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MeSH Review

Albinism, Ocular

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Disease relevance of Albinism, Ocular


High impact information on Albinism, Ocular


Chemical compound and disease context of Albinism, Ocular


Biological context of Albinism, Ocular


Anatomical context of Albinism, Ocular


Gene context of Albinism, Ocular


  1. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. Lee, S.T., Nicholls, R.D., Bundey, S., Laxova, R., Musarella, M., Spritz, R.A. N. Engl. J. Med. (1994) [Pubmed]
  2. Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20). van Dorp, D.B. Clin. Genet. (1987) [Pubmed]
  3. X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. O'Donnell, F.E., Green, W.R., Fleischman, J.A., Hambrick, G.W. Arch. Ophthalmol. (1978) [Pubmed]
  4. Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus. Bouloux, P.M., Kirk, J., Munroe, P., Duke, V., Meindl, A., Hilson, A., Grant, D., Carter, N., Betts, D., Meitinger, T. Clin. Genet. (1993) [Pubmed]
  5. X-linked retinal disorders and the Lyon hypothesis. Jay, B. Transactions of the ophthalmological societies of the United Kingdom. (1985) [Pubmed]
  6. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Bassi, M.T., Ramesar, R.S., Caciotti, B., Winship, I.M., De Grandi, A., Riboni, M., Townes, P.L., Beighton, P., Ballabio, A., Borsani, G. Am. J. Hum. Genet. (1999) [Pubmed]
  7. OA1 mutations and deletions in X-linked ocular albinism. Schnur, R.E., Gao, M., Wick, P.A., Keller, M., Benke, P.J., Edwards, M.J., Grix, A.W., Hockey, A., Jung, J.H., Kidd, K.K., Kistenmacher, M., Levin, A.V., Lewis, R.A., Musarella, M.A., Nowakowski, R.W., Orlow, S.J., Pagon, R.S., Pillers, D.A., Punnett, H.H., Quinn, G.E., Tezcan, K., Wagstaff, J., Weleber, R.G. Am. J. Hum. Genet. (1998) [Pubmed]
  8. A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. Emes, R.D., Ponting, C.P. Hum. Mol. Genet. (2001) [Pubmed]
  9. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Wapenaar, M.C., Bassi, M.T., Schaefer, L., Grillo, A., Ferrero, G.B., Chinault, A.C., Ballabio, A., Zoghbi, H.Y. Hum. Mol. Genet. (1993) [Pubmed]
  10. Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. Zhang, Y., McMahon, R., Charles, S.J., Green, J.S., Moore, A.T., Barton, D.E., Yates, J.R. J. Med. Genet. (1993) [Pubmed]
  11. Fundal findings in a female carrier of X-linked ocular albinism. Mansour, A.M., Greenwald, M.J., Jampol, L.M., Hrisomalos, N. Arch. Ophthalmol. (1987) [Pubmed]
  12. Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. Schnur, R.E., Wick, P.A., Bailey, C., Rebbeck, T., Weleber, R.G., Wagstaff, J., Grix, A.W., Pagon, R.A., Hockey, A., Edwards, M.J. Am. J. Hum. Genet. (1994) [Pubmed]
  13. Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. Charles, S.J., Green, J.S., Moore, A.T., Barton, D.E., Yates, J.R. Genomics (1993) [Pubmed]
  14. X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. Winship, I.M., Babaya, M., Ramesar, R.S. Genomics (1993) [Pubmed]
  15. X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism. Jaeger, C., Jay, B. Hum. Genet. (1981) [Pubmed]
  16. Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. Surace, E.M., Angeletti, B., Ballabio, A., Marigo, V. Invest. Ophthalmol. Vis. Sci. (2000) [Pubmed]
  17. Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis. Shen, B., Rosenberg, B., Orlow, S.J. Traffic (2001) [Pubmed]
  18. Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance. Carlson, S., Vesti, E., Raitta, C., Donner, M., Eriksson, A.W., Forsius, H. Acta ophthalmologica. (1991) [Pubmed]
  19. Survey of school children with visual impairment in Bradford. Schwarz, K., Yeung, S., Symons, N., Bradbury, J. Eye (London, England) (2002) [Pubmed]
  20. A girl with Hermansky-Pudlak syndrome. Suzuki, T., Ohga, H., Katayama, T., Egi, K., Fujiwara, H., Mizushima, M. Acta ophthalmologica. (1991) [Pubmed]
  21. Visual acuity, amblyopia, and ocular pathology in 12- to 13-year-old children in Northern Mexico. Ohlsson, J., Villarreal, G., Sjöström, A., Cavazos, H., Abrahamsson, M., Sjöstrand, J. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus. (2003) [Pubmed]
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