Ramesar RS - Search Results

1

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

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

Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families.

Ramesar RS, Bardien S, Beighton P, Bryer A. Ramesar RS, et al. Hum Genet. 1997 Jul;100(1):131-7. doi: 10.1007/s004390050478. Hum Genet. 1997. PMID: 9225982

4

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

5

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.

6

Direct-to-consumer genetic testing: to test or not to test, that is the question.

Dandara C, Greenberg J, Lambie L, Lombard Z, Naicker T, Ramesar R, Ramsay M, Roberts L, Theron M, Venter P, Bardien-Kruger S. Dandara C, et al. S Afr Med J. 2013 Jul 4;103(8):510-2. doi: 10.7196/samj.7049. S Afr Med J. 2013. PMID: 23885726

7

Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics.

Roberts L, Rebello G, Greenberg J, Ramesar R. Roberts L, et al. Adv Exp Med Biol. 2019;1185:257-261. doi: 10.1007/978-3-030-27378-1_42. Adv Exp Med Biol. 2019. PMID: 31884621

8

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.

9

X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3.

Winship IM, Babaya M, Ramesar RS. Winship IM, et al. Among authors: ramesar rs. Genomics. 1993 Nov;18(2):444-5. doi: 10.1006/geno.1993.1495. Genomics. 1993. PMID: 8288253

10

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

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