Now showing items 1-5 of 5

    • CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma 

      Souzeau, Emmanuelle; Hayes, Melanie; Ruddle, Jonathan B; Elder, James E; Staffieri, Sandra E; Kearns, Lisa S; Mackey, David A; Zhou, Tiger; Ridge, Bronwyn; Burdon, Kathryn Penelope; Dubowsky, Andrew; Craig, Jamie E (Molecular Vision, 2015-02-11)
      Purpose: To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New ...
    • Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants 

      Souzeau, Emmanuelle; Siggs, Owen M; Zhou, Tiger; Galanopoulos, Anna; Hodson, Trevor; Taranath, Deepa A; Mills, Richard Arthur; Landers, John; Pater, John Brian; Smith, James E; Elder, James E; Rait, Julian L; Giles, Paul; Phakey, Vivek; Staffieri, Sandra E; Kearns, Lisa S; Dubowsky, Andrew; Mackey, David A; Hewitt, Alex W; Ruddle, Jonathan B; Burdon, Kathryn Penelope; Craig, Jamie E (Nature Publishing Group, 2017-05-17)
      Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals ...
    • High throughput genetic screening of 51 paediatric cataract genes identifies causative mutations in inherited paediatric cataract in South Eastern Australia 

      Javadiyan, Shahrbanou; Craig, Jamie E; Souzeau, Emmanuelle; Sharma, Shiwani; Lower, Karen Marie; Mackey, David A; Staffieri, Sandra E; Elder, James E; Taranath, Deepa A; Straga, Tania; Black, Joanna; Pater, John Brian; Casey, Theresa; Hewitt, Alex W; Burdon, Kathryn Penelope (Genetics Society of America., 2017-08-24)
      Paediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of paediatric cataract in Australian families by screening known disease associated genes using massively ...
    • Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. 

      Burdon, Kathryn Penelope; Wirth, M Gabriela; Mackey, David A; Russell-Eggit, Isabelle M; Craig, Jamie E; Elder, James E; Dickinson, Joanne L; Sale, Michele M (BMJ Publishing Group - http://bjo.bmjjournals.com/, 2004-01)
      AIMS: Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia. METHODS: ...
    • Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma 

      Siggs, Owen M; Souzeau, Emmanuelle; Pasutto, Francesca; Dubowsky, Andrew; Smith, James E H; Taranath, Deepa A; Pater, John Brian; Rait, Julian L; Narita, Andrew; Mauri, Lucia; Del Longo, Alessandra; Reis, Andre; Chappell, Angela J; Kearns, Lisa A; Staffieri, Sandra E; Elder, James E; Ruddle, Jonathan B; Hewitt, Alex W; Burdon, Kathryn Penelope; Mackey, David A; Craig, Jamie E (American Medical Association, 2019-01-17)
      Importance Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly ...