Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma
Khan, Kamron, Rudkin, Adam, Parry, David A., Burdon, Kathryn P., McKibbin, Martin, Logan, Clare V., Abdelhamed, Zakia I.A., Muecke, James S., Fernandez-Fuentes, Narcis, Laurie, Kate J., Shires, Mike, Fogarty, Rhys, Carr, Ian M., Poulter, James A., Morgan, Joanne E., Mohamed, Moin D., Jafri, Hussain, Raashid, Yasmin, Meng, Ngy, Piseth, Horm, Toomes, Carmel, Casson, Robert J., Taylor, Graham R., Hammerton, Michael, Sheridan, Eamonn, Johnson, Colin A., Inglehearn, Chris F., Craig, Jamie E., Ali, Manir
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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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, Anjali K, Dash, Durga, Siscovick, David, Anand, Seema, Aldave, Anthony, Coster, Douglas J, Szczotka-Flynn, Loretta, Mills, Richard A, Iyengar, Sudha K, Taylor, Kent D, Phillips, Tony, Montgomery, Grant W, Rotter, Jerome I, Hewitt, Alex W, Sharma, Shiwani, Rabinowitz, Yaron S, Willoughby, Colin, Craig, Jamie E
Published in Investigative ophthalmology & visual science (31.10.2011)
Published in Investigative ophthalmology & visual science (31.10.2011)
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A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
Hattersley, Kathryn, Laurie, Kate J, Liebelt, Jan E, Gecz, Jozef, Durkin, Shane R, Craig, Jamie E, Burdon, Kathryn P
Published in BMC genetics (19.11.2010)
Published in BMC genetics (19.11.2010)
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Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family
Laurie, Kate J., Dave, Alpana, Straga, Tania, Souzeau, Emmanuelle, Chataway, Timothy, Sykes, Matthew J., Casey, Theresa, Teo, Theodosia, Pater, John, Craig, Jamie E., Sharma, Shiwani, Burdon, Kathryn P.
Published in Human mutation (01.03.2013)
Published in Human mutation (01.03.2013)
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Aldose Reductase Gene Polymorphisms and Diabetic Retinopathy Susceptibility
Abhary, Sotoodeh, Burdon, Kathryn P, Laurie, Kate J, Thorpe, Stacey, Landers, John, Goold, Lucy, Lake, Stewart, Petrovsky, Nikolai, Craig, Jamie E
Published in Diabetes care (01.08.2010)
Published in Diabetes care (01.08.2010)
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Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy
Khong, Jwu Jin, Burdon, Kathryn P, Lu, Yi, Leonardos, Lefta, Laurie, Kate J, Walsh, John P, Gajdatsy, Adam D, Ebeling, Peter R, McNab, Alan A, Hardy, Thomas G, Stawell, Richard J, Davis, Garry J, Selva, Dinesh, Tsirbas, Angelo, Montgomery, Grant W, Macgregor, Stuart, Craig, Jamie E
Published in Investigative ophthalmology & visual science (01.06.2016)
Published in Investigative ophthalmology & visual science (01.06.2016)
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Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci
Burdon, Kathryn P., Coster, Douglas J., Charlesworth, Jac C., Mills, Richard A., Laurie, Kate J., Giunta, Cecilia, Hewitt, Alex W., Latimer, Paul, Craig, Jamie E.
Published in Human genetics (01.11.2008)
Published in Human genetics (01.11.2008)
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Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract
Burdon, Kathryn P, Hattersley, Kathryn, Lachke, Salil A, Laurie, Kate J, Maas, Richard L, Mackey, David A, Craig, Jamie E
Published in Molecular vision (30.09.2008)
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Published in Molecular vision (30.09.2008)
Journal Article
Identification of a Novel Oligomerization Disrupting Mutation in CRY[Alpha]A Associated with Congenital Cataract in a South Australian Family
Laurie, Kate J, Dave, Alpana, Straga, Tania, Souzeau, Emmanuelle, Chataway, Timothy, Sykes, Matthew J, Casey, Theresa, Teo, Theodosia, Pater, John, Craig, Jamie E, Sharma, Shiwani, Burdon, Kathryn P
Published in Human mutation (01.03.2013)
Published in Human mutation (01.03.2013)
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