

PDF, 445 KB

english, 2014

46

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Aung, Tin, Ozaki, Mineo, Mizoguchi, Takanori, Allingham, R Rand, Li, Zheng, Haripriya, Aravind, Nakano, Satoko, Uebe, Steffen, Harder, Jeffrey M, Chan, Anita S Y, Lee, Mei Chin, Burdon, Kathryn P, Ast

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 2.16 MB

english, 2015

47

Elevation of Serum Asymmetrical and Symmetrical Dimethylarginine in Patients with Advanced Glaucoma

Javadiyan, Shahrbanou, Burdon, Kathryn P., Whiting, Malcolm J., Abhary, Sotoodeh, Straga, Tania, Hewitt, Alex W., Mills, Richard A., Craig, Jamie E.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2012

Language:

english

File:

PDF, 278 KB

english, 2012

48

Functional and Structural Implications of the Complement Factor H Y402H Polymorphism Associated with Age-Related Macular Degeneration

Ormsby, Rebecca J., Ranganathan, Shoba, Tong, Joo Chuan, Griggs, Kim M., Dimasi, David P., Hewitt, Alex W., Burdon, Kathryn P., Craig, Jamie E., Hoh, Josephine, Gordon, David L.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2008

Language:

english

File:

PDF, 593 KB

english, 2008

49

Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry

Shiwani Sharma, Tim Chataway, Kathryn P. Burdon, Lisa Jonavicius, Sonja Klebe, Alex W. Hewitt, Richard A. Mills, Jamie E. Craig

Journal:

Experimental Eye Research

Year:

2009

Language:

english

File:

PDF, 294 KB

english, 2009

50

Common Sequence Variation in the VEGFA Gene Predicts Risk of Diabetic Retinopathy

Abhary, Sotoodeh, Burdon, Kathryn P., Gupta, Aanchal, Lake, Stewart, Selva, Dinesh, Petrovsky, Nikolai, Craig, Jamie E.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 513 KB

english, 2009

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