Goliath R - Search Results

1

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR. Tarpey PS, et al. Among authors: goliath r. Nat Genet. 2009 May;41(5):535-43. doi: 10.1038/ng.367. Epub 2009 Apr 19. Nat Genet. 2009. PMID: 19377476 Free PMC article.

2

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: goliath r. Hum Mol Genet. 2001 Jul 15;10(15):1555-62. doi: 10.1093/hmg/10.15.1555. Hum Mol Genet. 2001. PMID: 11468273

3

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

4

Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

Vorster AA, Rebello MT, Coutts N, Ehrenreich L, Gama AD, Roberts LJ, Goliath R, Ramesar R, Greenberg LJ. Vorster AA, et al. Among authors: goliath r. Clin Genet. 2004 Jan;65(1):7-10. doi: 10.1111/j..2004.00163.x. Clin Genet. 2004. PMID: 15032968

5

A fundamental study of the PCR amplification of GC-rich DNA templates.

Mamedov TG, Pienaar E, Whitney SE, TerMaat JR, Carvill G, Goliath R, Subramanian A, Viljoen HJ. Mamedov TG, et al. Among authors: goliath r. Comput Biol Chem. 2008 Dec;32(6):452-7. doi: 10.1016/j.compbiolchem.2008.07.021. Epub 2008 Jul 25. Comput Biol Chem. 2008. PMID: 18760969 Free PMC article.

6

Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p.

Goliath R, Shugart Y, Janssens P, Weissenbach J, Beighton P, Ramasar R, Greenberg J. Goliath R, et al. Am J Hum Genet. 1995 Oct;57(4):962-5. Am J Hum Genet. 1995. PMID: 7573060 Free PMC article. No abstract available.

7

The gene for PEDF, a retinal growth factor is a prime candidate for retinitis pigmentosa and is tightly linked to the RP13 locus on chromosome 17p13.3.

Goliath R, Tombran-Tink J, Rodriquez IR, Chader G, Ramesar R, Greenberg J. Goliath R, et al. Mol Vis. 1996 Jun 19;2:5. Mol Vis. 1996. PMID: 9233986 Free article. No abstract available.

8

A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations.

Greenberg J, Franz T, Goliath R, Ramesar R. Greenberg J, et al. Among authors: goliath r. S Afr Med J. 1999 Aug;89(8):877-8. S Afr Med J. 1999. PMID: 10488366

9

Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa.

Goliath R, Bardien S, September A, Martin R, Ramesar R, Greenberg J. Goliath R, et al. Hum Mutat. 1998;Suppl 1:S40-1. doi: 10.1002/humu.1380110114. Hum Mutat. 1998. PMID: 9452035 No abstract available.

10

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. Among authors: goliath r. 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.

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