Roberts RG - Search Results

1

Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR.

Gibson RA, Buchwald M, Roberts RG, Mathew CG. Gibson RA, et al. Among authors: roberts rg. Hum Mol Genet. 1993 Jan;2(1):35-8. doi: 10.1093/hmg/2.1.35. Hum Mol Genet. 1993. PMID: 8490620

2

Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.

King K, Sheikh MF, Cuthbert AP, Fisher SA, Onnie CM, Mirza MM, Pattni RC, Sanderson J, Forbes A, Mansfield J, Lewis CM, Roberts RG, Mathew CG. King K, et al. Among authors: roberts rg. Hum Mutat. 2006 Jan;27(1):44-54. doi: 10.1002/humu.20264. Hum Mutat. 2006. PMID: 16278823

3

Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.

Bagnall RD, Roberts RG, Mirza MM, Torigoe T, Prescott NJ, Mathew CG. Bagnall RD, et al. Among authors: roberts rg. Eur J Hum Genet. 2008 May;16(5):619-25. doi: 10.1038/sj.ejhg.5201996. Epub 2008 Jan 23. Eur J Hum Genet. 2008. PMID: 18212821 Free article.

4

Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.

Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG. Prescott NJ, et al. Among authors: roberts rg. Hum Mol Genet. 2010 May 1;19(9):1828-39. doi: 10.1093/hmg/ddq041. Epub 2010 Jan 27. Hum Mol Genet. 2010. PMID: 20106866 Free PMC article.

5

Mutation of the RAD51C gene in a Fanconi anemia-like disorder.

Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG. Vaz F, et al. Among authors: roberts rg. Nat Genet. 2010 May;42(5):406-9. doi: 10.1038/ng.570. Epub 2010 Apr 18. Nat Genet. 2010. PMID: 20400963

6

Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy.

Holding C, Bentley D, Roberts R, Bobrow M, Mathew C. Holding C, et al. J Med Genet. 1993 Nov;30(11):903-9. doi: 10.1136/jmg.30.11.903. J Med Genet. 1993. PMID: 8301643 Free PMC article.

7

A MseI polymorphism in exon 48 of the dystrophin gene.

Yau SC, Roberts RG, Bentley DR, Mathew CG, Bobrow M. Yau SC, et al. Among authors: roberts rg. Nucleic Acids Res. 1991 Oct 25;19(20):5803. doi: 10.1093/nar/19.20.5803-a. Nucleic Acids Res. 1991. PMID: 1682892 Free PMC article.

8

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.

Abbs S, Roberts RG, Mathew CG, Bentley DR, Bobrow M. Abbs S, et al. Among authors: roberts rg. Genomics. 1990 Aug;7(4):602-6. doi: 10.1016/0888-7543(90)90205-9. Genomics. 1990. PMID: 1974880

9

Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy.

Yau SC, Roberts RG, Bobrow M, Mathew CG. Yau SC, et al. Among authors: roberts rg. Lancet. 1993 Jan 30;341(8840):273-5. doi: 10.1016/0140-6736(93)92618-4. Lancet. 1993. PMID: 8093919

10

Dystrophin point mutation screening using a multiplexed protein truncation test.

Whittock NV, Roberts RG, Mathew CG, Abbs SJ. Whittock NV, et al. Among authors: roberts rg. Genet Test. 1997;1(2):115-23. doi: 10.1089/gte.1997.1.115. Genet Test. 1997. PMID: 10464635

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