Detalhe da pesquisa
1.
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
Exp Eye Res
; 225: 109276, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36209838
2.
SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE.
Retina
; 42(8): 1545-1559, 2022 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35344533
3.
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).
Doc Ophthalmol
; 143(1): 61-73, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33512609
4.
CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE.
Retina
; 41(12): 2578-2588, 2021 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34125082
5.
Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population.
Adv Exp Med Biol
; 1185: 269-273, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31884623
6.
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
Mol Vis
; 24: 478-484, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30090012
7.
Genetic analysis of choroideremia families in the Australian population.
Clin Exp Ophthalmol
; 43(8): 727-34, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25912515
8.
Clinical and molecular characterization of females affected by X-linked retinoschisis.
Clin Exp Ophthalmol
; 43(7): 643-7, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25894957
9.
Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCT.
Ophthalmol Retina
; 8(2): 174-183, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37209970
10.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules
; 14(3)2024 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38540785
11.
Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank.
Clin Exp Ophthalmol
; 41(5): 476-83, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23078154
12.
Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers.
Invest Ophthalmol Vis Sci
; 64(1): 3, 2023 01 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36607619
13.
Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy.
Ophthalmol Retina
; 7(1): 81-91, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35792359
14.
Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.
Mol Vis
; 18: 2043-52, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22876132
15.
Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.
Stem Cell Res
; 54: 102439, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34214897
16.
Genotype-Specific Lesion Growth Rates in Stargardt Disease.
Genes (Basel)
; 12(12)2021 12 14.
Artigo
Inglês
| MEDLINE | ID: mdl-34946930
17.
Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene.
Stem Cell Res
; 54: 102448, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34198153
18.
Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11.
Genes (Basel)
; 12(6)2021 06 14.
Artigo
Inglês
| MEDLINE | ID: mdl-34198599
19.
Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1.
Stem Cell Res
; 54: 102403, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34034222
20.
Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.
Transl Vis Sci Technol
; 10(2): 38, 2021 02 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34003923