Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1996 Mar;33(3):262–263. doi: 10.1136/jmg.33.3.262

Simple tests for rhodopsin involvement in retinitis pigmentosa.

E Tarttelin, M Al-Maghtheh, J Keen, S Bhattacharya, C Inglehearn
PMCID: PMC1051889  PMID: 8728710

Full text

PDF
263

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bird A. C. Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture. Am J Ophthalmol. 1995 May;119(5):543–562. doi: 10.1016/s0002-9394(14)70212-0. [DOI] [PubMed] [Google Scholar]
  2. Dryja T. P., McGee T. L., Reichel E., Hahn L. B., Cowley G. S., Yandell D. W., Sandberg M. A., Berson E. L. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25;343(6256):364–366. doi: 10.1038/343364a0. [DOI] [PubMed] [Google Scholar]
  3. Farrar G. J., Kenna P., Redmond R., McWilliam P., Bradley D. G., Humphries M. M., Sharp E. M., Inglehearn C. F., Bashir R., Jay M. Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe. Am J Hum Genet. 1990 Dec;47(6):941–945. [PMC free article] [PubMed] [Google Scholar]
  4. Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
  5. Inglehearn C. F., Keen T. J., Bashir R., Jay M., Fitzke F., Bird A. C., Crombie A., Bhattacharya S. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1992 Apr;1(1):41–45. doi: 10.1093/hmg/1.1.41. [DOI] [PubMed] [Google Scholar]
  6. Keen J., Lester D., Inglehearn C., Curtis A., Bhattacharya S. Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels. Trends Genet. 1991 Jan;7(1):5–5. doi: 10.1016/0168-9525(91)90004-a. [DOI] [PubMed] [Google Scholar]
  7. Kumaramanickavel G., Maw M., Denton M. J., John S., Srikumari C. R., Orth U., Oehlmann R., Gal A. Missense rhodopsin mutation in a family with recessive RP. Nat Genet. 1994 Sep;8(1):10–11. doi: 10.1038/ng0994-10. [DOI] [PubMed] [Google Scholar]
  8. McWilliam P., Farrar G. J., Kenna P., Bradley D. G., Humphries M. M., Sharp E. M., McConnell D. J., Lawler M., Sheils D., Ryan C. Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics. 1989 Oct;5(3):619–622. doi: 10.1016/0888-7543(89)90031-1. [DOI] [PubMed] [Google Scholar]
  9. Moore A. T., Fitzke F. W., Kemp C. M., Arden G. B., Keen T. J., Inglehearn C. F., Bhattacharya S. S., Bird A. C. Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation. Br J Ophthalmol. 1992 Aug;76(8):465–469. doi: 10.1136/bjo.76.8.465. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Rosenfeld P. J., Cowley G. S., McGee T. L., Sandberg M. A., Berson E. L., Dryja T. P. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992 Jun;1(3):209–213. doi: 10.1038/ng0692-209. [DOI] [PubMed] [Google Scholar]
  11. Sung C. H., Davenport C. M., Hennessey J. C., Maumenee I. H., Jacobson S. G., Heckenlively J. R., Nowakowski R., Fishman G., Gouras P., Nathans J. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481–6485. doi: 10.1073/pnas.88.15.6481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Wang M. X., Sando R. S., Jr, Crandall A. S., Donoso L. A. Recent advances in the molecular genetics of retinitis pigmentosa. Curr Opin Ophthalmol. 1995 Jun;6(3):1–7. doi: 10.1097/00055735-199506000-00001. [DOI] [PubMed] [Google Scholar]
  13. Weber J. L., May P. E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES