Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Deepa Taranath"'
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:
Shari Javadiyan, Jamie E. Craig, Emmanuelle Souzeau, Shiwani Sharma, Karen M. Lower, David A. Mackey, Sandra E. Staffieri, James E. Elder, Deepa Taranath, Tania Straga, Joanna Black, John Pater, Theresa Casey, Alex W. Hewitt, Kathryn P. Burdon
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 7, Iss 10, Pp 3257-3268 (2017)
Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by screening known disease-associated genes using massively parallel sequencing technology. We
Externí odkaz:
https://doaj.org/article/92529b229dea43429bbab0bf9951ffe7
Publikováno v:
American Journal of Perinatology Reports, Vol 07, Iss 02, Pp e138-e143 (2017)
Abstract Proptosis in the neonatal period is relatively infrequent and has diverse underlying etiologies. One of the more common causes appears to be orbital subperiosteal hematoma. Early detection, differentiation from other causes, and regular foll
Externí odkaz:
https://doaj.org/article/ac6d70195fdc4d768f7a3ee541e4cd47
Publikováno v:
Case Reports in Ophthalmology, Vol 3, Iss 1, Pp 142-144 (2012)
Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia.
Externí odkaz:
https://doaj.org/article/896eae13bc514322b8e0b9c133e45c9e
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
Publikováno v:
Survey of Ophthalmology.
Autor:
Mallika Prem Senthil, Lachlan S. W. Knight, Deepa Taranath, David A. Mackey, Jonathan B. Ruddle, Mark Y. Chiang, Owen M. Siggs, Emmanuelle Souzeau, Jamie E. Craig
Publikováno v:
Cornea. 41:1009-1015
Axenfeld-Rieger syndrome encompasses a group of developmental disorders affecting the anterior chamber structures of the eye, with associated systemic features in some cases. This study aims to compare the difference in anterior segment phenotypes su
Autor:
Johanna L Jones, Bennet J McComish, Sandra E Staffieri, Emmanuelle Souzeau, Lisa S Kearns, James E Elder, Jac C Charlesworth, David A Mackey, Jonathan B Ruddle, Deepa Taranath, John Pater, Theresa Casey, Jamie E Craig, Kathryn P Burdon
Publikováno v:
BMJ Open Ophthalmology. 7:e001064
ObjectivePaediatric (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 variants
Publikováno v:
Sonography. 4:179-181
Publikováno v:
Molecular Vision
Purpose This report discusses a case of North Carolina macular dystrophy (NCMD) in a 7-year-old boy initially diagnosed as congenital toxoplasmosis. Genetic testing was performed on the child and his family after the suspicion of NCMD was raised by t