Roberts L - Search Results

1

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: roberts l. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.

2

Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa.

Roberts L, Ramesar R, Greenberg J. Roberts L, et al. Clin Genet. 2000 Jul;58(1):77-8. doi: 10.1034/j.1399-0004.2000.580114.x. Clin Genet. 2000. PMID: 10945667 No abstract available.

3

Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.

Rebello G, Vorster A, Greenberg J, Coutts N, Roberts L, Ehrenreich L, Gama D, Ramesar R. Rebello G, et al. Among authors: roberts l. Clin Genet. 2003 Aug;64(2):137-41. doi: 10.1034/j.1399-0004.2003.00090.x. Clin Genet. 2003. PMID: 12859409

4

A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing.

Greenberg J, Roberts L, Ramesar R. Greenberg J, et al. Among authors: roberts l. Ophthalmic Genet. 2003 Dec;24(4):225-32. doi: 10.1076/opge.24.4.225.17235. Ophthalmic Genet. 2003. PMID: 14566652

5

Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

Vorster AA, Rebello MT, Coutts N, Ehrenreich L, Gama AD, Roberts LJ, Goliath R, Ramesar R, Greenberg LJ. Vorster AA, et al. Among authors: roberts lj. Clin Genet. 2004 Jan;65(1):7-10. doi: 10.1111/j..2004.00163.x. Clin Genet. 2004. PMID: 15032968

6

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

Rebello G, Ramesar R, Vorster A, Roberts L, Ehrenreich L, Oppon E, Gama D, Bardien S, Greenberg J, Bonapace G, Waheed A, Shah GN, Sly WS. Rebello G, et al. Among authors: roberts l. Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6617-22. doi: 10.1073/pnas.0401529101. Epub 2004 Apr 16. Proc Natl Acad Sci U S A. 2004. PMID: 15090652 Free PMC article.

7

Retinal degenerative disorders in Southern Africa: a molecular genetic approach.

Ramesar RS, Roberts L, Rebello G, Goliath R, Vorster A, September A, Ehrenreich L, Gama D, Greenberg J. Ramesar RS, et al. Among authors: roberts l. Adv Exp Med Biol. 2003;533:35-40. doi: 10.1007/978-1-4615-0067-4_5. Adv Exp Med Biol. 2003. PMID: 15180245 No abstract available.

8

Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa.

Roberts L, Bartmann L, Ramesar R, Greenberg J. Roberts L, et al. Mol Vis. 2006 Mar 15;12:177-83. Mol Vis. 2006. PMID: 16568030 Free article.

9

Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.

Roberts LJ, Ramesar RS, Greenberg J. Roberts LJ, et al. Arch Ophthalmol. 2009 Apr;127(4):549-54. doi: 10.1001/archophthalmol.2009.47. Arch Ophthalmol. 2009. PMID: 19365039

10

Management of a South African family with retinitis pigmentosa-should potential therapy influence translational research protocols?

Roberts L, Rebello G, Ramesar R, Greenberg J. Roberts L, et al. J Ocul Biol Dis Infor. 2008 Mar;1(1):55-8. doi: 10.1007/s12177-008-9001-7. Epub 2008 May 29. J Ocul Biol Dis Infor. 2008. PMID: 20072635 Free PMC article.

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