Ramesar RS - Search Results

1

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA. DeStefano AL, et al. Among authors: ramesar rs. Hum Genet. 1998 May;102(5):499-506. doi: 10.1007/s004390050732. Hum Genet. 1998. PMID: 9654197

2

A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.

Butt J, Greenberg J, Winship I, Sellars S, Beighton P, Ramesar R. Butt J, et al. Hum Mol Genet. 1994 Jan;3(1):197-8. doi: 10.1093/hmg/3.1.197. Hum Mol Genet. 1994. PMID: 8162027 No abstract available.

3

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ. Astuto LM, et al. Am J Hum Genet. 2002 Aug;71(2):262-75. doi: 10.1086/341558. Epub 2002 Jun 19. Am J Hum Genet. 2002. PMID: 12075507 Free PMC article.

4

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P. Spritz RA, et al. Am J Hum Genet. 1992 Nov;51(5):1058-65. Am J Hum Genet. 1992. PMID: 1384325 Free PMC article.

5

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

Greenberg J, Goliath R, Beighton P, Ramesar R. Greenberg J, et al. Hum Mol Genet. 1994 Jun;3(6):915-8. doi: 10.1093/hmg/3.6.915. Hum Mol Genet. 1994. PMID: 7951236

6

Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.

Bardien S, Ramesar R, Bhattacharya S, Greenberg J. Bardien S, et al. Hum Genet. 1997 Nov;101(1):13-7. doi: 10.1007/s004390050577. Hum Genet. 1997. PMID: 9385361

7

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ. Weston MD, et al. Am J Hum Genet. 2000 Apr;66(4):1199-210. doi: 10.1086/302855. Epub 2000 Mar 22. Am J Hum Genet. 2000. PMID: 10729113 Free PMC article.

8

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.

9

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. Ophthalmic Genet. 2003 Dec;24(4):225-32. doi: 10.1076/opge.24.4.225.17235. Ophthalmic Genet. 2003. PMID: 14566652

10

Retinitis pigmentosa in southern Africa.

Greenberg J, Bartmann L, Ramesar R, Beighton P. Greenberg J, et al. Clin Genet. 1993 Nov;44(5):232-5. doi: 10.1111/j.1399-0004.1993.tb03888.x. Clin Genet. 1993. PMID: 8313621

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