Zobrazeno 1 - 10
of 11
pro vyhledávání: '"S M, Downes"'
Autor:
S M Downes, M H Gross, Nicholas Herold, Kathleen Beyer, Nina Ridder, Nidhi Nishant, Fei Ji, Ian Macadam
Publikováno v:
Environmental Research Communications. 3:011001
Most studies evaluating future changes in climate extremes over Australia have examined events that occur once or more each year. However, it is extremes that occur less frequently than this that generally have the largest impacts on sectors such as
Autor:
R. Antcliff, P. E. Stanga, N. H. V. Chong, A. C. Reck, S. M. Downes, Alan C. Bird, R. M. Ahuja
Publikováno v:
International Ophthalmology. 23:321-325
The purpose of our work was to compare optical coherent tomography (OCT) and fluorescein angiography (FA) in detecting cystoid macular edema (CME) in retinal dystrophies and to quantify the response to oral acetazolamide.
Publikováno v:
Methods in molecular medicine. 47
Molecular biology has significantly contributed to our understanding of inherited retinal disease, in particular to that of monogenic disorders. The discovery of the responsible gene, the elucidation of its function, and the increasing understanding
Publikováno v:
International ophthalmology. 23(4-6)
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 119(1)
To describe the phenotype in 3 families with dominantly inherited cone and cone-rod dystrophy with mutations in guanylate cyclase activator 1A (GUCA1A), the gene-encoding guanylate cyclase activator protein-1 (GCAP-1).Phenotypic characterization with
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 118(7)
To describe the clinical and genetic findings in a family with multiple cases of cavernous hemangiomas.Investigational clinical and genetic study in which 3 generations of a family consisting of 12 members were screened with magnetic resonance brain
Autor:
K, Gregory-Evans, R E, Kelsell, C Y, Gregory-Evans, S M, Downes, F W, Fitzke, G E, Holder, M, Simunovic, J D, Mollon, R, Taylor, D M, Hunt, A C, Bird, A T, Moore
Publikováno v:
Ophthalmology. 107(1)
To describe the clinical features of autosomal dominant cone-rod retinal dystrophy (CRD) in a British family mapping to chromosome 17p12-p13 (CORD6), with a heterozygous mutation (Glu837Asp/ Arg838Ser) of GUCY2D.A prospective, clinical family survey.
Publikováno v:
Journal of medical genetics. 36(9)
The guanylate cyclase activator proteins (GCAP1 and GCAP2) are calcium binding proteins which by activating Ret-GC1 play a key role in the recovery phase of phototransduction. Recently a mutation in the GUCA1A gene (coding for GCAP1) mapping to the 6
Providing information to patients about their medical condition and treatment options is important in medical management. To assess patients' knowledge of their ocular disease, prognosis, and treatment a questionnaire based survey was performed. 219
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b15be93f5656461ca08e2a81d9968288
https://europepmc.org/articles/PMC1055124/
https://europepmc.org/articles/PMC1055124/
Publikováno v:
European journal of ophthalmology. 3(3)
Retinal vein occlusion (RVO) not infrequently occurs in diabetic patients. Although the aetiology is unclear, it could relate to the other microvascular complications of diabetes. In the non-diabetic, both the central (CRVO) and branch (BRVO) forms a