Ramesar R - Search Results

1

Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.

Speer MC, Gilchrist JM, Chutkow JG, McMichael R, Westbrook CA, Stajich JM, Jorgenson EM, Gaskell PC, Rosi BL, Ramesar R, et al. Speer MC, et al. Among authors: ramesar r. Am J Hum Genet. 1995 Dec;57(6):1371-6. Am J Hum Genet. 1995. PMID: 8533766 Free PMC article.

2

A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences.

Horrigan SK, Bartoloni L, Speer MC, Fulton N, Kravarusic J, Ramesar R, Vance JM, Yamaoka LH, Westbrook CA. Horrigan SK, et al. Among authors: ramesar r. Genomics. 1999 Apr 1;57(1):24-35. doi: 10.1006/geno.1999.5765. Genomics. 1999. PMID: 10191080

3

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

Bardien S, Ebenezer N, Greenberg J, Inglehearn CF, Bartmann L, Goliath R, Beighton P, Ramesar R, Bhattacharya SS. Bardien S, et al. Among authors: ramesar r. Hum Mol Genet. 1995 Aug;4(8):1459-62. doi: 10.1093/hmg/4.8.1459. Hum Mol Genet. 1995. PMID: 7581389

4

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

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. Among authors: ramesar r. Hum Mol Genet. 1994 Jun;3(6):915-8. doi: 10.1093/hmg/3.6.915. Hum Mol Genet. 1994. PMID: 7951236

6

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Reichenberger E, et al. Among authors: ramesar r. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11326338 Free PMC article.

7

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. Among authors: ramesar r. Hum Genet. 1997 Nov;101(1):13-7. doi: 10.1007/s004390050577. Hum Genet. 1997. PMID: 9385361

8

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.

Sher C, Ramesar R, Martell R, Learmonth I, Tsipouras P, Beighton P. Sher C, et al. Among authors: ramesar r. Am J Hum Genet. 1991 Mar;48(3):518-24. Am J Hum Genet. 1991. PMID: 1671807 Free PMC article.

9

Piebaldism: an autonomous autosomal dominant entity.

Winship I, Young K, Martell R, Ramesar R, Curtis D, Beighton P. Winship I, et al. Among authors: ramesar r. Clin Genet. 1991 May;39(5):330-7. doi: 10.1111/j.1399-0004.1991.tb03039.x. Clin Genet. 1991. PMID: 1860249

10

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35.

Roby P, Eyre S, Worthington J, Ramesar R, Cilliers H, Beighton P, Grant M, Wallis G. Roby P, et al. Among authors: ramesar r. Am J Hum Genet. 1999 Mar;64(3):904-8. doi: 10.1086/302291. Am J Hum Genet. 1999. PMID: 10053028 Free PMC article. No abstract available.

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