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Selected References
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- Bell C., Converse C. A., Collins M. F., Esakowitz L., Kelly K. F., Haites N. E. Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family. J Med Genet. 1992 Sep;29(9):667–668. doi: 10.1136/jmg.29.9.667. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Berger W., Meindl A., van de Pol T. J., Cremers F. P., Ropers H. H., Döerner C., Monaco A., Bergen A. A., Lebo R., Warburg M. Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet. 1992 Jun;1(3):199–203. doi: 10.1038/ng0692-199. [DOI] [PubMed] [Google Scholar]
- Berger W., van de Pol D., Warburg M., Gal A., Bleeker-Wagemakers L., de Silva H., Meindl A., Meitinger T., Cremers F., Ropers H. H. Mutations in the candidate gene for Norrie disease. Hum Mol Genet. 1992 Oct;1(7):461–465. doi: 10.1093/hmg/1.7.461. [DOI] [PubMed] [Google Scholar]
- Chen Z. Y., Hendriks R. W., Jobling M. A., Powell J. F., Breakefield X. O., Sims K. B., Craig I. W. Isolation and characterization of a candidate gene for Norrie disease. Nat Genet. 1992 Jun;1(3):204–208. doi: 10.1038/ng0692-204. [DOI] [PubMed] [Google Scholar]
- Cremers F. P., Molloy C. M., van de Pol D. J., van den Hurk J. A., Bach I., Geurts van Kessel A. H., Ropers H. H. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. Hum Mol Genet. 1992 May;1(2):71–75. doi: 10.1093/hmg/1.2.71. [DOI] [PubMed] [Google Scholar]
- Cremers F. P., van de Pol D. J., van Kerkhoff L. P., Wieringa B., Ropers H. H. Cloning of a gene that is rearranged in patients with choroideraemia. Nature. 1990 Oct 18;347(6294):674–677. doi: 10.1038/347674a0. [DOI] [PubMed] [Google Scholar]
- Farrar G. J., Kenna P., Jordan S. A., Kumar-Singh R., Humphries M. M., Sharp E. M., Sheils D. M., Humphries P. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature. 1991 Dec 12;354(6353):478–480. doi: 10.1038/354478a0. [DOI] [PubMed] [Google Scholar]
- Jordan S. A., del Rio T., Soriano N., Garcia-Sandoval B., Kenna P., Ayuso C., Benitez J., Humphries P. Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus. Hum Mol Genet. 1992 Sep;1(6):411–415. doi: 10.1093/hmg/1.6.411. [DOI] [PubMed] [Google Scholar]
- Li Y., Müller B., Fuhrmann C., van Nouhuys C. E., Laqua H., Humphries P., Schwinger E., Gal A. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet. 1992 Oct;51(4):749–754. [PMC free article] [PubMed] [Google Scholar]
- Plager D. A., Orgel I. K., Ellis F. D., Hartzer M., Trese M. T., Shastry B. S. X-linked recessive familial exudative vitreoretinopathy. Am J Ophthalmol. 1992 Aug 15;114(2):145–148. doi: 10.1016/s0002-9394(14)73977-7. [DOI] [PubMed] [Google Scholar]
- 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]
- Sankila E. M., Tolvanen R., van den Hurk J. A., Cremers F. P., de la Chapelle A. Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nat Genet. 1992 May;1(2):109–113. doi: 10.1038/ng0592-109. [DOI] [PubMed] [Google Scholar]