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Genes and mutations causing retinitis pigmentosa.
Daiger SP, Sullivan LS, Bowne SJ. Daiger SP, et al. Among authors: bowne sj. Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. Clin Genet. 2013. PMID: 23701314 Free PMC article. Review.
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.
Daiger SP, Bowne SJ, Sullivan LS. Daiger SP, et al. Among authors: bowne sj. Cold Spring Harb Perspect Med. 2014 Oct 10;5(10):a017129. doi: 10.1101/cshperspect.a017129. Cold Spring Harb Perspect Med. 2014. PMID: 25304133 Free PMC article. Review.
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS. Bowne SJ, et al. Hum Mol Genet. 1999 Oct;8(11):2121-8. doi: 10.1093/hmg/8.11.2121. Hum Mol Genet. 1999. PMID: 10484783 Free PMC article.
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS. Sohocki MM, et al. Among authors: bowne sj. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K. Hum Mutat. 2001. PMID: 11139241 Free PMC article.
Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.
Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR; RP1 Consortium. Daiger SP, et al. Among authors: bowne sj. Adv Exp Med Biol. 2003;533:1-11. doi: 10.1007/978-1-4615-0067-4_1. Adv Exp Med Biol. 2003. PMID: 15180241 Free PMC article. Review. No abstract available.
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP. Sullivan LS, et al. Among authors: bowne sj. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64. doi: 10.1167/iovs.05-1443. Invest Ophthalmol Vis Sci. 2006. PMID: 16799052 Free PMC article.
62 results