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Retinal dystrophies and genetic counselling

Acta ophthalmologica Scandinavica, v.74 suppl.219, 1996년, pp.5 - 7  

Jay, M. ,  Evans, K.

Abstract AI-Helper 아이콘AI-Helper

ABSTRACT Increased patient demand is leading to a corresponding increase in the need for informed genetic counselling in ophthalmic practice which requires refined diagnosis, and a detailed knowledge of molecular genetics. Accurate assessment of risk and visual potential in prospective children is b...

참고문헌 (31)

  1. Al-Maghtheh, Mai, Gregory, Cheryl, Inglehearn, Chris, Hardcastle, Alison, Bhattacharya, Shomi. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Human mutation, vol.2, no.4, 249-255.

  2. Bird, A. C.. X-linked retinitis pigmentosa.. British journal of ophthalmology, vol.59, no.4, 177-199.

  3. BIRD, A.C.. Retinal Photoreceptor Dystrophies LI. Edward Jackson Memorial Lecture. American journal of ophthalmology, vol.119, no.5, 543-562.

  4. Molecular Genetics of Inherited Eye Disorders 53-88 Bird AC 1994 

  5. Am J Hum Genet Boughman JA 223 32 1980 Population genetic studies of retinitis pigmentosa 

  6. Blindness and partially sighted adults in Britain: the RNIB survey Bruce I 1991 

  7. Bundey, S, Crews, S J. A study of retinitis pigmentosa in the City of Birmingham. I Prevalence.. Journal of medical genetics, vol.21, no.6, 417-420.

  8. Bunker, Clareann H., Berson, Eliot L., Bromley, William C., Hayes, Robert P., Roderick, Thomas H.. Prevalence of Retinitis Pigmentosa in Maine. American journal of ophthalmology, vol.97, no.3, 357-365.

  9. Evans, Kevin, Fryer, Alan, Inglehearn, Christopher, Duvall-Young, Josephine, Whittaker, Joanne L., Gregory, Cheryl Y., Butler, Rachel, Ebenezer, Neil, Hunt, David M., Bhattacharya, Shomi. Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nature genetics, vol.6, no.2, 210-213.

  10. Evans, K, al-Maghtheh, M, Fitzke, F W, Moore, A T, Jay, M, Inglehearn, C F, Arden, G B, Bird, A C. Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.. British journal of ophthalmology, vol.79, no.9, 841-846.

  11. Furu, T., Kääriäinen, H., Sankila, E.‐M., Norio, R.. Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives. Clinical genetics, vol.43, no.3, 160-165.

  12. Greenberg, J., Bartmann, L., Ramesar, R., Beighton, P.. Retinitis pigmentosa in Southern Africa. Clinical genetics, vol.44, no.5, 232-235.

  13. Haim, Marianne. Retinitis pigmentosa: problems associated with genetic classification. Clinical genetics, vol.44, no.2, 62-70.

  14. Retinitis pigmentosa Heckenlively JR 1988 

  15. Hu, Dan‐Ning. Genetic aspects of retinitis pigmentosa in China. American journal of medical genetics, vol.12, no.1, 51-56.

  16. Progress Clin & Biol Res Inana G 191 362 1991 Molecular basis of ornithine aminotransferase defect in gyrate atrophy 

  17. Jay, M.. On the heredity of retinitis pigmentosa.. British journal of ophthalmology, vol.66, no.7, 405-416.

  18. Kajiwara, K, Berson, EL, Dryja, TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science, vol.264, no.5165, 1604-1608.

  19. Kar, Bibhas, John, Sheila, Kumaramanickavel, G.. Retinitis pigmentosa in India: a genetic and segregation analysis. Clinical genetics, vol.47, no.2, 75-79.

  20. Keen, T J, Inglehearn, C F, Kim, R, Bird, A C, Bhattacharya, S. Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.. Human molecular genetics, vol.3, no.2, 367-368.

  21. Kikawa, E., Nakazawa, M., Chida, Y., Shiono, T., Tamai, M.. A Novel Mutation (Asn244Lys) in the Peripherin/RDS Gene Causing Autosomal Dominant Retinitis Pigmentosa Associated with Bull's-Eye Maculopathy Detected by Nonradioisotopic SSCP. Genomics, vol.20, no.1, 137-139.

  22. McLaughlin, Margaret E., Sandberg, Michael A., Berson, Eliot L., Dryja, Thaddeus P.. Recessive mutations in the gene encoding the β-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature genetics, vol.4, no.2, 130-134.

  23. Mehta, L, Young, I D. Attitudes of Asian families to genetic counselling.. Journal of medical genetics, vol.22, no.5, 413-413.

  24. Analysis of Human Genetic Linkage Ott J 1985 

  25. Pawlowitzki, I.H., Ruther, K., Brunsmann, F., Gizycki, R.V.. ACCEPTABILITY OF PRENATAL DIAGNOSIS FOR RETINITIS PIGMENTOSA. The Lancet, vol.328, no.8520, 1394-1395.

  26. Seabra, MC, Brown, MS, Goldstein, JL. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Science, vol.259, no.5093, 377-381.

  27. Travis, Gabriel H., Hepler, Jessie E.. A medley of retinal dystrophies. Nature genetics, vol.3, no.3, 191-192.

  28. Blind and partially sighted children in Britain: the RNIB survey Walker E 1992 

  29. Weber, Bernhard H. F., Vogt, Gudrun, Pruett, Ronald C., Stöhr, Heidi, Felbor, Ute. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature genetics, vol.8, no.4, 352-356.

  30. Well, Dominique, Blanchard, Stéphane, Kaplan, Josseline, Guilford, Parry, Gibson, Fernando, Walsh, James, Mburu, Philomena, Varela, Anabel, Levilliers, Jacqueline, Weston, Michael D., Kelley, Phillip M., Kimberling, William J., Wagenaar, Mariette, Levi-Acobas, Fabienne, Larget-Piet, Dominique, Munnich, Arnold, Steel, Karen P., Brown, Steve D. M., Petit, Christine. Defective myosin VIIA gene responsible for Usher syndrome type IB. Nature, vol.374, no.6517, 60-61.

  31. Weleber, Richard G.. Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene. Archives of ophthalmology, vol.111, no.11, 1531-.

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