Ramesar RS - Search Results

1

Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.

Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS. Ballo R, et al. Among authors: ramesar rs. Am J Med Genet. 1997 Feb 11;68(4):396-400. Am J Med Genet. 1997. PMID: 9021009

2

Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.

Anderson IJ, Tsipouras P, Scher C, Ramesar RS, Martell RW, Beighton P. Anderson IJ, et al. Among authors: ramesar rs. Am J Med Genet. 1990 Oct;37(2):272-6. doi: 10.1002/ajmg.1320370223. Am J Med Genet. 1990. PMID: 1978986

3

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.

4

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

5

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

6

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.

Bassi MT, Ramesar RS, Caciotti B, Winship IM, De Grandi A, Riboni M, Townes PL, Beighton P, Ballabio A, Borsani G. Bassi MT, et al. Among authors: ramesar rs. Am J Hum Genet. 1999 Jun;64(6):1604-16. doi: 10.1086/302408. Am J Hum Genet. 1999. PMID: 10330347 Free PMC article.

7

UCT's contribution to medical genetics in Africa - from the past into the future.

Beighton P, Fieggen K, Wonkam A, Ramesar R, Greenberg J. Beighton P, et al. S Afr Med J. 2012 Mar 2;102(6):446-8. doi: 10.7196/samj.5621. S Afr Med J. 2012. PMID: 22668932

8

Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.

Vorster AA, Beighton P, Ramesar RS. Vorster AA, et al. Among authors: ramesar rs. Clin Genet. 2015 May;87(5):492-5. doi: 10.1111/cge.12413. Epub 2014 May 22. Clin Genet. 2015. PMID: 24766538

9

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.

Roberts L, Julius S, Dawlat S, Yildiz S, Rebello G, Meldau S, Pillay K, Esterhuizen A, Vorster A, Benefeld G, da Rocha J, Beighton P, Sellars SL, Thandrayen K, Pettifor JM, Ramesar RS. Roberts L, et al. Among authors: ramesar rs. Hum Mutat. 2020 Nov;41(11):1871-1876. doi: 10.1002/humu.24094. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32827185

10

Mseleni joint disease: an endemic arthritis of unknown cause.

Dinkele ES, Ballo R, Fredlund V, Ramesar R, Gibbon V. Dinkele ES, et al. Lancet Rheumatol. 2020 Jan;2(1):e8-e9. doi: 10.1016/S2665-9913(19)30104-3. Lancet Rheumatol. 2020. PMID: 38258279 No abstract available.

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