Ramesar RS - 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: ramesar rs. 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

Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.

Ramesar RS, Greenberg J, Martin R, Goliath R, Bardien S, Mundlos S, Beighton P. Ramesar RS, et al. J Med Genet. 1996 Jun;33(6):511-4. doi: 10.1136/jmg.33.6.511. J Med Genet. 1996. PMID: 8782054 Free PMC article.

3

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

Ballo R, Beighton PH, Ramesar RS. Ballo R, et al. Among authors: ramesar rs. Am J Med Genet. 1998 Oct 30;80(1):6-11. doi: 10.1002/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0. Am J Med Genet. 1998. PMID: 9800905

4

Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin.

Bardien-Kruger S, Greenberg J, Tubb B, Bryan J, Queimado L, Lovett M, Ramesar RS. Bardien-Kruger S, et al. Among authors: ramesar rs. Eur J Hum Genet. 1999 Apr;7(3):332-8. doi: 10.1038/sj.ejhg.5200302. Eur J Hum Genet. 1999. PMID: 10234509

5

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. McKie AB, et al. Among authors: ramesar rs. Hum Mol Genet. 2001 Jul 15;10(15):1555-62. doi: 10.1093/hmg/10.15.1555. Hum Mol Genet. 2001. PMID: 11468273

6

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. 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.

7

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclavik V, Ehsani P, Springell K, Kamal M, Ramesar RS, Mackey DA, Moore AT, Mukhopadhyay R, Webster AR, Black GC, O'Sullivan J, Bhattacharya SS, Pierce EA, Beggs JD, Inglehearn CF. Towns KV, et al. Among authors: ramesar rs. Hum Mutat. 2010 May;31(5):E1361-76. doi: 10.1002/humu.21236. Hum Mutat. 2010. PMID: 20232351 Free article.

8

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.

Korir PK, Roberts L, Ramesar R, Seoighe C. Korir PK, et al. BMC Res Notes. 2014 Jun 27;7:401. doi: 10.1186/1756-0500-7-401. BMC Res Notes. 2014. PMID: 24969741 Free PMC article.

9

A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora.

Roberts L, George S, Greenberg J, Ramesar RS. Roberts L, et al. Among authors: ramesar rs. Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6671-8. doi: 10.1167/iovs.15-17028. Invest Ophthalmol Vis Sci. 2015. PMID: 26469752

10

Inherited retinal disorders in South Africa and the clinical impact of evolving technologies.

Roberts L, Goliath R, Rebello G, Bardien S, September AV, Bartmann L, Loubser F, Greenberg LJ, Ramesar RS. Roberts L, et al. Among authors: ramesar rs. S Afr Med J. 2016 May 25;106(6 Suppl 1):S33-7. doi: 10.7196/SAMJ.2016.v106i6.10988. S Afr Med J. 2016. PMID: 27245521

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