Broadgate S - Search Results

1

Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy.

Broadgate S, Kiire C, Halford S, Chong V. Broadgate S, et al. Acta Ophthalmol. 2018 Apr;96 Suppl A111:1-51. doi: 10.1111/aos.13678. Acta Ophthalmol. 2018. PMID: 29682912 Free article. Review.

2

Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.

Singh MS, Broadgate S, Mathur R, Holt R, Halford S, MacLaren RE. Singh MS, et al. Among authors: broadgate s. Sci Rep. 2016 May 9;6:23674. doi: 10.1038/srep23674. Sci Rep. 2016. PMID: 27157923 Free PMC article.

3

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Shah M, Broadgate S, Shanks M, Clouston P, Yu J, MacLaren RE, Németh AH, Halford S, Downes SM. Shah M, et al. Among authors: broadgate s. JAMA Ophthalmol. 2020 May 1;138(5):544-551. doi: 10.1001/jamaophthalmol.2020.0666. JAMA Ophthalmol. 2020. PMID: 32239196 Free PMC article.

4

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Halford S, et al. Among authors: broadgate s. Ophthalmology. 2014 Jun;121(6):1174-84. doi: 10.1016/j.ophtha.2013.11.042. Epub 2014 Jan 28. Ophthalmology. 2014. PMID: 24480711 Free article.

5

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR. Hull S, et al. Among authors: broadgate s. JAMA Ophthalmol. 2016 Sep 1;134(9):992-1000. doi: 10.1001/jamaophthalmol.2016.2089. JAMA Ophthalmol. 2016. PMID: 27386845

6

Unravelling the genetics of inherited retinal dystrophies: Past, present and future.

Broadgate S, Yu J, Downes SM, Halford S. Broadgate S, et al. Prog Retin Eye Res. 2017 Jul;59:53-96. doi: 10.1016/j.preteyeres.2017.03.003. Epub 2017 Mar 29. Prog Retin Eye Res. 2017. PMID: 28363849 Review.

7

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ; NIHR-BioResource Rare Diseases Consortium; U.K. Inherited Retinal Dystrophy Consortium. Fiorentino A, et al. Among authors: broadgate s. Mol Vis. 2018 Aug 31;24:603-612. eCollection 2018. Mol Vis. 2018. PMID: 30210231 Free PMC article.

8

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.

Al-Khuzaei S, Hudspith KAZ, Broadgate S, Shanks ME, Clouston P, Németh AH, Halford S, Downes SM. Al-Khuzaei S, et al. Among authors: broadgate s. BMC Ophthalmol. 2021 Apr 9;21(1):168. doi: 10.1186/s12886-021-01919-1. BMC Ophthalmol. 2021. PMID: 33836713 Free PMC article.

9

The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions.

Al-Khuzaei S, Shah M, Foster CR, Yu J, Broadgate S, Halford S, Downes SM. Al-Khuzaei S, et al. Among authors: broadgate s. Ther Adv Ophthalmol. 2021 Dec 19;13:25158414211056384. doi: 10.1177/25158414211056384. eCollection 2021 Jan-Dec. Ther Adv Ophthalmol. 2021. PMID: 34988368 Free PMC article. Review.

10

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".

Cundy O, Broadgate S, Halford S, MacLaren RE, Shanks ME, Clouston P, Gilhooley MJ, Downes SM. Cundy O, et al. Among authors: broadgate s. Eye (Lond). 2021 May;35(5):1440-1449. doi: 10.1038/s41433-020-1105-8. Epub 2020 Jul 29. Eye (Lond). 2021. PMID: 32728228 Free PMC article.

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