Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Sandra E Staffieri"'
Autor:
David A Mackey, Emmanuelle Souzeau, Jamie E Craig, Jonathan B Ruddle, Bennet J McComish, Kathryn P Burdon, Jac C Charlesworth, Sandra E Staffieri, Johanna L Jones, Lisa S Kearns, James E Elder, Deepa Taranath, John Pater, Theresa Casey
Publikováno v:
BMJ Open Ophthalmology, Vol 7, Iss 1 (2022)
Objective Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of cases in Australia. This study aimed to replicate clinical gene screening to identify variant
Externí odkaz:
https://doaj.org/article/4531117e512f447886a812c832faec19
Autor:
Emmanuelle Souzeau, Jamie E Craig, Sandra E Staffieri, Lachlan S W Knight, Bronwyn Ridge, Mallika Prem Senthil
Publikováno v:
BMJ Open, Vol 12, Iss 7 (2022)
Objective Childhood glaucoma is a chronic vision-threatening condition that may significantly impact an individual’s psychosocial well-being. There is a paucity of literature investigating the quality of life (QoL) in children with glaucoma. The ai
Externí odkaz:
https://doaj.org/article/0e907798fee34bd9974c974cd12610bf
Autor:
Stina Lou, Pernille Axel Gregersen, Mikkel Funding, Steen F Urbak, Jan Alsner, Maja H Olsen, Jens Overgaard, Sandra E Staffieri
Publikováno v:
BMJ Open Ophthalmology, Vol 6, Iss 1 (2021)
Externí odkaz:
https://doaj.org/article/f8ae4ce979a04587b9150df92024c391
Autor:
Alpana Dave, Kate Laurie, Sandra E Staffieri, Deepa Taranath, David A Mackey, Paul Mitchell, Jie Jin Wang, Jamie E Craig, Kathryn P Burdon, Shiwani Sharma
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e72518 (2013)
Congenital cataract is the most common cause of treatable visual impairment in children worldwide. Mutations in many different genes lead to congenital cataract. Recently, mutations in the receptor tyrosine kinase gene, EPHA2, have been found to caus
Externí odkaz:
https://doaj.org/article/909f672fe1d842d7b2756194fa3d4f28
Autor:
Nicole J Van Bergen, Jonathan G Crowston, Lisa S Kearns, Sandra E Staffieri, Alex W Hewitt, Amy C Cohn, David A Mackey, Ian A Trounce
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e21347 (2011)
Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells of the optic nerve. Around 60% of ADOA cases are linked to mutations in the OPA1 gene. OPA
Externí odkaz:
https://doaj.org/article/efcba7d1e9c842758625e6c42ef11b61
Autor:
David A. Mackey, Jue-Sheng Ong, Stuart MacGregor, David C. Whiteman, Jamie E. Craig, M. Isabel G. Lopez Sanchez, Lisa S. Kearns, Sandra E. Staffieri, Linda Clarke, Myra B. McGuinness, Wafaa Meteoukki, Sona Samuel, Jonathan B. Ruddle, Celia Chen, Clare L. Fraser, John Harrison, Neil Howell, Alex W. Hewitt
Publikováno v:
The American Journal of Human Genetics. 110:170-176
Pedigree analysis showed that a large proportion of Leber hereditary optic neuropathy (LHON) family members who carry a mitochondrial risk variant never lose vision. Mitochondrial haplotype appears to be a major factor influencing the risk of vision
Autor:
Lachlan S.W. Knight, Bronwyn Ridge, Sandra E. Staffieri, Jamie E. Craig, Mallika Prem Senthil, Emmanuelle Souzeau
Publikováno v:
Ophthalmology Glaucoma. 5:531-543
Autor:
Bronwyn Ridge, Lachlan S.W. Knight, Sandra E Staffieri, Emmanuelle Souzeau, Mallika Prem Senthil, Jamie E Craig
Publikováno v:
Ophthalmology Glaucoma. 5:325-336
PURPOSE To explore and report on the quality-of-life (QoL) issues encountered by adults with childhood glaucoma. DESIGN Exploratory qualitative study. PARTICIPANTS Forty-seven participants with childhood glaucoma (defined as disease onset
Autor:
Haojie Fu, Owen M. Siggs, Lachlan S.W. Knight, Sandra E. Staffieri, Jonathan B. Ruddle, Amy E. Birsner, Edward Ryan Collantes, Jamie E. Craig, Janey L. Wiggs, Robert J. D’Amato
Publikováno v:
Journal of Clinical Investigation. 132
Glaucoma is a highly heritable disease that is a leading cause of blindness worldwide. Here, we identified heterozygous thrombospondin 1 (THBS1) missense alleles altering p.Arg1034, a highly evolutionarily conserved amino acid, in 3 unrelated and eth
Autor:
Clare L. Fraser, Sona Samuel, Sandra E Staffieri, M Isabel G Lopez Sanchez, Alex W. Hewitt, Celia S. Chen, Neil Howell, David A. Mackey, Lisa S. Kearns, Myra B McGuinness, Wafaa Meteoukki, Linda Clarke, John D Harrison, Jonathan B Ruddle
Publikováno v:
American Journal of Human Genetics
Summary We conducted an updated epidemiological study of Leber hereditary optic neuropathy (LHON) in Australia by using registry data to establish the risk of vision loss among different LHON mutations, sex, age at onset, and mitochondrial haplogroup