Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Julian L Rait"'
Autor:
Paul Giles, Emmanuelle Souzeau, Andrew Dubowsky, Lisa S. Kearns, Richard A. Mills, Jamie E Craig, Alex W. Hewitt, Trevor Hodson, Sandra E Staffieri, James E. H. Smith, Vivek Phakey, John Landers, James E. Elder, Owen M. Siggs, Tiger Zhou, Deepa A Taranath, Anna Galanopoulos, Jonathan B Ruddle, Kathryn P. Burdon, Julian L Rait, David A. Mackey, John Pater
Publikováno v:
European Journal of Human Genetics
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 will develop glaucoma, b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301542206ed9e5e37dd8a06e9276aa86
https://doi.org/10.1038/ejhg.2017.59
https://doi.org/10.1038/ejhg.2017.59
Autor:
Kathryn P. Burdon, Sandra E Staffieri, David A. Mackey, John Pater, Lisa A Kearns, Jonathan B Ruddle, Alessandra Del Longo, Andrew Narita, Alex W. Hewitt, Deepa A Taranath, Angela J Chappell, Lucia Mauri, Owen M. Siggs, James E. Elder, Julian L Rait, Andrew Dubowsky, Francesca Pasutto, James E. H. Smith, Jamie E Craig, André Reis, Emmanuelle Souzeau
Publikováno v:
JAMA Ophthalmology. 137:348
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 in individuals with vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50c8d41ee991e28dc1a444908298885
https://doi.org/10.1001/jamaophthalmol.2018.5646
https://doi.org/10.1001/jamaophthalmol.2018.5646
Autor:
Jan Liebelt, David A. Mackey, Z. Mimiwati, Jane R MacKinnon, Ayala-Lugo Rm, Douglas Vollrath, Julia E. Richards, Jamie E Craig, Julian L Rait
Publikováno v:
Flinders University PURE
Background: Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, patellae, elbows and iliac horns. Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegreg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c55a4c1c460e45b17fb71cc7b42ed27b
https://doi.org/10.1136/bjo.2006.092619
https://doi.org/10.1136/bjo.2006.092619
Autor:
Bickol N. Mukesh, Todd A. Robin, Jill E Keeffe, Andreas Müller, Hugh R. Taylor, Julian L Rait
Publikováno v:
Ophthalmic Epidemiology. 12:167-178
To assess the performance of a community-based glaucoma screening algorithm in the general population.A total of 659 individuals aged 50-90 years were screened for glaucoma. Presenting visual acuity, family history of glaucoma, FDT perimetry, and HRT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e285099eb46efdd3e907b7a97f01338
https://doi.org/10.1080/09286580590969716
https://doi.org/10.1080/09286580590969716
Autor:
Julian L Rait
Publikováno v:
Clinical & Experimental Ophthalmology. 40:835-837
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::480a49cf278c911451916d378cbd96bd
https://doi.org/10.1111/ceo.12012
https://doi.org/10.1111/ceo.12012
Publikováno v:
Clinical and Experimental Ophthalmology. 31:482-486
PURPOSE: This study investigated the association between visual field loss and participation in daily activities in individuals with glaucoma. METHODS: Seventy-nine patients were recruited from the Royal Victorian Eye and Ear Hospital. Visual fields
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9535f41e22cc0edad145ee6250a7c969
https://doi.org/10.1046/j.1442-9071.2003.00712.x
https://doi.org/10.1046/j.1442-9071.2003.00712.x
Publikováno v:
The Journal of Comparative Neurology. 465:38-56
The N-methyl-D-aspartate (NMDA) responses of neurons from within the inner rabbit retina were mapped using a channel permeable cation, 1-amino-4-guanidobutane (agmatine, AGB). Serial sections were subsequently probed with immunoglobulins targeting AG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e205ec3aadab512771487b5d68a7b875
https://doi.org/10.1002/cne.10830
https://doi.org/10.1002/cne.10830
Publikováno v:
Ophthalmology. 109:1047-1051
Publisher version is restricted access in accordance with the publisher's policy. The original publication is available at http://www.ncbi.nlm.nih.gov/pubmed/12045042
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d22c8f282e88b94843c051192cf65018
https://doi.org/10.1016/s0161-6420(02)01040-0
https://doi.org/10.1016/s0161-6420(02)01040-0
Autor:
Lisa S. Kearns, Deepa A Taranath, Anna Galanopoulos, Andrew Dubowsky, John Landers, Trevor Hodson, Vivek Phakey, John Pater, James E. H. Smith, Jonathan B Ruddle, Sandra E Staffieri, James E. Elder, Jamie E Craig, Kathryn P. Burdon, Tiger Zhou, Emmanuelle Souzeau, David A. Mackey, Julian L Rait, Richard A. Mills, Owen M. Siggs, Paul Giles, Alex W. Hewitt
Publikováno v:
European Journal of Human Genetics. 25:1290-1290
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e16f15c746173f3aeda41a3b7542d642
https://doi.org/10.1038/ejhg.2017.147
https://doi.org/10.1038/ejhg.2017.147
Autor:
Lynne Roe, Paul N. Baird, Danielle L. Healey, Paul J. McCartney, Andrew I McNaught, Edwin M. Stone, John H. Fingert, David A. Mackey, Joanne L. Dickinson, Julian L Rait, Jamie E Craig
Publikováno v:
Ophthalmology. 108:1607-1620
Objective To investigate the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the most common Myocilin mutation (Gln368STOP). Design Cross-sectional genetic study. Participants Eight pedigrees car
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a35e0b672dab73f329eb91e7a04c1fb9
https://doi.org/10.1016/s0161-6420(01)00654-6
https://doi.org/10.1016/s0161-6420(01)00654-6